case study in medical field

Writing a Case Report

This page is intended for medical students, residents or others who do not have much experience with case reports, but are planning on writing one.  

What is a case report?  A medical case report, also known as a case study, is a detailed description of a clinical encounter with a patient.  The most important aspect of a case report, i.e. the reason you would go to the trouble of writing one, is that the case is sufficiently unique, rare or interesting such that other medical professionals will learn something from it.   

Case reports are commonly of the following categories :

- Rare diseases

- Unusual presentation of disease

- Unexpected events

- Unusual combination of diseases or conditions

- Difficult or inconclusive diagnosis

- Treatment or management challenges

- Personal impact

- Observations that shed new light on a disease or condition

- Anatomical variations

It is important that you recognize what is unique or interesting about your case, and this must be described clearly in the case report.

Case reports generally take the format of :

1. Background

2. Case presentation

3. Observations and investigation

4. Diagnosis

5. Treatment

7. Discussion

Does a case report require IRB approval?

Case reports typically discuss a single patient. If this is true for your case report, then it most likely does not require IRB approval because it not considered research.    If you have more than one patient, your study could qualify as a Case Series, which would require IRB review.  If you have questions, you chould check your local IRB's guidelines on reviewing case reports.

Are there other rules for writing a case report?

First, you will be collecting protected health information, thus HIPAA applies to case reports.   Spectrum Health has created a very helpful guidance document for case reports, which you can see here:   Case Report Guidance - Spectrum Health

While this guidance document was created by Spectrum Health, the rules and regulations outlined could apply to any case report.  This includes answering questions like: Do I need written HIPAA authorization to publish a case report?  When do I need IRB review of a case report?  What qualifies as a patient identifier?

How do I get started?

1. We STRONGLY encourage you to consult the CARE Guidelines, which provide guidance on writing case reports -  https://www.care-statement.org/

Specifically, the checklist -  https://www.care-statement.org/checklist  - which explains exactly the information you should collect and include in your case report.  

2. Identify a case.  If you are a medical student, you may not yet have the clinical expertise to determine if a specific case is worth writing up.  If so, you must seek the help of a clinician.  It is common for students to ask attendings or residents if they have any interesting cases that can be used for a case report. 

3. Select a journal or two to which you think you will submit the case report.   Journals often have specific requirements for publishing case reports, which could include a requirement for informed consent, a letter or statement from the IRB and other things.  Journals may also charge publication fees (see Is it free to publish? below)   

4. Obtain informed consent from the patient (see " Do I have to obtain informed consent from the patient? " below).  Journals may have their own informed consent form that they would like you to use, so please look for this when selecting a journal.

Once you've identified the case, selected an appropriate journal(s), and considered informed consent, you can collect the required information to write the case report.

How do I write a case report?

Once you identify a case and have learned what information to include in the case report, try to find a previously published case report.  Finding published case reports in a similar field will provide examples to guide you through the process of writing a case report.    

One journal you can consult is BMJ Case Reports .  MSU has an institutional fellowship with BMJ Case Reports which allows MSU faculty, staff and students to publish in this journal for free.  See this page for a link to the journal and more information on publishing-    https://lib.msu.edu/medicalwriting_publishing/

There are numerous other journals where you can find published case reports to help guide you in your writing. 

Do I have to obtain informed consent from the patient?

The CARE guidelines recommend obtaining informed consent from patients for all case reports.  Our recommendation is to obtain informed consent from the patient.  Although not technically required, especially if the case report does not include any identifying information, some journals require informed consent for all case reports before publishing.  The CARE guidelines recommend obtaining informed consent AND the patient's perspective on the treatment/outcome (if possible).  Please consider this as well.  

If required, it is recommended you obtain informed consent before the case report is written.

An example of a case report consent form can be found on the BMJ Case Reports website, which you can access via the MSU library page -  https://casereports.bmj.com/ .  Go to "Instructions for Authors" and then "Patient Consent" to find the consent form they use.  You can create a similar form to obtain consent from your patient.  If you have identified a journal already, please consult their requirements and determine if they have a specific consent form they would like you to use.

Seek feedback

Once you have written a draft of the case report, you should seek feedback on your writing, from experts in the field if possible, or from those who have written case reports before.   

Selecting a journal

Aside from BMJ Case Reports mentioned above, there are many, many journals out there who publish medical case reports.   Ask your mentor if they have a journal they would like to use.  If you need to select on your own, here are some strategies:

1. Do a PubMed search.  https://pubmed.ncbi.nlm.nih.gov/

   a. Do a search for a topic, disease or other feature of your case report 

   b. When the results appear, on the left side of the page is a limiter for "article type".  Case reports are an article type to which you can limit your search results.  If you don't see that option on the left, click "additional filters". 

   c. Review the case reports that come up and see what journals they are published in.

2. Use JANE -  https://jane.biosemantics.org/

3. Check with specialty societies.  Many specialty societies are affiliated with one or more journal, which can be reviewed for ones that match your needs

4. Search through individual publisher journal lists.  Elsevier publishes many different medical research journals, and they have a journal finder, much like JANE  ( https://journalfinder.elsevier.com/ ).  This is exclusive to Elsevier journals.  There are many other publishers of medical journals for review, including Springer, Dove Press, BMJ, BMC, Wiley, Sage, Nature and many others.

Is it free to publish ?

Be aware that it may not be free to publish your case report.  Many journals charge publication fees. Of note, many open access journals charge author fees of thousands of dollars.  Other journals have smaller page charges (i.e. $60 per page), and still others will publish for free, with an "open access option".  It is best practice to check the journal's Info for Authors section or Author Center to determine what the cost is to publish.  MSU-CHM does NOT have funds to support publication costs, so this is an important step if you do not want to pay out of pocket for publishing

*A more thorough discussion on finding a journal, publication costs, predatory journals and other publication-related issues can be found here:   https://research.chm.msu.edu/students-residents/finding-a-journal

Gagnier JJ, Kienle G, Altman DG, Moher D, Sox H, Riley D. 2013. The CARE guidelines: Consensus-based clinical case reporting guideline development.  Glob Adv Health Med . 2:38-43. doi:  10.7453/gahmj.2013.008

Riley DS, Barber MS, Kienle GS, AronsonJK, von Schoen-Angerer T, Tugwell P, Kiene H, Helfand M, Altman DG, Sox H, Werthmann PG, Moher D, Rison RA, Shamseer L, Koch CA, Sun GH, Hanaway P, Sudak NL, Kaszkin-Bettag M, Carpenter JE, Gagnier JJ. 2017.  CARE guidelines for case reports: explanation and elaboration document . J Clin Epidemiol . 89:218-234. doi: 10.1016/j.jclinepi.2017.04.026 

Guidelines to writing a clinical case report. 2017. Heart Views . 18:104-105. doi:  10.4103/1995-705X.217857

Ortega-Loubon C, Culquichicon C, Correa R. The importance of writing and publishing case reports during medical education. 2017. Cureus. 9:e1964. doi:  10.7759/cureus.1964

Writing and publishing a useful and interesting case report. 2019. BMJ Case Reports.  https://casereports.bmj.com/pages/wp-content/uploads/sites/69/2019/04/How-to-write-a-Case-Report-DIGITAL.pdf

Camm CF. Writing an excellent case report: EHJ Case Reports , Case of the Year 2019. 2020. European Heart Jounrnal. 41:1230-1231.  https://doi.org/10.1093/eurheartj/ehaa176  

*content developed by Mark Trottier, PhD

• - Google Chrome

Intended for healthcare professionals

• Access provided by Google Indexer
• My email alerts
• BMA member login
• Username * Password * Forgot your log in details? Need to activate BMA Member Log In Log in via OpenAthens Log in via your institution

Search form

• Advanced search
• Search responses
• Search blogs
• How to write a medical...

How to write a medical case report

• Related content
• Peer review
• Seema Biswas , editor-in-chief, BMJ Case Reports, London, UK ,
• Oliver Jones , student editor, BMJ Case Reports, London, UK

Two BMJ Case Reports journal editors take you through the process

This article contains...

- Choosing the right patient

- Choosing the right message

- Before you begin - patient consent

- How to write your case report

- How to get published

During medical school, students often come across patients with a unique presentation, an unfamiliar response to treatment, or even an obscure disease. Writing a case report is an excellent way of documenting these findings for the wider medical community—sharing new knowledge that will lead to better and safer patient care.

For many medical students and junior doctors, a case report may be their first attempt at medical writing. A published case report will look impressive on your curriculum vitae, particularly if it is on a topic of your chosen specialty. Publication will be an advantage when applying for foundation year posts and specialty training, and many job applications have points allocated exclusively for publications in peer reviewed journals, including case reports.

The writing of a case report rests on skills that medical students acquire in their medical training, which they use throughout their postgraduate careers: these include history taking, interpretation of clinical signs and symptoms, interpretation of laboratory and imaging results, researching disease aetiology, reviewing medical evidence, and writing in a manner that clearly and effectively communicates with the reader.

If you are considering writing a case report, try to find a senior doctor who can be a supervising coauthor and help you decide whether you have a message worth writing about, that you have chosen the correct journal to submit to (considering the format that the journal requires), that the process is transparent and ethical at all times, and that your patient is not compromised in your writing. Indeed, try to include your patient in the process from the outset, and always gain consent.

A case report is the first line of medical evidence, and over time has become an important medium for sharing new findings (box 1). High quality case reports successfully bring together the various domains of medicine such as physiology, pathology, and anatomy. Using the patient as the focus, case reports provide a clinical “coat peg” on which to hang this knowledge.

Box 1: Notable case reports through the ages

Many case reports have changed the way clinicians view health and disease. For example, in 1861 the French surgeon Pierre Paul Broca reported the case of a dysphasic patient nicknamed “Tan”—owing to his inability to say any other words. After Tan’s death, Broca did an autopsy and discovered a syphilitic lesion in the frontal lobe of the brain, leading to the hypothesis of a speech centre in the brain—later known as Broca’s area. 1 Other notable case reports have documented the discovery of the Bence-Jones protein, 2 the first descriptions of Parkinson’s disease, 3 and AIDS. 4

Choosing the right patient

We can learn from all patients, but choose a patient from whom there is something new to learn. Search the literature and decide whether the topic you want to discuss, whether clinical or non-clinical (a radiological or microbiological finding, for example), has already been well discussed.

Your patient should ideally be someone who is not simply a willing participant in this process but someone who wants their story to be told to educate students, doctors, and other patients. Many journals have an option for patients to contribute to the manuscript.

Choosing the right message

Rare diseases are not in themselves a reason to write up a case, but unusual presentations of a common disease are important to communicate to the medical community. Early or subtle signs and symptoms that are easily missed are important for us to learn from. Indeed, the learning value of your case is the single most important factor in determining whether it is likely to be published.

Have in mind the journal that you want to submit your manuscript to before you begin to write. Your case and the message should fit with the style of the journal, whether a specialist journal, a case reports journal, or a journal that publishes case presentations in different formats. This may include question and answer formats, quizzes, or even interactive online educational formats useful for exam revision—for example, Endgames ( The BMJ ), Epilogue ( Archives of Disease in Childhood ), or Images ( New England Journal of Medicine ). These adapted formats are important, as most of these journals no longer accept case reports written in their traditional format.

Also, be careful in your claims about new diseases and new treatments. Case reports cannot make claims about the efficacy of novel treatments on the basis of individual cases and limited follow-up time. The most important message is a new or novel learning point—that is, the educational message.

Before you begin

Once you have chosen your patient and discussed with them what you would like to write, show them the case report so that they may give informed consent to your manuscript submission and familiarise themselves with the website.

It is important that a patient understands how their case will appear online or in print and that they truly give informed consent. You should do this under the supervision of the senior doctor who is the supervising coauthor of your manuscript; ideally, the senior doctor would obtain consent.

Writing the case report

Case presentation.

Begin with the case presentation (box 2): describe your encounter with the patient, their symptoms, and their signs. You should already have an idea what your take home messages will be. If the journal presentation of the case report allows, you can write these take home messages as bullet points (box 3).

Box 2: Case presentation

Acute pancreatitis and severe hypertriglyceridaemia masking unsuspected underlying diabetic ketoacidosis.

After 48 hours of anorexia, nausea, and non-bloody vomiting at home, the patient presented to her local hospital, where the diagnosis of moderate acute pancreatitis was made, based on an abdominal computed tomogram and ultrasound and serum chemistry. Ongoing symptoms, including left upper quadrant, 7/10 stabbing pain with generalised abdominal cramps, led to her transfer to the closest tertiary hospital for further management.

On admission to the tertiary hospital, the patient was treated as having uncomplicated pancreatitis. Immediate management included intravenous rehydration therapy, antiemetics, and narcotics for pain control with further orders for nothing to be ingested until the patient was re-evaluated. Initial assessment of the patient showed a temperature of 37.3ºC, heart rate 110 beats/min, blood pressure 126/68 mm Hg, respiratory rate 14 breaths/min, and oxygen saturation 98% on room air. She had a normal body habitus and was not in distress; however, she had a moderate amount of abdominal discomfort. Her physical examination showed no xanthalasmas or skin eruptions, nor was a fruity odour detected. Her gastrointestinal examination showed diffuse tenderness, with a soft, non-distended abdomen. Also, no organomegally was noted. Other than tachycardia, her cardiorespiratory examination was unremarkable with the notable absence of tachypnoea.

The patient was previously healthy without any medical history or surgical history. Her medication list was limited to the oral contraceptive pill (ethinyl oestradiol, norgestimate). The patient described only occasional social alcohol consumption (none within the last week) and no binge drinking or recreational drug use in the past. There were no recent surgeries, gastrointestinal endoscopic procedures, or abdominal trauma. She denied fever, chills, rigors, or recent unintended weight loss. There was no history of polyuria or polydipsia.

She did not have any prodromal abdominal symptoms There had been no similar episodes previously. There was no family history of dyslipidaemias, pancreatitis, or gallstones. Her family history was relevant for rectal carcinoma in her paternal grandfather and type 2 diabetes in her maternal grandmother. Six hours after her arrival at the tertiary hospital, and 12 hours from her first presentation and assessment at the local rural hospital, the patient began to decompensate with rapid progression of hypotension, tachycardia, and tachypnoea. The acute decompensation to hypotension and shock was assumed to be due to progression of the pancreatitis with potential infection complicating the pancreatitis. The patient was aggressively rehydrated and started on broad spectrum antibiotics. However, the hypotension failed to respond to fluid resuscitation and there was increased patient distress. She was urgently referred to the intensive care unit for supportive measures and management.

Aboulhosn K, Arnason T. Acute pancreatitis and severe hypertriglyceridaemia masking unsuspected underlying diabetic ketoacidosis. BMJ Case Rep 2013;2013, doi: 10.1136/bcr-2013-200431 .

Box 3: Learning points

Postpartum hellp syndrome and subcapsular liver haematoma.

Subcapsular liver haematoma is a potentially life threatening complication of severe pre-eclampsia and haemolysis, the breakdown of red blood cells; elevated liver enzymes; low platelet count syndrome.

The complication is rare but should be considered with severe upper abdominal pain in obstetric patients, especially in the presence of pre-eclampsia.

Real time ultrasound imaging of the liver is often diagnostic.

Messerschmidt L, Andersen LL, Sorensen MB. Postpartum HELLP syndrome and subcapsular liver haematoma. BMJ Case Rep 2014, doi: 10.1136/bcr-2013-202503 .

You should separate your case presentation section from the investigations and differential diagnoses. The key points to remember to include are your choice of investigations and how they helped you establish a working diagnosis (box 4).

Box 4: Investigations

Unilateral presentation of postpartum cardiomyopathy misdiagnosed as pneumonia.

On arriving at the emergency department, the patient had severe shortness of breath at rest 10 days after delivery. Her vital signs included an oral temperature of 36.7ºC, blood pressure 163/102 mmHg, pulse rate 146 beats/min, and oxygen saturation 88% in room air. Treatment with supplemental oxygen by mask yielded an increase in oxygen saturation to 95%. Her physical examination revealed no jugular venous distension, hepatic enlargement, or pedal oedema; heart sounds were fast and regular, with no evidence of murmurs or additional sounds. On lung auscultation bilateral crackles were present. Her laboratory analysis showed mild non-specific indicators of stress with a leucocyte count of 9.3×10 3 cells/mm 3 , haemoglobin value of 10.6 g/dL, and a platelet count of 791×10 3 cells/mm 3 . Her electrocardiogram was similar to the one obtained a day earlier showing T wave inversion in leads V4–V6; however, chest radiography showed a more bilateral presentation compared with the previous one showing both heart enlargement and pulmonary oedema. A chest computed tomography angiography performed to exclude pulmonary artery embolisation confirmed the presence of cardiomegaly and pulmonary oedema with bilateral effusions (fig 1). ⇓ An echocardiogram showed a diminished ejection fraction of 15-20% confirming the diagnosis of postpartum cardiomyopathy.

Amit BH, Marmor A, Hussein A. Unilateral presentation of postpartum cardiomyopathy misdiagnosed as pneumonia. BMJ Case Rep 2010, doi: 10.1136/bcr.05.2010.3039 .

Fig 1 Chest computed tomogram performed after deterioration showing heart enlargement, pulmonary oedema, and bilateral pleural effusions mainly on the right. From Amit BH et al. BMJ Case Rep 2010, doi: 10.1136/bcr.05.2010.3039 .

• Download figure
• Open in new tab
• Download powerpoint

Imagine that you are presenting at a grand round and have to explain your choices to your colleagues—this is essentially what you are doing as you write your case report. Do not simply list your differential diagnoses; describe how you worked through your list of differentials and how you established a final diagnosis.

Also, make sure you collect and include high quality and well annotated images that not only explain radiological findings but also show their importance in establishing your diagnosis.

Good quality annotated images

Fig 2 Craniocervical x ray film showing fusion of the posterior arch of C1 to the occiput. A fracture was not evident, but clinical suspicion prompted a computed tomography scan

Fig 3 Axial, left, and sagittal, right, computed tomography scans of the craniocervical junction at presentation showing fusion of the left occipital condyle with the lateral mass of C1 and a fracture involving both elements. The fracture is indicated by the arrowheads

Outcome and follow-up

The outcome and your follow-up of the patient are important. In both your case presentation and the section on patient outcome, you should describe what happened to your patient in terms of their specific symptoms, their general wellbeing, and their lifestyle and activity.

Some journals require you to write a summary of your case report. This usually has a word limit and appears in medical search engines, such as Pubmed/MEDLINE. It is the equivalent of the abstract of a research paper.

Ensure that your title is scientific and clinical. Cryptic and humorous titles translate poorly across a global audience and do not always accurately reflect the content of your case report. You may find that the word limit does not permit you to write all the detail you would want to include in the summary, but the background section allows you to do this. Try to make sure that the background section does not repeat the summary.

Publication process

Clinical videos and images are important alternatives or potential additions to clinical case reports which many journals encourage authors to submit. Again, prepare these in collaboration with clinical teachers or coauthors, who will help you annotate these images and point out important learning messages, and do this from the outset in the format of the journal that you have researched well and decided to submit your manuscript to.

All submitted case reports are usually sent for peer review. Reviewers are chosen according to their specialty and clinical or academic interests. Your choice of key words is therefore important as these are the basis for the assignment of reviewers. Keywords are also important for other authors doing literature searches who discover your case report and cite this in their own writing.

Decisions to accept, revise, or reject are based on editors’ and reviewers’ opinions together, and every attempt is made to ensure that criticism is constructive and useful.

Dependent on how quickly your manuscript is reviewed, you should receive a decision on your manuscript within three to six weeks of submission. Outright rejections for reasons such as the unsuitability of your manuscript for the particular journal and its audience, manuscripts in the wrong format, incomplete sections (especially the case presentation and differential diagnosis sections), and plagiarism tend to be prompt, and they would be easily avoided by following the steps above and choosing your patient, your topic, your journal, and your particular manuscript format well.

Rejections on the basis of the content of the case report tend to be at the peer review stage and may be a few weeks after submission. They could include reasons such as the lack of novelty or educational message, a poor literature search, or inconsistent clinical management. Again, this is avoidable by preparing well. It is unusual for a well thought out and well prepared manuscript to be rejected.

Autoformatting software, especially with references, may produce errors, so do double check these. Syntax errors, spelling mistakes, and poor grammar create a poor impression of an otherwise good case report. As always, first impressions matter, so be meticulous as you proofread your manuscript before you submit.

The entire process of publication depends on the number of revisions necessary and how quickly you submit a revised manuscript. For those of you aiming to submit in time to prepare for job applications, do take into account the time taken in the process of publication.

Further reading

1. BMJ Case Reports has produced a ‘‘How to’’ guide for completing case report submission: http://casereports.bmj.com/site/about/How_to_complete_full_cases_template.pdf .

2. BMJ Case Reports has produced a clinical case reports template which illustrates the important points in a manuscript and should help you in your writing: http://casereports.bmj.com/site/about/guidelines.xhtml .

3. Some journals recommend patient perspectives in the write up of a case report. An example is at http://casereports.bmj.com/content/2015/bcr-2014-208529.full?sid=bb53a333-2c59-453a-a9bf-5775edc0e5d7 .

Originally published as: Student BMJ 2016;24:h3731

Competing interests: SB and OJ are editors of BMJ Case Reports.

Provenance and peer review: Commissioned; not externally peer reviewed.

• ↵ Broca P. Remarks on the seat of the faculty of articulated language, following an observation of aphemia (loss of speech). Bulletin de la Société Anatomique . 1861 ; 6 : 330 -57. OpenUrl
• ↵ Jones HB. On a new substance occurring in the urine of a patient with mollities ossium. Philosophical Transactions of the Royal Society of London . 1848 ; 138 : 55 -62. OpenUrl CrossRef
• ↵ Parkinson J. An essay on the shaking palsy, 1817. J Neuropsych Clin Neurosci 2002 ; 14 : 223 -6. OpenUrl CrossRef PubMed Web of Science
• ↵ Gottlieb GJ, Ragaz A, Vogel JV, et al. A preliminary communication on extensively disseminated kaposige sarcoma in a young homosexual man. Am J Dermatopath 1981 ; 3 : 111 . OpenUrl CrossRef PubMed Web of Science

• PRO Courses Guides New Tech Help Pro Expert Videos About wikiHow Pro Upgrade Sign In
• EDIT Edit this Article
• EXPLORE Tech Help Pro About Us Random Article Quizzes Request a New Article Community Dashboard This Or That Game Popular Categories Arts and Entertainment Artwork Books Movies Computers and Electronics Computers Phone Skills Technology Hacks Health Men's Health Mental Health Women's Health Relationships Dating Love Relationship Issues Hobbies and Crafts Crafts Drawing Games Education & Communication Communication Skills Personal Development Studying Personal Care and Style Fashion Hair Care Personal Hygiene Youth Personal Care School Stuff Dating All Categories Arts and Entertainment Finance and Business Home and Garden Relationship Quizzes Cars & Other Vehicles Food and Entertaining Personal Care and Style Sports and Fitness Computers and Electronics Health Pets and Animals Travel Education & Communication Hobbies and Crafts Philosophy and Religion Work World Family Life Holidays and Traditions Relationships Youth
• Browse Articles
• Learn Something New
• Quizzes Hot
• This Or That Game New
• Train Your Brain
• Explore More
• Support wikiHow
• About wikiHow
• Log in / Sign up
• Education and Communications
• Medical Studies

How to Write a Medical Case Study Report

Last Updated: July 5, 2022 Fact Checked

This article was medically reviewed by Mark Ziats, MD, PhD and by wikiHow staff writer, Jennifer Mueller, JD . Dr. Mark Ziats is an Internal Medicine Physician, Scientist, Entrepreneur, and the Medical Director of xBiotech. With over five years of experience, he specializes in biotechnology, genomics, and medical devices. He earned a Doctor of Medicine degree from Baylor College of Medicine, a Ph.D. in Genetics from the University of Cambridge, and a BS in Biochemistry and Chemistry from Clemson University. He also completed the INNoVATE Program in Biotechnology Entrepreneurship at The Johns Hopkins University - Carey Business School. Dr. Ziats is board certified by the American Board of Internal Medicine. There are 16 references cited in this article, which can be found at the bottom of the page. This article has been fact-checked, ensuring the accuracy of any cited facts and confirming the authority of its sources. This article has been viewed 185,855 times.

You've encountered an interesting and unusual case on your rounds, and a colleague or supervising physician says, "Why don't you write up a case study report?" If you've never written one before, that might sound intimidating, but it's a great way to get started in medical writing. Case studies always follow a standard structure and format, so the writing is very formulaic once you get the hang of it. Read on for a step-by-step guide to writing your first case study report.

What is a case study report?

• Medical students or residents typically do the bulk of the writing of the report. If you're just starting your medical career, a case study report is a great way to get a publication under your belt. [2] X Research source

• If the patient is a minor or is incapable of giving informed consent, get consent from their parents or closest relative. [4] X Trustworthy Source PubMed Central Journal archive from the U.S. National Institutes of Health Go to source
• Your hospital likely has specific consent forms to use. Ask your supervising physician if you're not sure where to get one.
• Some journals also have their own consent form. Check your target journal's author or submission information to make sure. [5] X Research source

How is a case study report structured?

• Even though the introduction is the first part of a case study report, doctors typically write it last. You'll have a better idea of how to introduce your case study to readers after you've written it.
• Your abstract comes at the top, before the introduction, and provides a brief summary of the entire report. Unless your case study is published in an open-access journal, the abstract is the only part of the article many readers will see.

• Many journals offer templates and checklists you can use to make sure your case study includes everything necessary and is formatted properly—take advantage of these! Some journals, such as BMJ Case Reports , require all case studies submitted to use their templates.

Drafting Your Medical Case Study Report

• Patient description
• Chronological case history
• Physical exam results
• Results of any pathological tests, imaging, or other investigations
• Treatment plan
• Expected outcome of treatment
• Actual outcome of treatment

• Why the patient sought medical help (you can even use their own words)
• Important information that helped you settle on your diagnosis
• The results of your clinical examination, including diagnostic tests and their results, along with any helpful images
• A description of the treatment plan
• The outcome, including how and why treatment ended and how long the patient was under your care [11] X Trustworthy Source PubMed Central Journal archive from the U.S. National Institutes of Health Go to source

• You will need references to back up symptoms of the condition, common treatment, and the expected outcome of that common treatment.
• Use your research to paint a picture of the usual case of a patient with a similar condition—it'll help you show how unusual and different your patient's case is.
• Generally, aim for around 20 references—no fewer than 15, but no more than 25. [13] X Trustworthy Source PubMed Central Journal archive from the U.S. National Institutes of Health Go to source

• Close your discussion section with a summary of the lessons learned from the case and why it's significant to consider when treating similar cases in the future.
• Outline any open questions that remain. You might also provide suggestions for future research.

• In your conclusion, you might also give suggestions or recommendations to readers based on what you learned as a result of the case.
• Some journals don't want a separate conclusion section. If that's the case for one of your target journals, just move this paragraph to the end of your discussion section.

Polishing Your Report for Submission to Publishers

• Most titles are fewer than 10 words long and include the name of the disease or condition treated.
• You might also include the treatment used and whether the outcome was successful. When deciding what to include, think about the reason you wrote the case study in the first place and why you think it's important for other clinicians to read.

• Made a significant intellectual contribution to the case study report
• Was involved in the medical care of the patient reported
• Can explain and defend the data presented in the report
• Has approved the final manuscript before submission for publication

• Keep in mind that the abstract is not just going to be the first thing people read—it will often be the only thing people read. Make sure that if someone is going to walk away having only read the abstract, they'll still get the same message they would have if they read the whole thing.
• There are 2 basic types of abstract: narrative and structured. A narrative abstract is a single paragraph written in narrative prose. A structured abstract includes headings that correspond with the sections of the paper, then a brief summary of each section. Use the format preferred by your target journal.

• Look for keywords that are relevant to your field or sub-field and directly related to the content of your article, such as the name of the condition or specific treatments you used.
• Most journals allow 4-8 keywords but check the submission guidelines of your target journal to make sure.

• Blur out the patient's face as well as any tattoos, birthmarks, or unrelated scars that are visible in diagnostic images.

• It's common to thank the patient, but that's up to you. Even if you don't, include a statement indicating that you have the patient's written, informed consent to publish the information.
• Read the journal's submission guidelines for a definition of what that journal considers a conflict of interest. They're generally the same, but some might be stricter than others. [22] X Research source

• If you're not familiar with the citation style used by your target journal, check online for a guide. There might also be one available at your hospital or medical school library.
• Medical librarians can also help with citation style and references if you run into something tricky—don't just wing it! Correct citation style insures that readers can access the materials you cite.

• It's also a good idea to get a beta reader who isn't a medical professional. Their comments can help you figure out where you need to clarify your points.
• Read a lot of case studies published in your target journals—it will help you internalize the tone and style that journal is looking for.

Submitting Your Report to Publishers

• Look into the background and reputation of journals before you decide to submit to them. Only seek publication from reputable journals in which articles go through a peer-review process.
• Find out what publishing fees the journals charge. Keep in mind that open-access journals tend to charge higher publishing fees. [26] X Research source
• Read each journal's submission and editorial guidelines carefully. They'll tell you exactly how to format your case study, how long each section should be, and what citation style to use. [27] X Research source
• For electronic journals that only publish case reports, try BMJ Case Reports , Journal of Medical Case Reports , or Radiology Case Reports .

• If your manuscript isn't suitable for the journal you submitted to, the journal might offer to forward it to an associated journal where it would be a better fit.
• When your manuscript is provisionally accepted, the journal will send it to other doctors for evaluation under the peer-review process.
• Most medical journals don't accept simultaneous submissions, meaning you'll have to submit to your first choice, wait for their decision, then move to the next journal on the list if they don't bite.

• Along with your revised manuscript, include a letter with your response to each of the reviewer's comments. Where you made revisions, add page numbers to indicate where the revisions are that address that reviewer's comments.
• Sometimes, doctors involved in the peer review process will indicate that the journal should reject the manuscript. If that's the case, you'll get a letter explaining why your case study report won't be published and you're free to submit it elsewhere.

• Some journals require you to have your article professionally copy-edited at your own cost while others do this in-house. The editors will let you know what you're responsible for.

• With your acceptance letter, you'll get instructions on how to make payment and how much you owe. Take note of the deadline and make sure you pay it as soon as possible to avoid publication delays.
• Some journals will publish for free, with an "open-access option" that allows you to pay a fee only if you want open access to your article. [32] X Research source

• Through the publishing agreement, you assign your copyright in the article to the journal. This allows the journal to legally publish your work. That assignment can be exclusive or non-exclusive and may only last for a specific term. Read these details carefully!
• If you published an open-access article, you don't assign the copyright to the publisher. The publishing agreement merely gives the journal the right to publish the "Version of Record." [34] X Research source

How do I find a suitable case for a report?

• A rare disease, or unusual presentation of any disease
• An unusual combination of diseases or conditions
• A difficult or inconclusive diagnosis
• Unexpected developments or responses to treatment
• Personal impact
• Observations that shed new light on the patient's disease or condition

• There might be other members of your medical team that want to help with writing. If so, use one of these brainstorming sessions to divvy up writing responsibilities in a way that makes the most sense given your relative skills and experience.
• Senior doctors might also be able to name some journals that would potentially publish your case study. [37] X Research source

Expert Q&A

You Might Also Like

• ↑ https://www.elsevier.com/connect/authors-update/the-dos-and-donts-of-writing-and-publishing-case-reports
• ↑ https://www.bmj.com/content/350/bmj.h2693
• ↑ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5686928/
• ↑ https://health.usf.edu/medicine/internalmedicine/im-impact/~/media/B3A3421F4C144FA090AE965C21791A3C.ashx
• ↑ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2597880/
• ↑ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6476221/
• ↑ https://www.springer.com/gp/authors-editors/authorandreviewertutorials/writing-a-journal-manuscript/title-abstract-and-keywords/10285522
• ↑ http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2597880/
• ↑ https://thelancet.com/pb/assets/raw/Lancet/authors/tl-info-for-authors.pdf
• ↑ https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-017-1351-y
• ↑ https://guides.himmelfarb.gwu.edu/casereports
• ↑ https://casereports.bmj.com/pages/authors/
• ↑ https://jmedicalcasereports.biomedcentral.com/articles/10.1186/1752-1947-7-239
• ↑ https://research.chm.msu.edu/students-residents/writing-a-case-report
• ↑ https://www.elsevier.com/__data/assets/pdf_file/0006/98619/Sample-P-copyright-2.pdf
• ↑ https://authorservices.taylorandfrancis.com/publishing-your-research/moving-through-production/copyright-for-journal-authors/#

About This Article

Medical Disclaimer

The content of this article is not intended to be a substitute for professional medical advice, examination, diagnosis, or treatment. You should always contact your doctor or other qualified healthcare professional before starting, changing, or stopping any kind of health treatment.

Read More...

To start a medical case study report, first choose a title that clearly reflects the contents of the report. You’ll also need to list any participating authors and develop a list of keywords, as well as an abstract summarizing the report. Your report will need to include an introduction summarizing the context of the report, as well as a detailed presentation of the case. Don’t forget to include a thorough citation list and acknowledgements of anyone else who participated in the study. For more tips from our Medical co-author, including how to get your case study report published, keep reading! Did this summary help you? Yes No

• Send fan mail to authors

Reader Success Stories

Sep 5, 2020

Did this article help you?

Asfia Banu Pasha

Apr 10, 2017

Jun 20, 2021

Mar 1, 2017

Featured Articles

Trending Articles

Watch Articles

• Terms of Use
• Privacy Policy
• Do Not Sell or Share My Info
• Not Selling Info

Get all the best how-tos!

Sign up for wikiHow's weekly email newsletter

• Open access
• Published: 27 June 2011

The case study approach

• Sarah Crowe 1 ,
• Kathrin Cresswell 2 ,
• Ann Robertson 2 ,
• Guro Huby 3 ,
• Anthony Avery 1 &
• Aziz Sheikh 2  

BMC Medical Research Methodology volume  11 , Article number:  100 ( 2011 ) Cite this article

760k Accesses

1022 Citations

38 Altmetric

Metrics details

The case study approach allows in-depth, multi-faceted explorations of complex issues in their real-life settings. The value of the case study approach is well recognised in the fields of business, law and policy, but somewhat less so in health services research. Based on our experiences of conducting several health-related case studies, we reflect on the different types of case study design, the specific research questions this approach can help answer, the data sources that tend to be used, and the particular advantages and disadvantages of employing this methodological approach. The paper concludes with key pointers to aid those designing and appraising proposals for conducting case study research, and a checklist to help readers assess the quality of case study reports.

Peer Review reports

Introduction

The case study approach is particularly useful to employ when there is a need to obtain an in-depth appreciation of an issue, event or phenomenon of interest, in its natural real-life context. Our aim in writing this piece is to provide insights into when to consider employing this approach and an overview of key methodological considerations in relation to the design, planning, analysis, interpretation and reporting of case studies.

The illustrative 'grand round', 'case report' and 'case series' have a long tradition in clinical practice and research. Presenting detailed critiques, typically of one or more patients, aims to provide insights into aspects of the clinical case and, in doing so, illustrate broader lessons that may be learnt. In research, the conceptually-related case study approach can be used, for example, to describe in detail a patient's episode of care, explore professional attitudes to and experiences of a new policy initiative or service development or more generally to 'investigate contemporary phenomena within its real-life context' [ 1 ]. Based on our experiences of conducting a range of case studies, we reflect on when to consider using this approach, discuss the key steps involved and illustrate, with examples, some of the practical challenges of attaining an in-depth understanding of a 'case' as an integrated whole. In keeping with previously published work, we acknowledge the importance of theory to underpin the design, selection, conduct and interpretation of case studies[ 2 ]. In so doing, we make passing reference to the different epistemological approaches used in case study research by key theoreticians and methodologists in this field of enquiry.

This paper is structured around the following main questions: What is a case study? What are case studies used for? How are case studies conducted? What are the potential pitfalls and how can these be avoided? We draw in particular on four of our own recently published examples of case studies (see Tables 1 , 2 , 3 and 4 ) and those of others to illustrate our discussion[ 3 – 7 ].

What is a case study?

A case study is a research approach that is used to generate an in-depth, multi-faceted understanding of a complex issue in its real-life context. It is an established research design that is used extensively in a wide variety of disciplines, particularly in the social sciences. A case study can be defined in a variety of ways (Table 5 ), the central tenet being the need to explore an event or phenomenon in depth and in its natural context. It is for this reason sometimes referred to as a "naturalistic" design; this is in contrast to an "experimental" design (such as a randomised controlled trial) in which the investigator seeks to exert control over and manipulate the variable(s) of interest.

Stake's work has been particularly influential in defining the case study approach to scientific enquiry. He has helpfully characterised three main types of case study: intrinsic , instrumental and collective [ 8 ]. An intrinsic case study is typically undertaken to learn about a unique phenomenon. The researcher should define the uniqueness of the phenomenon, which distinguishes it from all others. In contrast, the instrumental case study uses a particular case (some of which may be better than others) to gain a broader appreciation of an issue or phenomenon. The collective case study involves studying multiple cases simultaneously or sequentially in an attempt to generate a still broader appreciation of a particular issue.

These are however not necessarily mutually exclusive categories. In the first of our examples (Table 1 ), we undertook an intrinsic case study to investigate the issue of recruitment of minority ethnic people into the specific context of asthma research studies, but it developed into a instrumental case study through seeking to understand the issue of recruitment of these marginalised populations more generally, generating a number of the findings that are potentially transferable to other disease contexts[ 3 ]. In contrast, the other three examples (see Tables 2 , 3 and 4 ) employed collective case study designs to study the introduction of workforce reconfiguration in primary care, the implementation of electronic health records into hospitals, and to understand the ways in which healthcare students learn about patient safety considerations[ 4 – 6 ]. Although our study focusing on the introduction of General Practitioners with Specialist Interests (Table 2 ) was explicitly collective in design (four contrasting primary care organisations were studied), is was also instrumental in that this particular professional group was studied as an exemplar of the more general phenomenon of workforce redesign[ 4 ].

What are case studies used for?

According to Yin, case studies can be used to explain, describe or explore events or phenomena in the everyday contexts in which they occur[ 1 ]. These can, for example, help to understand and explain causal links and pathways resulting from a new policy initiative or service development (see Tables 2 and 3 , for example)[ 1 ]. In contrast to experimental designs, which seek to test a specific hypothesis through deliberately manipulating the environment (like, for example, in a randomised controlled trial giving a new drug to randomly selected individuals and then comparing outcomes with controls),[ 9 ] the case study approach lends itself well to capturing information on more explanatory ' how ', 'what' and ' why ' questions, such as ' how is the intervention being implemented and received on the ground?'. The case study approach can offer additional insights into what gaps exist in its delivery or why one implementation strategy might be chosen over another. This in turn can help develop or refine theory, as shown in our study of the teaching of patient safety in undergraduate curricula (Table 4 )[ 6 , 10 ]. Key questions to consider when selecting the most appropriate study design are whether it is desirable or indeed possible to undertake a formal experimental investigation in which individuals and/or organisations are allocated to an intervention or control arm? Or whether the wish is to obtain a more naturalistic understanding of an issue? The former is ideally studied using a controlled experimental design, whereas the latter is more appropriately studied using a case study design.

Case studies may be approached in different ways depending on the epistemological standpoint of the researcher, that is, whether they take a critical (questioning one's own and others' assumptions), interpretivist (trying to understand individual and shared social meanings) or positivist approach (orientating towards the criteria of natural sciences, such as focusing on generalisability considerations) (Table 6 ). Whilst such a schema can be conceptually helpful, it may be appropriate to draw on more than one approach in any case study, particularly in the context of conducting health services research. Doolin has, for example, noted that in the context of undertaking interpretative case studies, researchers can usefully draw on a critical, reflective perspective which seeks to take into account the wider social and political environment that has shaped the case[ 11 ].

How are case studies conducted?

Here, we focus on the main stages of research activity when planning and undertaking a case study; the crucial stages are: defining the case; selecting the case(s); collecting and analysing the data; interpreting data; and reporting the findings.

Defining the case

Carefully formulated research question(s), informed by the existing literature and a prior appreciation of the theoretical issues and setting(s), are all important in appropriately and succinctly defining the case[ 8 , 12 ]. Crucially, each case should have a pre-defined boundary which clarifies the nature and time period covered by the case study (i.e. its scope, beginning and end), the relevant social group, organisation or geographical area of interest to the investigator, the types of evidence to be collected, and the priorities for data collection and analysis (see Table 7 )[ 1 ]. A theory driven approach to defining the case may help generate knowledge that is potentially transferable to a range of clinical contexts and behaviours; using theory is also likely to result in a more informed appreciation of, for example, how and why interventions have succeeded or failed[ 13 ].

For example, in our evaluation of the introduction of electronic health records in English hospitals (Table 3 ), we defined our cases as the NHS Trusts that were receiving the new technology[ 5 ]. Our focus was on how the technology was being implemented. However, if the primary research interest had been on the social and organisational dimensions of implementation, we might have defined our case differently as a grouping of healthcare professionals (e.g. doctors and/or nurses). The precise beginning and end of the case may however prove difficult to define. Pursuing this same example, when does the process of implementation and adoption of an electronic health record system really begin or end? Such judgements will inevitably be influenced by a range of factors, including the research question, theory of interest, the scope and richness of the gathered data and the resources available to the research team.

Selecting the case(s)

The decision on how to select the case(s) to study is a very important one that merits some reflection. In an intrinsic case study, the case is selected on its own merits[ 8 ]. The case is selected not because it is representative of other cases, but because of its uniqueness, which is of genuine interest to the researchers. This was, for example, the case in our study of the recruitment of minority ethnic participants into asthma research (Table 1 ) as our earlier work had demonstrated the marginalisation of minority ethnic people with asthma, despite evidence of disproportionate asthma morbidity[ 14 , 15 ]. In another example of an intrinsic case study, Hellstrom et al.[ 16 ] studied an elderly married couple living with dementia to explore how dementia had impacted on their understanding of home, their everyday life and their relationships.

For an instrumental case study, selecting a "typical" case can work well[ 8 ]. In contrast to the intrinsic case study, the particular case which is chosen is of less importance than selecting a case that allows the researcher to investigate an issue or phenomenon. For example, in order to gain an understanding of doctors' responses to health policy initiatives, Som undertook an instrumental case study interviewing clinicians who had a range of responsibilities for clinical governance in one NHS acute hospital trust[ 17 ]. Sampling a "deviant" or "atypical" case may however prove even more informative, potentially enabling the researcher to identify causal processes, generate hypotheses and develop theory.

In collective or multiple case studies, a number of cases are carefully selected. This offers the advantage of allowing comparisons to be made across several cases and/or replication. Choosing a "typical" case may enable the findings to be generalised to theory (i.e. analytical generalisation) or to test theory by replicating the findings in a second or even a third case (i.e. replication logic)[ 1 ]. Yin suggests two or three literal replications (i.e. predicting similar results) if the theory is straightforward and five or more if the theory is more subtle. However, critics might argue that selecting 'cases' in this way is insufficiently reflexive and ill-suited to the complexities of contemporary healthcare organisations.

The selected case study site(s) should allow the research team access to the group of individuals, the organisation, the processes or whatever else constitutes the chosen unit of analysis for the study. Access is therefore a central consideration; the researcher needs to come to know the case study site(s) well and to work cooperatively with them. Selected cases need to be not only interesting but also hospitable to the inquiry [ 8 ] if they are to be informative and answer the research question(s). Case study sites may also be pre-selected for the researcher, with decisions being influenced by key stakeholders. For example, our selection of case study sites in the evaluation of the implementation and adoption of electronic health record systems (see Table 3 ) was heavily influenced by NHS Connecting for Health, the government agency that was responsible for overseeing the National Programme for Information Technology (NPfIT)[ 5 ]. This prominent stakeholder had already selected the NHS sites (through a competitive bidding process) to be early adopters of the electronic health record systems and had negotiated contracts that detailed the deployment timelines.

It is also important to consider in advance the likely burden and risks associated with participation for those who (or the site(s) which) comprise the case study. Of particular importance is the obligation for the researcher to think through the ethical implications of the study (e.g. the risk of inadvertently breaching anonymity or confidentiality) and to ensure that potential participants/participating sites are provided with sufficient information to make an informed choice about joining the study. The outcome of providing this information might be that the emotive burden associated with participation, or the organisational disruption associated with supporting the fieldwork, is considered so high that the individuals or sites decide against participation.

In our example of evaluating implementations of electronic health record systems, given the restricted number of early adopter sites available to us, we sought purposively to select a diverse range of implementation cases among those that were available[ 5 ]. We chose a mixture of teaching, non-teaching and Foundation Trust hospitals, and examples of each of the three electronic health record systems procured centrally by the NPfIT. At one recruited site, it quickly became apparent that access was problematic because of competing demands on that organisation. Recognising the importance of full access and co-operative working for generating rich data, the research team decided not to pursue work at that site and instead to focus on other recruited sites.

Collecting the data

In order to develop a thorough understanding of the case, the case study approach usually involves the collection of multiple sources of evidence, using a range of quantitative (e.g. questionnaires, audits and analysis of routinely collected healthcare data) and more commonly qualitative techniques (e.g. interviews, focus groups and observations). The use of multiple sources of data (data triangulation) has been advocated as a way of increasing the internal validity of a study (i.e. the extent to which the method is appropriate to answer the research question)[ 8 , 18 – 21 ]. An underlying assumption is that data collected in different ways should lead to similar conclusions, and approaching the same issue from different angles can help develop a holistic picture of the phenomenon (Table 2 )[ 4 ].

Brazier and colleagues used a mixed-methods case study approach to investigate the impact of a cancer care programme[ 22 ]. Here, quantitative measures were collected with questionnaires before, and five months after, the start of the intervention which did not yield any statistically significant results. Qualitative interviews with patients however helped provide an insight into potentially beneficial process-related aspects of the programme, such as greater, perceived patient involvement in care. The authors reported how this case study approach provided a number of contextual factors likely to influence the effectiveness of the intervention and which were not likely to have been obtained from quantitative methods alone.

In collective or multiple case studies, data collection needs to be flexible enough to allow a detailed description of each individual case to be developed (e.g. the nature of different cancer care programmes), before considering the emerging similarities and differences in cross-case comparisons (e.g. to explore why one programme is more effective than another). It is important that data sources from different cases are, where possible, broadly comparable for this purpose even though they may vary in nature and depth.

Analysing, interpreting and reporting case studies

Making sense and offering a coherent interpretation of the typically disparate sources of data (whether qualitative alone or together with quantitative) is far from straightforward. Repeated reviewing and sorting of the voluminous and detail-rich data are integral to the process of analysis. In collective case studies, it is helpful to analyse data relating to the individual component cases first, before making comparisons across cases. Attention needs to be paid to variations within each case and, where relevant, the relationship between different causes, effects and outcomes[ 23 ]. Data will need to be organised and coded to allow the key issues, both derived from the literature and emerging from the dataset, to be easily retrieved at a later stage. An initial coding frame can help capture these issues and can be applied systematically to the whole dataset with the aid of a qualitative data analysis software package.

The Framework approach is a practical approach, comprising of five stages (familiarisation; identifying a thematic framework; indexing; charting; mapping and interpretation) , to managing and analysing large datasets particularly if time is limited, as was the case in our study of recruitment of South Asians into asthma research (Table 1 )[ 3 , 24 ]. Theoretical frameworks may also play an important role in integrating different sources of data and examining emerging themes. For example, we drew on a socio-technical framework to help explain the connections between different elements - technology; people; and the organisational settings within which they worked - in our study of the introduction of electronic health record systems (Table 3 )[ 5 ]. Our study of patient safety in undergraduate curricula drew on an evaluation-based approach to design and analysis, which emphasised the importance of the academic, organisational and practice contexts through which students learn (Table 4 )[ 6 ].

Case study findings can have implications both for theory development and theory testing. They may establish, strengthen or weaken historical explanations of a case and, in certain circumstances, allow theoretical (as opposed to statistical) generalisation beyond the particular cases studied[ 12 ]. These theoretical lenses should not, however, constitute a strait-jacket and the cases should not be "forced to fit" the particular theoretical framework that is being employed.

When reporting findings, it is important to provide the reader with enough contextual information to understand the processes that were followed and how the conclusions were reached. In a collective case study, researchers may choose to present the findings from individual cases separately before amalgamating across cases. Care must be taken to ensure the anonymity of both case sites and individual participants (if agreed in advance) by allocating appropriate codes or withholding descriptors. In the example given in Table 3 , we decided against providing detailed information on the NHS sites and individual participants in order to avoid the risk of inadvertent disclosure of identities[ 5 , 25 ].

What are the potential pitfalls and how can these be avoided?

The case study approach is, as with all research, not without its limitations. When investigating the formal and informal ways undergraduate students learn about patient safety (Table 4 ), for example, we rapidly accumulated a large quantity of data. The volume of data, together with the time restrictions in place, impacted on the depth of analysis that was possible within the available resources. This highlights a more general point of the importance of avoiding the temptation to collect as much data as possible; adequate time also needs to be set aside for data analysis and interpretation of what are often highly complex datasets.

Case study research has sometimes been criticised for lacking scientific rigour and providing little basis for generalisation (i.e. producing findings that may be transferable to other settings)[ 1 ]. There are several ways to address these concerns, including: the use of theoretical sampling (i.e. drawing on a particular conceptual framework); respondent validation (i.e. participants checking emerging findings and the researcher's interpretation, and providing an opinion as to whether they feel these are accurate); and transparency throughout the research process (see Table 8 )[ 8 , 18 – 21 , 23 , 26 ]. Transparency can be achieved by describing in detail the steps involved in case selection, data collection, the reasons for the particular methods chosen, and the researcher's background and level of involvement (i.e. being explicit about how the researcher has influenced data collection and interpretation). Seeking potential, alternative explanations, and being explicit about how interpretations and conclusions were reached, help readers to judge the trustworthiness of the case study report. Stake provides a critique checklist for a case study report (Table 9 )[ 8 ].

Conclusions

The case study approach allows, amongst other things, critical events, interventions, policy developments and programme-based service reforms to be studied in detail in a real-life context. It should therefore be considered when an experimental design is either inappropriate to answer the research questions posed or impossible to undertake. Considering the frequency with which implementations of innovations are now taking place in healthcare settings and how well the case study approach lends itself to in-depth, complex health service research, we believe this approach should be more widely considered by researchers. Though inherently challenging, the research case study can, if carefully conceptualised and thoughtfully undertaken and reported, yield powerful insights into many important aspects of health and healthcare delivery.

Yin RK: Case study research, design and method. 2009, London: Sage Publications Ltd., 4

Google Scholar  

Keen J, Packwood T: Qualitative research; case study evaluation. BMJ. 1995, 311: 444-446.

Article   CAS   PubMed   PubMed Central   Google Scholar  

Sheikh A, Halani L, Bhopal R, Netuveli G, Partridge M, Car J, et al: Facilitating the Recruitment of Minority Ethnic People into Research: Qualitative Case Study of South Asians and Asthma. PLoS Med. 2009, 6 (10): 1-11.

Article   Google Scholar  

Pinnock H, Huby G, Powell A, Kielmann T, Price D, Williams S, et al: The process of planning, development and implementation of a General Practitioner with a Special Interest service in Primary Care Organisations in England and Wales: a comparative prospective case study. Report for the National Co-ordinating Centre for NHS Service Delivery and Organisation R&D (NCCSDO). 2008, [ http://www.sdo.nihr.ac.uk/files/project/99-final-report.pdf ]

Robertson A, Cresswell K, Takian A, Petrakaki D, Crowe S, Cornford T, et al: Prospective evaluation of the implementation and adoption of NHS Connecting for Health's national electronic health record in secondary care in England: interim findings. BMJ. 2010, 41: c4564-

Pearson P, Steven A, Howe A, Sheikh A, Ashcroft D, Smith P, the Patient Safety Education Study Group: Learning about patient safety: organisational context and culture in the education of healthcare professionals. J Health Serv Res Policy. 2010, 15: 4-10. 10.1258/jhsrp.2009.009052.

Article   PubMed   Google Scholar  

van Harten WH, Casparie TF, Fisscher OA: The evaluation of the introduction of a quality management system: a process-oriented case study in a large rehabilitation hospital. Health Policy. 2002, 60 (1): 17-37. 10.1016/S0168-8510(01)00187-7.

Stake RE: The art of case study research. 1995, London: Sage Publications Ltd.

Sheikh A, Smeeth L, Ashcroft R: Randomised controlled trials in primary care: scope and application. Br J Gen Pract. 2002, 52 (482): 746-51.

PubMed   PubMed Central   Google Scholar  

King G, Keohane R, Verba S: Designing Social Inquiry. 1996, Princeton: Princeton University Press

Doolin B: Information technology as disciplinary technology: being critical in interpretative research on information systems. Journal of Information Technology. 1998, 13: 301-311. 10.1057/jit.1998.8.

George AL, Bennett A: Case studies and theory development in the social sciences. 2005, Cambridge, MA: MIT Press

Eccles M, the Improved Clinical Effectiveness through Behavioural Research Group (ICEBeRG): Designing theoretically-informed implementation interventions. Implementation Science. 2006, 1: 1-8. 10.1186/1748-5908-1-1.

Article   PubMed Central   Google Scholar  

Netuveli G, Hurwitz B, Levy M, Fletcher M, Barnes G, Durham SR, Sheikh A: Ethnic variations in UK asthma frequency, morbidity, and health-service use: a systematic review and meta-analysis. Lancet. 2005, 365 (9456): 312-7.

Sheikh A, Panesar SS, Lasserson T, Netuveli G: Recruitment of ethnic minorities to asthma studies. Thorax. 2004, 59 (7): 634-

CAS   PubMed   PubMed Central   Google Scholar  

Hellström I, Nolan M, Lundh U: 'We do things together': A case study of 'couplehood' in dementia. Dementia. 2005, 4: 7-22. 10.1177/1471301205049188.

Som CV: Nothing seems to have changed, nothing seems to be changing and perhaps nothing will change in the NHS: doctors' response to clinical governance. International Journal of Public Sector Management. 2005, 18: 463-477. 10.1108/09513550510608903.

Lincoln Y, Guba E: Naturalistic inquiry. 1985, Newbury Park: Sage Publications

Barbour RS: Checklists for improving rigour in qualitative research: a case of the tail wagging the dog?. BMJ. 2001, 322: 1115-1117. 10.1136/bmj.322.7294.1115.

Mays N, Pope C: Qualitative research in health care: Assessing quality in qualitative research. BMJ. 2000, 320: 50-52. 10.1136/bmj.320.7226.50.

Mason J: Qualitative researching. 2002, London: Sage

Brazier A, Cooke K, Moravan V: Using Mixed Methods for Evaluating an Integrative Approach to Cancer Care: A Case Study. Integr Cancer Ther. 2008, 7: 5-17. 10.1177/1534735407313395.

Miles MB, Huberman M: Qualitative data analysis: an expanded sourcebook. 1994, CA: Sage Publications Inc., 2

Pope C, Ziebland S, Mays N: Analysing qualitative data. Qualitative research in health care. BMJ. 2000, 320: 114-116. 10.1136/bmj.320.7227.114.

Cresswell KM, Worth A, Sheikh A: Actor-Network Theory and its role in understanding the implementation of information technology developments in healthcare. BMC Med Inform Decis Mak. 2010, 10 (1): 67-10.1186/1472-6947-10-67.

Article   PubMed   PubMed Central   Google Scholar  

Malterud K: Qualitative research: standards, challenges, and guidelines. Lancet. 2001, 358: 483-488. 10.1016/S0140-6736(01)05627-6.

Article   CAS   PubMed   Google Scholar  

Yin R: Case study research: design and methods. 1994, Thousand Oaks, CA: Sage Publishing, 2

Yin R: Enhancing the quality of case studies in health services research. Health Serv Res. 1999, 34: 1209-1224.

Green J, Thorogood N: Qualitative methods for health research. 2009, Los Angeles: Sage, 2

Howcroft D, Trauth E: Handbook of Critical Information Systems Research, Theory and Application. 2005, Cheltenham, UK: Northampton, MA, USA: Edward Elgar

Book   Google Scholar  

Blakie N: Approaches to Social Enquiry. 1993, Cambridge: Polity Press

Doolin B: Power and resistance in the implementation of a medical management information system. Info Systems J. 2004, 14: 343-362. 10.1111/j.1365-2575.2004.00176.x.

Bloomfield BP, Best A: Management consultants: systems development, power and the translation of problems. Sociological Review. 1992, 40: 533-560.

Shanks G, Parr A: Positivist, single case study research in information systems: A critical analysis. Proceedings of the European Conference on Information Systems. 2003, Naples

Pre-publication history

The pre-publication history for this paper can be accessed here: http://www.biomedcentral.com/1471-2288/11/100/prepub

Download references

Acknowledgements

We are grateful to the participants and colleagues who contributed to the individual case studies that we have drawn on. This work received no direct funding, but it has been informed by projects funded by Asthma UK, the NHS Service Delivery Organisation, NHS Connecting for Health Evaluation Programme, and Patient Safety Research Portfolio. We would also like to thank the expert reviewers for their insightful and constructive feedback. Our thanks are also due to Dr. Allison Worth who commented on an earlier draft of this manuscript.

Author information

Authors and affiliations.

Division of Primary Care, The University of Nottingham, Nottingham, UK

Sarah Crowe & Anthony Avery

Centre for Population Health Sciences, The University of Edinburgh, Edinburgh, UK

Kathrin Cresswell, Ann Robertson & Aziz Sheikh

School of Health in Social Science, The University of Edinburgh, Edinburgh, UK

You can also search for this author in PubMed   Google Scholar

Corresponding author

Correspondence to Sarah Crowe .

Additional information

Competing interests.

The authors declare that they have no competing interests.

Authors' contributions

AS conceived this article. SC, KC and AR wrote this paper with GH, AA and AS all commenting on various drafts. SC and AS are guarantors.

Rights and permissions

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/2.0 ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Reprints and permissions

About this article

Cite this article.

Crowe, S., Cresswell, K., Robertson, A. et al. The case study approach. BMC Med Res Methodol 11 , 100 (2011). https://doi.org/10.1186/1471-2288-11-100

Download citation

Received : 29 November 2010

Accepted : 27 June 2011

Published : 27 June 2011

DOI : https://doi.org/10.1186/1471-2288-11-100

Share this article

Anyone you share the following link with will be able to read this content:

Sorry, a shareable link is not currently available for this article.

Provided by the Springer Nature SharedIt content-sharing initiative

• Case Study Approach
• Electronic Health Record System
• Case Study Design
• Case Study Site
• Case Study Report

BMC Medical Research Methodology

ISSN: 1471-2288

• General enquiries: [email protected]

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

• View all journals
• Explore content
• About the journal
• Publish with us
• Sign up for alerts
• Published: November 2006

Case Studies: why are they important?

• Julie Solomon 1  

Nature Clinical Practice Cardiovascular Medicine volume  3 ,  page 579 ( 2006 ) Cite this article

19k Accesses

8 Citations

Metrics details

Nature Clinical Practice Cardiovascular Medicine is a journal designed to lighten the reading load for busy doctors; why, then, does it include Case Studies? Isn't the case study just a bit of light reading? It depends on what it is designed to do. So, what is the role of the Case Study?

Case Studies should act as instructive examples to people who might encounter similar problems. Ideally, in medicine, Case Studies should detail a particular medical case, describing the background of the patient and any clues the physician picked up (or should have, with hindsight). They should discuss investigations undertaken in order to determine a diagnosis or differentiate between possible diagnoses, and should indicate the course of treatment the patient underwent as a result. As a whole, then, Case Studies should be an informative and useful part of every physician's medical education, both during training and on a continuing basis.

It's debatable whether they always achieve this aim. Many journals publish what are often close to anecdotal reports (if they publish articles on individual cases at all), rather than detailed descriptions of a case; furthermore, the cases described are often esoteric or the conditions present on such an infrequent basis that a physician working outside a teaching-hospital environment would be hard-pressed to apply their new knowledge. It would be difficult, therefore, to say whether any conclusions could confidently be drawn by readers as a result of these reports. Most physicians would probably want to do some extra research—either in the literature or by canvassing opinions of colleagues.

By proposing, peer-reviewing and reading the Case Studies, you and your fellow physicians could gain a broader understanding of clinical diagnoses, treatments and outcomes.

In this light, then, Nature Clinical Practice Cardiovascular Medicine Case Studies have a specific aim: to help established physicians as well as trainees to improve patient care, without adding to their workload. Rather than being merely anecdotal, they include the etiology, diagnosis and management of a case. Importantly, they give an indication of the decision-making process, so that other physicians can apply lateral thinking to their own cases. Decisions on which of a range of treatment options to follow might involve input from the patient, or might be purely objective, but ideally a Case Study should outline why a particular course was followed. Readers should not have to resort to the Internet or to out-of-date textbooks to find basic background information explaining the reasons for approaching the case in that way; the reasons should be fully explained in the article itself.

Nature Clinical Practice Cardiovascular Medicine Case Studies represent an opportunity to spread the benefit of knowledge across the physical boundaries imposed by looking at one case, in one place, at one time. It's not so that fingers can be pointed at 'incorrect' treatment but instead so that geographical differences in practice can be highlighted, for example, or clearer descriptions be reached to explain a case more completely and accurately.

By proposing, peer-reviewing and reading the Case Studies, you and your fellow physicians could gain a broader understanding of clinical diagnoses, treatments and outcomes. So, we're inviting you to contribute to the further education of your colleagues. Will you meet the challenge?

Author information

Authors and affiliations.

Assistant Publisher of the Nature Clinical Practice journals,

Julie Solomon

You can also search for this author in PubMed   Google Scholar

Ethics declarations

Competing interests.

The author declares no competing financial interests.

Rights and permissions

Reprints and permissions

About this article

Cite this article.

Solomon, J. Case Studies: why are they important?. Nat Rev Cardiol 3 , 579 (2006). https://doi.org/10.1038/ncpcardio0704

Download citation

Issue Date : November 2006

DOI : https://doi.org/10.1038/ncpcardio0704

Share this article

Anyone you share the following link with will be able to read this content:

Sorry, a shareable link is not currently available for this article.

Provided by the Springer Nature SharedIt content-sharing initiative

Quick links

• Explore articles by subject
• Guide to authors
• Editorial policies

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Medical Case Study Template

Utilize our Medical Case Study Template for systematic documentation and analysis of patient cases, enhancing learning and clinical practice.

By Emma Hainsworth on Feb 29, 2024.

Fact Checked by Ericka Pingol.

What is a Medical Case Study Template?

A Medical Case Study Template is a systematic tool used primarily by healthcare professionals and students to document, analyze, and present individual patient cases. It serves as a structured guide, ensuring that all critical aspects of the case are captured and discussed in a standardized format. This includes patient information, clinical history, diagnostic assessments, treatments, and outcomes.

The template typically starts with a title and a brief abstract summarizing the case. It progresses through detailed sections covering patient demographics, symptoms, examination findings, and the results of any diagnostic tests. Treatment plans and their outcomes are also meticulously documented.

One of the key purposes of this template is educational. It facilitates learning by providing a comprehensive overview of real-life clinical scenarios, encouraging critical thinking and analysis. It's also used in medical research and literature to share clinical experiences and insights, contributing to the broader medical community's understanding of various conditions and treatments.

Using a Medical Case Study Template ensures a thorough and uniform approach to case documentation, which is essential for effective learning, discussion, and advancement in medical practice. It emphasizes the importance of detail and accuracy in clinical reporting, enhancing both educational value and patient care.

Printable Medical Case Study Template

Download this Medical Case Study Template used primarily by healthcare professionals and students to document, analyze, and present individual patient cases.

How does it work?

Here's a step-by-step guide to accessing and using our Medical case study template:

Step 1: Access and download the Medical Case Study Template

Click the link on this page to download and access the Medical Case Study Template. The template is available in a user-friendly PDF format, allowing for easy digital viewing and interaction.

You can print the template if a physical copy is preferred for note-taking or group discussions. This is especially useful in educational settings or during team meetings.

Step 2: Understand the structure of the template

Review the template to understand its various sections, which include patient information, clinical history, diagnosis, treatment, and outcome.

Note the specific details required in each section, such as demographic data, symptoms, test results, and follow-up care. Understanding these components is crucial for consistency and comprehensiveness in case documentation.

Step 3: Utilize the template for case documentation

Use the template to systematically record all relevant details of a patient case. This might be for educational purposes, research, or clinical documentation.

Regularly update the template with new information or follow-up details. This is important for tracking the case's progression and observing treatments' effectiveness.

Keep in mind that each patient case is unique. The template should be adaptable to accommodate the specificities of different medical scenarios.

Step 4: Review and share the documented case

Use the documented case for peer discussions, educational sessions, or team reviews. The structured format of the template facilitates easy sharing and collaborative analysis.

Encourage feedback on the documented case to enhance learning and improve clinical practices. The template can be a tool for reflective practice and continuous professional development.

By following these steps, healthcare professionals, educators, and students can effectively use the Medical Case Study Template for a range of purposes. This resource is invaluable for documenting individual cases and as a tool for education, research, and collaborative learning in the medical field.

Medical Case Study Example (sample)

We have provided a comprehensive example as a downloadable PDF to help users effectively utilize the Medical Case Study Template. This sample case study is a practical guide, demonstrating how to document and analyze a clinical case in a structured and detailed manner. It is especially useful for medical professionals, educators, and students in the healthcare field.

The Medical Case Study PDF Example, readily available for download and review, showcases the practical application of the case study template in a real-world clinical setting. The example features a case study highlighting how to systematically record patient information, clinical history, diagnostic assessments, treatment plans, and outcomes.

You can access this valuable resource by either previewing the sample provided below or clicking the "Download Example PDF" button. 

Download this Medical Case Study Template example:

When would you use this Template?

The Medical Case Study Template is an invaluable resource primarily used by healthcare professionals, medical students, and educators in various clinical and educational settings. Its application is particularly relevant and beneficial in several key scenarios.

Clinical education and training

Medical educators often use this template to teach students about real-life medical cases. It provides a structured approach to case analysis, encouraging students to examine all aspects of patient care, from diagnosis to treatment and follow-up. This methodical approach is crucial in developing critical thinking and diagnostic skills.

Peer learning and discussion

The template is used among healthcare professionals as a basis for case discussions, often in grand rounds or peer review meetings. It allows practitioners to present complex cases to colleagues, fostering collaborative analysis and discussion. This shared learning experience can lead to improved patient care strategies and a deeper understanding of rare or challenging cases.

Research and case reporting

When documenting unique or particularly instructive cases for medical research or publication, the Medical Case Study Template provides a comprehensive format. It ensures that all relevant details are systematically presented, making the case valuable for the wider medical community. This is especially important when contributing to medical journals or databases.

Quality improvement initiatives

In quality assurance and improvement activities within healthcare settings, this template can be used to analyze cases that highlight systemic issues or successes. It aids in identifying areas for improvement in patient care processes and protocols.

Personal professional development

For individual healthcare practitioners, the template serves as a tool for reflecting on challenging cases, allowing for self-assessment and continuous professional development.

Benefits of using this template ? 

Using a Medical Case Study Template offers several significant benefits:

• Standardized documentation: The template provides a uniform structure for documenting patient cases. This standardization is crucial for ensuring that all relevant details are consistently recorded and easy to find, which is particularly beneficial when multiple healthcare professionals review cases.
• Enhanced educational value: For medical students and trainees, the template is an educational tool that promotes a thorough understanding of clinical cases. It encourages a holistic view of patient care, encompassing diagnosis, treatment, and follow-up, and helps in developing critical thinking and analytical skills.
• Improved communication: When discussing patient cases with peers or in academic settings, the template aids in clear and concise communication. It ensures that all necessary information is presented in an organized manner, facilitating better understanding and discussion among medical professionals.
• Quality of care and patient safety: By systematically documenting and reviewing patient cases, healthcare providers can identify trends, successes, and areas for improvement in treatment protocols. This can lead to enhanced patient safety and overall quality of care.
• Facilitates research and publication: The template is invaluable for practitioners looking to publish case reports in medical journals. It ensures that the case is documented in a comprehensive and systematic manner, meeting the standards required for academic and research publications.
• Professional development: Regular use of the template encourages practitioners to reflect on their clinical practice, helping them to identify areas for professional growth and development.
• Consistency in case analysis: The template provides a consistent framework for analyzing and discussing patient cases. This consistency is essential for comparative analysis and for understanding the nuances of different cases.
• Time efficiency: With a set structure in place, healthcare professionals can save time in documenting and reviewing cases, as they do not have to create a new format each time.

Commonly asked questions

A Medical Case Study Template is a structured document used to record and analyze patient cases in a systematic and detailed manner. It helps in documenting patient history, diagnosis, treatment, and follow-up, ensuring all crucial aspects of the case are covered.

Medical professionals, including doctors, nurses, and therapists, as well as medical students and educators, can benefit from using this template. It's also useful for researchers and clinicians involved in case studies for publication or presentation.

The template ensures comprehensive documentation of patient cases, which aids in better understanding and analyzing the patient's condition and treatment outcomes. This thorough approach can lead to more informed and effective patient care strategies.

Related Templates

Popular templates.

Things I Can Control Worksheet

Enhance emotional regulation and positively impact your life with the Circle of Control Worksheet. Take charge of what you can influence today.

Eye Movement Test

Assess eye movement for health concerns with an Eye Movement Test. Evaluate gaze, tracking, and reflexes for comprehensive healthcare screening.

Guided Notes Template

Enhance your healthcare learning with our Guided Notes Template. Streamline study sessions efficiently. Download now!

Death Anxiety Test

Explore the Death Anxiety Test as a tool to gain an understanding of death anxiety among clients. Access a free PDF resource here.

Skin Analysis Form

Need a skin analysis form? Download Carepatron's free PDF template and get an example to help you conduct comprehensive skin analyses effectively.

Anger Level Chart

Learn about anger management, its importance, and how to help clients address anger issues effectively with our Anger Level Chart.

Family Nursing Care Plan

Discover our Family Nursing Care Plan template, designed to help create comprehensive care plans for families and enhance overall well-being.

Integrity Test

Uncover the essentials of integrity with our Integrity Test Template. Designed for mental health professionals, this tool aids in evaluating ethical behavior.

Client Questionnaire Template

Efficiently gather medical client information with our concise Client Questionnaire Template designed for healthcare professionals. Download now!

List of Mood Disorders

Use our List of Mood Disorders as a handy guide in screening for critical symptoms to help clients going through these challenges.

Healthcare Practitioner Form

Get Carepatron's free PDF download of a healthcare practitioner form and an example to streamline administrative tasks. Perfect for healthcare professionals looking to improve efficiency.

MOST Medical Form

Discover the essential guide to the MOST Medical Form, including a comprehensive overview and a free PDF example. Ideal for healthcare professionals and users.

Home Care Form

Optimize your healthcare with our Home Care Form, ensuring streamlined processes and personalized care. Improve efficiency today!

Dental Medical Clearance Form

Learn how a Dental Medical Clearance Form works. Download a free PDF template and sample for your practice.

Neurological Vital Signs

Understanding neurological vital signs is crucial for assessing a patient's brain function. Get Carepatron's free PDF download with examples to deepen your knowledge.

Blood Test for Depression

Learn about blood tests for depression and download Carepatron's free example in PDF format to understand the process better.

Crippling Anxiety Test

Discover your anxiety levels with our Crippling Anxiety Test. Early detection, insight, and steps towards treatment. Download the free test now.

Preparticipation Physical Evaluation Form

Download a free Preparticipation Physical Evaluation Form and an example. Streamline your practice documentation with Carepatron's customizable template.

Foot Stress Fracture Test

Learn how to perform the Foot Stress Fracture Test. Download a free PDF template to document your findings and notes.

ADA Blood Sugar Log

Learn about the ADA Blood Sugar Log and how it helps manage diabetes. Download a free PDF and sample here.

Behavior Rating Scale

Introduce behavior rating scales to measure clients' relevant behavioral aspects to inform the next steps to take. Download a free PDF here.

Symptom Management Mental Health Worksheet

Use the Symptom Management Mental Health Worksheets to engage clients in their treatment and encourage a proactive approach to managing symptoms.

DSM 5 Criteria for Schizophrenia

Explore the DSM 5 Criteria for Schizophrenia and learn more about the symptoms, diagnosis, and treatment options. Download a free PDF for your reference.

Compassion-Focused Therapy Worksheets

Explore a free compilation of Compassion-Focused Therapy Worksheets useful for working with clients to build self-compassion and acceptance.

Visualization Meditation Script

Elevate mental health with our Visualization Meditation Script. Enhance awareness as you practice meditation for holistic well-being.

DSM 5 Criteria for Narcissistic Personality Disorder

Access a helpful tool to help screen for symptoms and representations of Narcissistic Personality Disorder using our DSM-5 criteria checklist.

Nursing assessment for pneumonia

Learn the importance of nursing assessments in managing pneumonia. Get a free PDF Nursing Assessment for Pneumonia form here.

Temperament Test

Click here to learn more about the four temperaments test and how this test can support clients to uncover their true selves and put their puzzle pieces together.

Vertigo Test

Assess for vertigo with our comprehensive Vertigo Test. Quick, accurate evaluation for symptoms like dizziness and balance issues.

Circulation Assessment

Learn about the circulatory system, its significance, and how to conduct a comprehensive Circulation Assessment using our free template example.

Accommodation Eye Test

Learn about the Accommodation Eye Test, PERRLA, and signs of accommodative insufficiency in our comprehensive eye health guide.

List of Coping Skills for Addiction PDF

Download our List of Coping Skills for Addiction PDF to develop healthy coping skills and foster a positive attitude toward recovery.

DSM 5 Criteria for OCD

Access a free resource to help you document and note possible representations of OCD when working with clients. Download your free PDF here.

DSM 5 Criteria for Anorexia Nervosa

Learn the DSM 5 criteria for Anorexia Nervosa, including diagnostic features and characteristic symptoms. Get a free PDF download for your reference.

Psychosexual Evaluation

Explore our Psychosexual Evaluation: A comprehensive tool for assessing sexual behaviors and risks, aiding legal decisions, treatment plans, and risk assessment.

Vitamin Chart

Discover the importance of vitamins for optimal health with our comprehensive Vitamin Chart. Learn about functions, sources, and dietary recommendations.

Medical Needs Form

Download Carepatron's free PDF example of a Medical Needs Form to help organize and track important medical information for individuals. Keep your medical needs organized with this helpful form.

Conduct Disorder Test

Assessing conduct disorder in individuals is crucial for effective intervention. Download Carepatron's free PDF example of a Conduct Disorder Test and learn how to use it effectively.

Self-care Inventory

Try our Self-care Inventory Template, designed to help healthcare professionals and patients assess and improve self-care habits. Treat yourself to a better you.

DSM 5 Criteria for Binge Eating Disorder

Explore the DSM-5 Criteria for Binge Eating Disorder with our comprehensive template. Understand the diagnosis, impact, and treatment options for BED.

EMDR Client Handout

Access our free EMDR Client Handout to receive guidance on trauma processing. Explore how EMDR therapy addresses distressing memories for healing.

Body Dysmorphia Worksheet

Improve body functionality and image perception with our Body Dysmorphia Worksheet. Break negative patterns and enhance overall well-being.

Women's Daily Nutritional Requirements Chart

Download Carepatron's free PDF chart outlining women's daily nutritional requirements, including examples of a balanced diet to help you meet your dietary needs effectively.

Body Dysmorphic Disorder Worksheets

Discover effective Body Dysmorphic Disorder Worksheets to help mental health professionals address symptoms and support patient recovery. Try them now!

Maximum Heart Rate Chart

Maximize your fitness routine with our Maximum Heart Rate Chart template. Use it to monitor your heart rate and enhance your workout effectiveness safely!

Life Goals Worksheet

Unlock your potential with our Life Goals Worksheet Template, designed for life coaches to help clients set and achieve meaningful goals.

Immunization Form

Streamline school health compliance with our Immunization Form template, designed to track student vaccinations and ensure a safe learning environment.

Work Physical Form

Enhance workplace safety and compliance with our Work Physical Form template, designed for healthcare professionals to assess employee fitness for work.

Executive Functioning Skills Checklist

Discover our Executive Functioning Skills Checklist Template, designed for mental health professionals to assess and support children's cognitive abilities.

7 Stages of Grief PDF

Understand the expanded version of the grief model through the 7 Stages of Grief PDF resource and how we could apply this in client work.

DSM 5 Criteria for Borderline Personality Disorder

Explore the DSM 5 Criteria for Borderline Personality Disorder. Understand BPD diagnosis and its impact on mental health professionals and patients.

WDEP Worksheet

Discover the power of goal-setting and self-reflection with our WDEP Worksheet. Clarify wants, evaluate actions, and plan for success. Download now!

Nurse Practitioner Collaborative Agreement Template

Streamline nurse practice collaboration with our template—clear agreements for seamless teamwork in healthcare. Download now!

Orthorexia Test

Assess your relationship with food and well-being with our Orthorexia Test. Download the template now for a balanced approach to nutrition.

Work-Life Balance Worksheet

Achieve work and personal life harmony with our Work-Life Balance Worksheet. Assess, prioritize, and improve your balance for a happier, healthier you.

OT Evaluation Checklist

Discover the ultimate OT Evaluation Checklist for comprehensive assessments. Streamline your evaluations efficiently.

Home Health Documentation

Download our free Home Health Documentation template to help you with your document needs. Learn the importance of good home health documentation.

Medical Prior Authorization Form

Learn the importance of prior authorization for your patients. Download a free Medical Prior Authorization Form to simply insurance requests.

Daycare Physical Form

Learn the importance of physical exams for daycare. Download a free Daycare Physical Form to document a child's health records.

Urinalysis Normal Values Chart

Explore the Urinalysis Normal Values Chart. Understand key health indicators with our comprehensive guide and example. Get your free PDF download now!

Primary and Secondary Emotions Worksheet

Download our free Primary and Secondary Emotions Worksheet to aid clients in exploring their emotional experiences and fostering emotional resilience.

Psychology Career Test

Take this test to determine your suitability in the role of a psychologist. Use this template as a self test or with clients considering new occupational roles.

Time Lapse Assessment

Download our Time Lapse Assessments for holistic patient care. Learn how tracking changes over time enhances early intervention and personalized treatment plans.

Autism pattern recognition test

Explore the Autism Pattern Recognition Test to understand pattern recognition in autism. Access a free example and download the test for practical use.

EMT Practice Scenarios

Discover EMT practice scenarios that can support your emergency staff to refine their skills and knowledge as well as enhance their practical skills.

Inpatient Billing Cheat Sheet

Unlock efficient inpatient billing with our Cheat Sheet. Streamline CPT coding, enhance accuracy, and ensure timely reimbursements. Download now!

Pregnancy Verification Letter

Get your pregnancy confirmed with our Pregnancy Verification Letter. Official proof of pregnancy with physician validation simplified!

Normative Test

Discover the essence of normative testing in a concise guide exploring its principles, significance, and applications.

Occupational Therapy Initial Assessment Template

Optimize patient care with our Occupational Therapy Initial Assessment Template. Streamline assessments, set goals, and track progress efficiently!

Hearing Test Frequency

Prioritize your hearing health today! Download our free Hearing Test Frequency example for personalized recommendations on monitoring your auditory well-being.

Oral Mechanism Examination

Unlock precise diagnosis & personalized treatment with our Oral Mechanism Examination—a comprehensive assessment for speech & swallowing concerns. Download now!

Schizophrenia Test

Efficiently diagnose schizophrenia symptoms with our test & examples. Free PDF download available for practical practitioners.

Pancreas Blood Test

Learn more about the Pancreas Blood Test and obtain a template you can use to request and record the results of this assessment.

Neuro Eye Exam

A neuro eye exam is a comprehensive assessment of the visual system to diagnose and manage neurological conditions. Download Carepatron's neuro eye exam PDF to learn more about it.

List of Behavior Intervention Strategies PDF

Explore a comprehensive guide to help you encourage positive change with our List of Behavior Intervention Strategies. Access our free resource here!

Impulse Control Disorder Test

Explore the benefits and functionality of the Impulse Control Disorder Test with our free downloadable template. Get insights for better impulse management.

Discover how to diagnose and manage Small Intestinal Bacterial Overgrowth with our comprehensive SIBO Test Template, designed for healthcare professionals.

Life Coach Plan

Unlock your potential with Life Coach Plan: personalized healthcare guidance for holistic wellness and fulfillment.

Gastrointestinal Soft Diet Food List

Check out our Gastrointestinal Soft Diet Food List: tailor meals for digestive health, ease symptoms, and promote recovery with our comprehensive guide.

Diagnosis Template

Unlock streamlined diagnosis with our template. Ideal for healthcare pros seeking accurate patient assessments. Download now for comprehensive care.

Medicare Private Contract

Explore Medicare Private Contracts: key agreements for medical practitioners opting out of Medicare, ensuring clarity & compliance.

Chiropractic Business Plan

Our Chiropractic Business Plan guide is designed to help you navigate the competitive landscape, optimize operations, and maximize profitability in your chiropractic practice.

Urgent Care Form

Streamline patient check-in and expedite care with our Urgent Care Form template, designed to efficiently gather vital patient information.

Discover the key aspects of an ENT Exam with our comprehensive template, designed for health professionals to assess ear, nose, and throat health effectively.

Wax Consent Form

Try out our Wax Consent Form template, designed for healthcare professionals and aestheticians and ensuring informed consent and legal protection.

Home Safety Assessment

Ensure a safer home environment with our comprehensive Home Safety Assessment. Identify potential hazards and take proactive steps for peace of mind.

Asking for Help Worksheet

Overcome asking for help anxiety! This Asking for Help Worksheet guides you through self-reflection, providing a framework for clear communication.

Dysphagia Care Plan

Optimize patient outcomes with our free Dysphagia Care Plan template. Streamline care delivery for individuals with swallowing difficulties.

Community Health Improvement Plan

Discover how Community Health Improvement Plans (CHIPs) address community health needs strategically for effective outcomes and better population health.

Get a quick depression screening with PHQ-2. Compare it with PHQ-9, track symptoms, and streamline care. Administer regularly in primary care.

Assess dysphagia with EAT-10: 10-question tool, which predicts aspiration and risk factors and evaluates swallowing disorders. Streamline care and improve outcomes.

Pediatric Assessment

Learn the essentials of pediatric assessment with Carepatron's free PDF download. Get examples and practical guidance for assessing pediatric patients to enhance your skills and knowledge.

Suicide Prevention Worksheets

Understanding suicide, prevention methods, and the significance of Suicide Prevention Worksheets. Learn how to utilize these resources effectively, and access a free template today!

Patient Discharge Form

Access a free Patient Discharge Form for easy clinical documentation. Download the PDF template and example now!

Nutrition SOAP Note

Get our free Nutrition SOAP Notes template now! Optimize your nutrition practice with structured documentation. Download here!

Randot Test

Discover the Randot Test and understand how it evaluates stereopsis, suitable age groups, conditions diagnosed, accuracy, and alternatives.

9-Panel Drug Test

Discover the comprehensive 9-panel drug test that screens 9 substances, including marijuana & cocaine. Learn more!

Caregiver Note Template

Access our comprehensive Caregiver Note Template for organized healthcare documentation. Simplify caregiving with our efficient solution.

YBOCS Symptom Checklist

Assess the severity of your patient's OCD symptoms with a YBOCS symptom checklist. Click here for a free template and more information.

South Oaks Gambling Screen

Explore the South Oaks Gambling Screen (SOGS) for identifying gambling disorders. Designed for diagnosing and managing gambling-related issues.

Height Weight Charts

Learn about height-weight charts and their use in healthcare practice. Find out your ideal weight and stay healthy!

Glasgow Coma Scale

The Glasgow Coma Scale (GCS) dates back to the 1970s and has become one of the most widely accepted measurements of impairment following brain injury. What better way to start using the GCS in your practice than with Carepatron’s free PDF GCS template download.

A1C Goals By Age Chart

Use our free A1C Goals by Age Chart to learn the recommended A1C goal for people of different ages. Download our free PDF and example here.

Weight Height Chart For Women

Uncover insights on the ideal BMI for women with our comprehensive height-weight chart, offering accurate benchmarks for healthy living and fitness.

Rhomboid Manual Muscle Test

Learn how to detect Rhomboid muscle weakness by conducting the Rhomboid Manual Muscle Test!

NANDA Nursing Care Plan

Enhance patient care with our NANDA Nursing Care Plan Template. Streamline assessments, interventions, and evaluations for efficient healthcare delivery.

Fever Temperature Chart

Track your health with precision using our Fever Temperature Chart. Monitor temperature symptoms and get medical help for optimal care.

Manual Muscle Testing

Improve patient assessment skills with our Manual Muscle Testing template. Download for free and easily record and interpret muscle strength results.

Pain Level Chart

Discover the utility of Pain Level Charts for effective pain assessment and communication. Download our free PDF template and learn how to use it effectively.

Admission Nursing Note

Discover what is included in an Admission Nursing Note and download a free PDF example to get started.

ALT Blood Test

Discover the ALT Blood Test, including what it is, how it works, when to use it, and interpret results. Free ALT Blood Test example available for download.

Palliative Performance Scale

Learn about the Palliative Performance Scale and its application in hospice care. Download a free PDF template and follow our guide to using the PPS effectively.

Join 10,000+ teams using Carepatron to be more productive

• Cases in Medical Ethics: Student-Led Discussions
• Markkula Center for Applied Ethics
• Focus Areas
• Bioethics Resources

Cases in Medical Ethics

Student-led discussions.

A selection of medical ethics cases designed to help determine whether medicine is the correct calling for pre-medical students.

I was a Hackworth Fellow for the Markkula Center for Applied Ethics at Santa Clara University. I was also a pre-medical student, and am currently attending the Loyola University Chicago Stritch School of Medicine. During my senior year at Santa Clara, I led discussions on medical ethics with students interested in medicine. The purpose of these discussions was two-fold. First, they were created to help bring current ethical issues onto our campus. Second, they were intended to help students who were interested in a career in the health sciences determine whether or not medicine is their correct calling. Most of the discussions followed a simple format. One to two cases were formulated for the students to read. Then I presented the students with various questions related to some of the ethical issues contained in the situations described. The following cases are the ones that I presented to the groups. Each case also has a short history and summary of the ethical issues being reviewed. The questions I asked of the students are included as well. These cases and questions are public domain, and can be re-used or modified for educational purposes. I hope that you find them useful, and that they spawn the same thoughtful enjoyment in you as they did in me.

Note: The cases were not based on specific events. However, it is possible that they share similarities with actual events. These similarities were not intended.

Autonomy essentially means "self rule," and it is a patient's most basic right. As such, it is a health care worker's responsibility to respect the autonomy of her patients. However, at times this can be difficult because it can conflict with the paternalistic attitude of many health care professionals. The following two cases address patient autonomy. The first involves the rights of an individual to decide her own fate, even against her physicians' judgments. The second case involves the rights of a parent to care for her child in the manner that she sees fit.

A woman enters the emergency room with stomach pain. She undergoes a CT scan and is diagnosed with an abdominal aortic aneurysm, a weakening in the wall of the aorta which causes it to stretch and bulge (this is very similar to what led to John Ritter's death). The physicians inform her that the only way to fix the problem is surgically, and that the chances of survival are about 50/50. They also inform her that time is of the essence, and that should the aneurysm burst, she would be dead in a few short minutes. The woman is an erotic dancer; she worries that the surgery will leave a scar that will negatively affect her work; therefore, she refuses any surgical treatment. Even after much pressuring from the physicians, she adamantly refuses surgery. Feeling that the woman is not in her correct state of mind and knowing that time is of the essence, the surgeons decide to perform the procedure without consent. They anesthetize her and surgically repair the aneurysm. She survives, and sues the hospital for millions of dollars. Questions for Case 1:

Do you believe that the physician's actions can be justified in any way?

Is there anything else that they could have done?

Is it ever right to take away someone's autonomy? (Would a court order make the physicians' decisions ethical?)

What would you do if you were one of the health care workers?

You are a general practitioner and a mother comes into your office with her child who is complaining of flu-like symptoms. Upon entering the room, you ask the boy to remove his shirt and you notice a pattern of very distinct bruises on the boy's torso. You ask the mother where the bruises came from, and she tells you that they are from a procedure she performed on him known as "cao gio," which is also known as "coining." The procedure involves rubbing warm oils or gels on a person's skin with a coin or other flat metal object. The mother explains that cao gio is used to raise out bad blood, and improve circulation and healing. When you touch the boy's back with your stethoscope, he winces in pain from the bruises. You debate whether or not you should call Child Protective Services and report the mother.

Questions for Case 2:

Should we completely discount this treatment as useless, or could there be something gained from it?

When should a physician step in to stop a cultural practice? (If someone answers "when it harms the child" remind that person that there is some pain in many of our medical procedures, for example, having one's tonsils removed)

Should the physician be concerned about alienating the mother and other people of her ethnicity from modern medicine?

Do you think that the physician should report the mother?

Autonomy Part 2 Maintenance of patient autonomy is one of the major ethical focuses of physicians. Therefore, a second discussion was also held that focused primarily on patient autonomy. This discussion also took a superficial look at euthanasia. For this discussion, a 58 minute video, Dax's Case (produced by Unicorn Media, for Concern for Dying ; produced by Donald Pasquella, Keith Burton ; directed by Donald Pasquella New York : Filmakers Library, c1984) was used. The video tells the story of Dax Cowart, a man who was severely burned by an accidental propane explosion. The burns disabled Dax, and the physicians forced treatment on him. Though he survived the treatment, he still argues that he should have been allowed to refuse it so that he could die. The video is very useful; however, the videos of Dax's burn treatments are very graphic and the video should be reviewed before it is shown to a group of students.

In the video, one of the physicians says that burn patients are incompetent to make decisions when they first enter the hospital because they are in such a great deal of pain. However, patients such as Dax can be in a great deal of pain for a very long time. In such cases, what should be done to determine competence, and when should this be done?

Do you think the fact that Dax could not see a future for himself should have been taken into account when determining his competency? Could this have clouded his judgment? (He thought that he would end up on the street corner selling pencils)

Do you think that the fact that Dax was going to recover, and had the possibility of living a happy life, made not treating Dax like suicide… or murder? What if he did not have this possibility?

After his recovery, Dax attempted suicide. Should the physicians have let him die? Is it ever correct for a doctor to allow a patient to kill himself?

Do you ever think that it is correct for a physician to break a competent patient's autonomy? If so, is this one of those cases?

Do you think that in this case, that the ends justified the means?

The word "euthanasia" draws its roots from Greek meaning "good death." As it is used in this discussion, it means "the act of ending the life of a person suffering from either a terminal illness, or an incurable disease." The AMA is against physicians assisting in euthanasia. There is currently only one state in the US that allows for euthanasia, and that is Oregon, where in 1997, the "Death With Dignity Act" went into effect. Euthanasia advocates stress that it should be allowed as an extension of a person's autonomy. Those who are against euthanasia often say that it can lead to the devaluation of human life, and to a slippery slope in which the old and disabled will be killed on the whims of healthy people. We examined one case and the Oregon law to view the ethics of euthanasia.

Case One: A woman was diagnosed with motor neurone disease (the same disease that Stephen Hawking has) 5 years ago. This is a condition that destroys motor nerves, making control of movement impossible, while the mind is virtually unaffected. People with motor neurone disease normally die within 4 years of diagnosis from suffocation due to the inability of the inspiratory muscles to contract. The woman's condition has steadily declined. She is not expected to live through the month, and is worried about the pain that she will face in her final hours. She asks her doctor to give her diamorphine for pain if she begins to suffocate or choke. This will lessen her pain, but it will also hasten her death. About a week later, she falls very ill, and is having trouble breathing.

Questions for Case 1:

Does she have a right to make this choice, especially in view of the fact that she will be dead in a short while (say six hours)? Is this choice an extension of her autonomy?

Is the short amount of time she has to live ethically relevant? Is there an ethical difference between her dying in 6 hours and dying in a week? What about a year, and how do you draw this distinction?

Is the right for a patient's self-determination powerful enough to create obligations on the part of others to aid her so that she can exercise her rights? She clearly cannot kill herself. She can't move, but should someone be FORCED to help her, or to find someone to help her?

Should the money used to care for this woman be taken into account when she is being helped? Do you think that legalizing euthanasia could create conflicts of interest for the patient/ or the doctor? Will people feel that they need to end their lives earlier to save money?

Ask each student: If you were the physician, what would you do? Note: if you would pass her off to another doctor knowing he or she would do it, does this free you from you ethical obligations?

Oregon's Death With Dignity Act: We discussed the following questions pertaining to the Death With Diginity Act.

Death With Dignity Questions:

Look at the requirements for the request. Do you see any problems with them? (The woman from case 1 would not qualify.)

Why would they put in these guidelines? Should they be there, if they keep a competent person like the woman above from living her autonomy? (Is it to protect the doctors so they will not have to GIVE the medication?)

Is there a moral difference between prescribing the drug and actually giving it to the patient? If not, why put in the rules?

Why do you think they wouldn't let a person who is terminally ill and in pain with possibly more than 6 months receive assistance in dying? Say someone is diagnosed with HIV?

Does the justification of euthanasia necessarily justify the assisted suicide of a healthy person?

Do you think a weakness of this law is the probability of patients being influenced by family members? (For example, for financial or other reasons?) Note: Approximately 60% of Oregonians in 2000 said (before they died) that they used the prescription at least in some part due to fear of being a burden on their family.

The AMA says that euthanasia is fundamentally incompatible with the physician's role as healer. What do you think about this statement? Why should a physician have to be the one who does this?

Assisted Reproduction:

This is a difficult subject because it involves reproductive issues. In our culture, reproductive liberty, the freedom to decide when and where to conceive a child is highly protected, and this can make these cases much more difficult.

Case 1: There are two types of surrogacy. One type involves a surrogate mother who uses her own egg and carries the baby for someone else. The other type is a "gestational surrogacy" in which the mother has no genetic tie to the child she carries. In the case presented, a gestational surrogate is used.

A woman, after a bout with uterine cancer had a hysterectomy (surgical removal of the uterus). Before, its removal, however, she had several eggs removed for possible fertilization in the future. Now married, the woman wishes to have a child with her husband. Obviously she cannot bear the child herself, so the couple utilizes a company to find a surrogate mother for them. The husband's sperm is used to fertilize one of the wife's eggs, and is implanted in the surrogate mother. The couple pays all of the woman's pregnancy-related expenses and an extra $18,000 as compensation for her surrogacy. After all expenses are taken into account the couple pays the woman approximately $31,000 and the agency approximately $5,000. Though the surrogate passed stringent mental testing to ensure she was competent to carry another couple's child, after carrying the pregnancy to term, the surrogate says that she has become too attached to "her" child to give it up to the couple. A legal battle ensues.

In the United States it is illegal to pay a person for non-replenishable organs. The fear is that money will influence the poor to harm their bodies for the benefit of the rich. Do you see a parallel between this case and this law? Can allowing surrogate mothers to be paid for their troubles allow poorer women to be oppressed?

Does paying the surrogate harm her and/or the child's dignity?

Is it selfish/conceited for this couple to want children of their own genetic make-up? If yes, does this change if you can "easily" have a child? (Note: Over 100,000 children in the U.S. are waiting to be adopted. However, most are older, have several siblings, or have special needs.)

On their website, the AMA says "that surrogacy contracts [when the surrogate uses her own egg], while permissible, should grant the birth mother the right to void the contract within a reasonable period of time after the birth of the child. If the contract is voided, custody of the child should be determined according to the child's best interests." Do you see any problems with this? (What's a reasonable time? In a way can you steal the surrogate's child?)

One of the main arguments against the use of surrogate mothers is that carrying and giving birth to a child is such an emotional event that it is impossible to determine if the surrogate will be able to give up the child. Though adults enter into the contract, the child could ultimately suffer if a long custody battle ensues (as it could in states where surrogacy contracts hold no legal value, such as Virginia). With the possibility of such battles, do you think it is acceptable for parents to use a surrogate mother?

Do you think that if the surrogate is awarded the baby, this could cause emotional harm to the child?

Who do you think should receive the child, and why?

A married couple wishes to have a child; however, the 32 year old mother knows that she is a carrier for Huntington's disease (HD). HD is a genetic disorder that begins showing signs at anywhere from 35-45 years of age. Its symptoms begin with slow loss of muscle control and end in loss of speech, large muscle spasms, disorientation and emotional outbursts. After 15-20 years of symptoms HD ends in death. HD is a dominant disorder which means that her child will have a 50% chance of contracting the disorder. Feeling that risking their baby's health would be irresponsible, the couple decides to use in vitro fertilization to fertilize several of the wife's eggs. Several eggs are harvested, and using special technology, only eggs that do not have the defective gene are kept to be fertilized. The physician then fertilizes a single egg, and transfers the embryo to the mother. Approximately 9 months later, the couple gives birth to a boy who does not carry the gene for the disorder.

Is this a case of eugenics? "Eugenics" is defined as "the hereditary improvement of the human race controlled by selective breeding" (dictionary.com)

Would it be acceptable for the parents to select for sex as well, or should they only select an embryo that does not have HD? How would this be different?

Is it ethical for this couple to have a baby when the mother could begin showings signs of HD when the baby is just a few years old?

With this technology possible, would it be ethical for this couple to have a child without genetically ensuring it would not have the disease? What if we did not have this technology, would it be ethical for a known carrier to have a child? (If not, how far should this carry? a carrier for cystic fibrosis ( which is recessive)? )

Weighing everything we have discussed, do you believe the couple acted ethically?

Response To Bio-Terrorism

The possibility of terrorists using biological weapons on the citizens of the United States has been a major topic in the press for the last several years. Smallpox has been speculated to be the perfect biological terror agent because of the potency of the virus, and because of the lack of herd immunity present in the US population. The following case presents a possible way in which the virus could be released in the population and a possible response. The questions following the case involve the ethics surrounding the government's response.

Smallpox Facts:

Smallpox initially has flu-like symptoms, which are recognizable 7-19 days after exposure. After 2-4 days of flu-like symptoms, the fever begins to decrease, and pox will form.

An infected person is contagious one day before the characteristic pox appear.

Approximately 30-50% of unvaccinated people exposed to smallpox will contract the disease.

The mortality rate for smallpox was approximately 20-40%.

The vaccine that was used was approximately 90% effective.

It is possible that if terrorists were to use the smallpox virus, that they would genetically modify it. If this were the case, then the vaccine may not prevent all of the disease symptoms for those vaccinated.

Facts gathered from: http://www.vbs.admin.ch/ls/e/current/fact_sheet/pocken/

Date: June 22, 2005. A 27-year-old man is brought into a New York City emergency room with a 101-degree fever, and what he believes is chickenpox (Varicella). After a brief examination, the 35-year-old physician is puzzled because the pox do not appear to be typical of the varicella-zoster virus. Worried, he calls in another physician for her opinion. She takes one look at the patient, determines he has small pox, and immediately orders him to be quarantined. She notifies the Centers for Disease Control and Prevention (CDC) and asks them what should be done. While doing background on the patient, he tells the physicians that he is a flight attendant and that he has flown to Orlando, FL, Los Angeles, CA, Chicago, IL, and Seattle, WA in the past few weeks while working. Though he is given excellent treatment, and had been in perfect health a few days earlier, the patient dies 7 hours after admittance to the hospital.

The CDC decides that mandatory small pox vaccines will be administered to all workers in the NYC hospital, and to all patients who were in the ER. His co-workers are all given mandatory vaccines as well, as are all people living in his apartment complex. They also ship stored quantities of the vaccine to all of the cities where the man had flown to for work. The vaccines are offered to citizens of these cities. Finally, all people, along with their families who had been on the man's flights in the weeks preceding the appearance of the disease are forced to receive the vaccine.

Questions: Note: The flight attendant was most likely given small pox by a bio terrorist who flew on his plane sometime during the past week/week and a half. The terrorist would have been contagious but would not have shown symptoms. Virtually every person the man came into contact with would have gotten the virus.

Is it ethical for the CDC to force people to get the vaccine?

An LA woman on the flight is religiously opposed to vaccines. Under California law she can normally refuse vaccines on religious or personal grounds. However, the government says she must receive the vaccine or face mandatory quarantine. What do you think of this?

Do you think that for more common diseases, for example measles, that it is ethical for the state to allow people to refuse vaccines (even for religious grounds)? What if their refusal can harm others who cannot have the vaccine, such as people who are immunocompromised like AIDS patients?

Is it ethical for someone to refuse the vaccine?

You had driven down to Los Angeles 5 days ago to visit a friend for the weekend. While in town, you visited many tourist attractions. You are worried and you try to get the vaccine, but are denied it because of limited resources. What do you think of this?

Citizens begin calling for the mandatory quarantining of people directly exposed to the victim, i.e those living in his apartment complex, those working in the ER, those who flew on the plane in the prior week. What do you think of this?

The smallpox vaccine, like many other vaccines (example: oral polio vaccine) can actually transmit the virus to others. In light of this, is it ethical for people to get the vaccine? (Note: they are vaccinating those who may not want to be vaccinated)

Today, should health care workers be allowed/forced to get the smallpox vaccine? What about non-health care worker citizens?

9 Real Use Cases of How AR Apps are Improving the Patient Medical Experience

Augmented reality (AR) is not limited to the gaming arena. The technology is creating gigantic waves in healthcare. Yes, you heard, right! AR in Healthcare has created a future of limitless possibilities.

The world of AR with goofy-looking headgear and sci-fi detours is ready to transform patient medical experiences. The next generation will make more distinguished advances, and we can expect more meaningful AR journeys.

As a healthcare organization, you’d want to know everything about the thriving technology. We got you.

In this blog, we will be looking at some of the most significant AR use cases in healthcare. Let’s dive in!

Advancements in Augmented Reality—Critical Insights

Before we look at some of the promising insights of augmented reality in the medical field, here are some crucial facts:

• According to Gartner, 5G mobile network technology represents an opportunity to accelerate the adoption of AR. ( Sources )
• Gartner conducted a 5G enterprise survey. The study highlights that AR/VR applications of 5G attract the highest expectations and are drivers of new revenue across all use cases and respondents. ( Source )
• According to Forrester, by 2021, AR will be commonplace, while VR remains niche. ( Source )
• According to Zion Market Research, the Global Healthcare AR/VR market will reach USD 5,115 Million By 2025. The estimate will be at a CAGR of around 29.2% between 2019 and 2025. ( Source )
• Another critical insight where experts highlight the AR market would grow into an 18 billion USD valuation by 2023. ( Source )

Here’s a quick sneak peek on the AR/VR market size.

It is quite evident that augmented journeys are essential. The critical question is—what does it mean for your healthcare organization? How will you benefit from the augmented reality journey?

Let’s find out.

Opportunities for Augmented Reality in Healthcare

The new applications for AR in the healthcare sector can enhance patient care. How?

First, AR can help doctors diagnose and treat patients accurately. With access to real-time patient data, they can perform functions better than before.

Also Read: Developing a Healthcare App in 2024: What Do Patients Really Want?

The novel ways of AR in the healthcare industry are groundbreaking. Let’s check out some of the new opportunities.

1. Augmented Surgery

Imagine the power of AR—surgeons visualizing bones and internal organs of patients without having to cut open a body. Now, that’s great, isn’t it?

Surgeons can get access to real-time, life-saving patient information. They can now use this data during complicated or straightforward procedures.

Surgeons can use AR to study their patients’ anatomy. They can enter their MRI data, and CT scans into an AR headset. Then, overlay specific patient anatomy on top of their body before going into surgery.

The process will help surgeons to visualize muscles, bones, and internal organs. You’re right without cutting open a body! With AR, surgeons can perform accurate and low-risk surgeries, saving time.

Scenario: Surgeons and doctors at hospitals like Imperial College and St. Mary’s Hospital in London have begun using Microsoft’s HoloLens AR glasses during reconstructive surgery on patients who have suffered severe injuries.

Startups in Augmented Surgery

Let’s look at some of the promising startups in the augmented surgery arena.

Table 1. Startups in Augmented Surgery

2. Augmented Diagnosis

You must have observed that some patients find it challenging to describe their symptoms to doctors accurately. Now, with AR, patients will be able to express their symptoms better. The process will make it easier for doctors to determine their patients’ symptoms and accurately diagnose them.

Scenario: Imagine a patient coming to a doctor for a necessary shot. The nurse can now use AR to find veins easily. How? Using AccuVein , an AR startup that uses a handheld scanner, nurses can determine where the veins are.

Startups in Augmented Diagnostics

Let’s look at some of the promising startups in the augmented diagnostics arena.

Table 2. Startups in Augmented Diagnostics

3. Augmented Practice

What happens when medical students make mistakes in a real-life procedure? You’re right! It would be disastrous. However, learning in the dissection lab and real-life methods is essential. Now, that’s where AR can be revolutionary to the field of medicine and education.

Medical institutions are beginning to implement AR into their curriculum to provide students with valuable hands-on learning experiences. With AR in education, it would be easy to simulate patients and surgical encounters for students. AR technologies can allow medical students to visualize and practice theories during their training.

Scenario: Using AR apps, students can check out the overlay anatomy data on a 3D human skeleton. The visualization would help them to understand better how the human body works.

Startups in Augmented Practice

Let’s look at some of the promising startups in the augmented practice arena.

Table 3. Startups in Augmented Practice

As you can see, there’s an enormous opportunity for the healthcare industry with innovative new AR products and applications.

As forward-thinking healthcare providers, you need to investigate the use cases that are most suitable to your businesses.

Practical Use Cases of AR in Healthcare

AR applications in healthcare aren’t limited to AR glasses. Today, Physicians are using AR very effectively during interventional procedures. Examples include Computerized Tomography (CT) and Magnetic Resonance Imaging (MRI) visualization paths.

You would also find AR used increasingly in medical education. So, the possibilities are limitless, fun, and exciting.

Let’s explore some significant real-life use cases of how AR apps are improving the patient medical experience.

1. Augmented Reality Showing Defibrillators Nearby and Saving Lives

Picture this—you have a relative next to you, who collapses suddenly. What would you do? Yes, after controlling the rush of emotions, you’d wish to reach out to someone. You may think of calling a doctor, an ambulance, or your friends for help.

Here’s an interesting option. You can consider downloading the Layar reality browser combined with AED4EU app to your phone next to the basic emergency numbers. If you get into a similar situation, then you would be able to help more.

Lucien Engelen , who worked at the Radboud University Nijmegen Medical Centre, created the AED4EU, which can add places where automated external defibrillators or AEDs are located. The great part—physicians can access the database through the new application.

You can also project the exact location of the nearest AEDs on the screen of your phone with the Layar browser. Next, it would take less than a few minutes to find them and also help the ones in need.

2. Virtual Collaboration Between Physicians With AR

What if the primary surgeon is miles away? AR can come to your rescue. If the primary surgeon is away, and a specialist on hand has possession of AR tools, then the professional can follow instructions and help.

Doctors can use AR with collaborative surgeries, and even have effective meetings on any medical issue with AR video conferencing. It could be a life-saving moment with specialists located far away from the clinic helping out.

3. Google Glass Can Help Guide New Mothers with Breastfeeding

Google Glass can help mothers struggling with breastfeeding get some expert help.

Melbourne-based innovation company, Small World, conducted a Google Glass trial with the Australian Breastfeeding Association. In the trial, telephone counselors could see through the eyes of mothers while they breastfed at home.

The insights could help struggling mothers get expert help throughout the day. The best part—the mothers didn’t have to put down their babies from their arms.

4. Augmented Reality in Surgery

Surgeries used to have a high mortality rate. Now, with AR, procedures can be much safer than before. AR can assist doctors and specialists, providing them all the necessary information when trying to save patients’ lives.

As physicians operate, they can be more aware of organ location, meshes of the vein, and diagnosis reports, appearing right in front of their eyes.

Here’s how Brazilian surgeons implemented AR virtual interfaces that assisted them in spinal surgery. Source: https://www.youtube.com/watch?v=gxm_Ka0j99M&feature=emb_logo

The technology can undoubtedly help to minimize risks. Moreover, it will help to reduce detailed surgical processes dramatically.

5. Augmented Reality can Help Patients to Describe Their Symptoms Better

An accurate diagnosis needs symptoms detailed out accurately. You may have observed that patients quite often struggle with describing their symptoms. Such situations could lead to an erroneous diagnosis.

Let’s look at AR in Ophthalmology; the technology could help with patient education. EyeDecide , a medical app, uses the camera display for simulating the impact of specific conditions on a person’s vision. Apps like EyeDecide, doctors, can now show a simulation of the vision of a patient suffering from a specific condition.

So, patients can understand their symptoms and their actual medical state for scenarios, such as Cataract or AMD. When patients comprehend the long-term effects of their lifestyle on their health, there is a greater possibility of them making positive changes.

6. AR Can Help Nurses Find Veins Easily

AccuVein, a start-up firm, is using AR, which is helping both nurses and patients’. How? Most IVs (intravenous injections) typically miss the vein on the first stick. The situation worsens for children and the elderly.

Now, AccuVein uses augmented reality by using a handheld scanner that projects over the skin and shows nurses and physicians where veins are in the patients’ bodies. According to Vinny Luciano , AccuVein’s marketing specialist, technology has been used on more than 10 million patients. The AR app helps with finding a vein on the first stick 3.5x more likely.

7. Pharma Companies Can Offer Innovative Drug Information

Imagine studying some boring and indecipherable drug descriptions. It doesn’t sound exciting, isn’t it? Although it would have been fun to know how a drug works in your body. How can you explore the world of pills and also have fun? Augmented Reality is your answer.

Patients can now see how the drug works in 3D. How? With the help of AR, patients can explore how drugs work. Lab workers could also monitor their experiments with AR equipment.

8. Hololens Can Help With the Study of Anatomy

Wouldn’t it be nice to visualize the human body in an easy and explorative way? Now, that’s a reality! Case Western Reserve University and the Cleveland Clinic have partnered with Microsoft and released a HoloLens app. The app is called HoloAnatomy, and it helps to visualize the human body in a simple-and-spectacular way.

The HoloLens Headset from Microsoft can help app users to see everything from muscles to the smallest veins on a dynamic holographic model. Such apps can revolutionize medical education shortly, as students would be able to visualize the human body in 3D.

9. Helping Kids Learn About the Human Body

The UK-based company, Curiscope, developed the Virtuali-tee T-shirt. The company is popular for creating immersive learning experiences. So, what’s about a T-shirt? Why would kids love it?

Here’s the thing—you can see the inner parts of the human body through realistic holograms. Virtuali-tee brings anatomy to life, making it fun and exciting for kids to explore the human body.

As you can see, you already have plenty of examples of AR in healthcare. Augmented reality will continue to generate value for healthcare organizations and improve patient care. It’s up to you to discover new business processes and explore how AR can help you improve your systems.

If you are overwhelmed, then you can always reach out to an expert developer, such as Imaginovation, who can help you with crafting a meaningful AR journey for your organization.

Time to Plan Your Augmented Reality Journey

As a forward-thinking entrepreneur, you will need to take some critical steps to set up or integrate AR in your systems-and-processes.

You can brainstorm with your team to ensure a smooth transition by thinking about how and where to integrate your existing technologies with AR. You can also streamline the apps that you want to use and train and re-skill your employees properly.

A word of caution—with the use of AR, you will also need to plan steps to ensure the security of patient data. With wearables, there could be data privacy issues, and you would need to have a detailed plan on security.

Finally, get ready to explore the exciting world of augmented reality. Choose apps that can help you improve the patient medical experience and enjoy streamlining your healthcare processes.

Craft a Meaningful Augmented Reality Journey with Imaginovation

If you want to craft a meaningful AR journey that can help to improve the patient medical experiences, then get in touch with us.

We are an award-winning web and mobile app development company with a vast experience of crafting remarkable digital success stories for diverse companies. Let’s talk .

Table Of Content

Estimate your project cost.

User our project cost calculator tool to get a ballpark estimate on your project.

Frequently Asked Questions

Related articles.

Enterprise IoT: Benefits, Common Use Cases and Challenges

Easier data collection. Higher productivity. Increased efficiency in asset utilization. These are just a few of the benefits that businesses…

Getting Started with Apple Vision Pro Development: A Complete Guide

Released just last month, the Apple Vision Pro was designed with different use cases in mind. The headset, which Apple calls a “spatial…

What is Spatial Computing and How It Is Redefining Interactivity

Spatial computing is not just a futuristic concept anymore. It’s a cutting-edge technology that is quickly transforming how businesses…

Log in using your username and password

• Search More Search for this keyword Advanced search
• Latest content
• For authors
• Browse by collection
• BMJ Journals More You are viewing from: Google Indexer

You are here

• Volume 14, Issue 3
• What impact has the Centre of Research Excellence in Digestive Health made in the field of gastrointestinal health in Australia and internationally? Study protocol for impact evaluation using the FAIT framework
• Article Text
• Article info
• Citation Tools
• Rapid Responses
• Article metrics

• http://orcid.org/0000-0002-8647-5933 Natasha Koloski 1 , 2 , 3 ,
• Kerith Duncanson 1 , 4 ,
• http://orcid.org/0000-0003-1374-5565 Shanthi Ann Ramanathan 1 , 4 ,
• Melanie Rao 4 ,
• Gerald Holtmann 3 , 5 ,
• Nicholas J Talley 1 , 4
• 1 School of Medicine and Public Health , University of Newcastle , Callaghan , New South Wales , Australia
• 2 School of Health & Behavioural Sciences , University of Queensland , St Lucia , Queensland , Australia
• 3 Department of Gastroenterology & Hepatology , Princess Alexandra Hospital , Woolloongabba , Queensland , Australia
• 4 Hunter Medical Research Institute , Newcastle , New South Wales , Australia
• 5 School of Medicine , University of Queensland , St Lucia , Queensland , Australia
• Correspondence to Nicholas J Talley; nicholas.talley{at}newcastle.edu.au

Introduction The need for public research funding to be more accountable and demonstrate impact beyond typical academic outputs is increasing. This is particularly challenging and the science behind this form of research is in its infancy when applied to collaborative research funding such as that provided by the Australian National Health and Medical Research Council to the Centre for Research Excellence in Digestive Health (CRE-DH).

Methods and analysis In this paper, we describe the protocol for applying the Framework to Assess the Impact from Translational health research to the CRE-DH. The study design involves a five-stage sequential mixed-method approach. In phase I, we developed an impact programme logic model to map the pathway to impact and establish key domains of benefit such as knowledge advancement, capacity building, clinical implementation, policy and legislation, community and economic impacts. In phase 2, we have identified and selected appropriate, measurable and timely impact indicators for each of these domains and established a data plan to capture the necessary data. Phase 3 will develop a model for cost–consequence analysis and identification of relevant data for microcosting and valuation of consequences. In phase 4, we will determine selected case studies to include in the narrative whereas phase 5 involves collation, data analysis and completion of the reporting of impact.

We expect this impact evaluation to comprehensively describe the contribution of the CRE-DH for intentional activity over the CRE-DH lifespan and beyond to improve outcomes for people suffering with chronic and debilitating digestive disorders.

Ethics and dissemination This impact evaluation study has been registered with the Hunter New England Human Research Ethics Committee as project 2024/PID00336 and ethics application 2024/ETH00290. Results of this study will be disseminated via medical conferences, peer-reviewed publications, policy submissions, direct communication with relevant stakeholders, media and social media channels such as X (formely Twitter).

• Protocols & guidelines
• Irritable Bowel Syndrome
• Inflammatory bowel disease

This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See:  http://creativecommons.org/licenses/by-nc/4.0/ .

https://doi.org/10.1136/bmjopen-2023-076839

Statistics from Altmetric.com

Request permissions.

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

STRENGTHS AND LIMITATIONS OF THIS STUDY

This protocol provides a prospective view of the application of the Framework to Assess the Impact of Translational health research to the Centre for Research Excellence in Digestive Health (CRE-DH with the explicit aim of optimising research impact and providing direction for future digestive health planning and prioritisation.

This protocol describes three validated methods of impact assessment including the Payback Framework that describes impact using quantified metrics in different domains, economic analyses to quantify the return on research investment and narratives to describe the pathway to impact and provide qualitative evidence of impact.

There is always a lag in the health research translation process resulting in delays in reporting the full extent of research impact. This lag will limit the reporting of the longer-term benefits of the CRE-DH, for which evidence will not be available.

Introduction

Chronic gastrointestinal (GI) diseases are a major health burden in Australia and worldwide. 1 2 More than one-third of Australians experience chronic or relapsing unexplained GI symptoms. 3 4 In half of these cases, symptoms are serious enough to require a medical consultation usually at a general practitioner clinic or an emergency department. These cases also currently make up half of all referrals to GI specialists. 5 For the majority of cases, however, no structural or biochemical abnormality is found after comprehensive and costly diagnostic workup resulting in a diagnosis of a disorder of gut-brain interaction (DGBI) most notably irritable bowel syndrome (IBS) or functional dyspepsia. 6 7 Currently, there is no cure and for DGBIs treatment approaches are suboptimal, leading to frequent healthcare consultations by these patients. 8 IBS alone has been estimated to cost more than US$41 billion annually in the USA. 2 For other chronic GI conditions, including gastro-oesophageal reflux disease and inflammatory bowel disease (IBD), the prevalence is increasing, placing pressure on the healthcare system. 9 10 Chronic GI diseases are also associated with significantly impaired quality of life, reduced work productivity, work absenteeism, relationship problems, higher levels of psychological distress and extraintestinal symptoms. 11–16

While there have been impressive advancements into the underlying pathology of chronic GI diseases in recent years, 17 18 there have been delays in the development of novel, pathology-based, subtyping of DGBI to facilitate improved integrated care and rationalised therapeutic strategies in clinical practice. This critical need was recognised by the Australian National Health and Medical Research Council (NHMRC) which funded the Centre for Research Excellence in Digestive Health (CRE-DH) from 2019 to 2024. The CRE’s vision is to advance the understanding, identification and treatment of chronic digestive diseases by implementing a risk-based and pathophysiology-based categorisation of patients and targeted treatments that are suitable for all sectors of the healthcare system (including primary care).

The specific objectives of the CRE scheme are to improve health-related outcomes and enhance translation of research outcomes into policy and/or practice while also building capacity in the health and medical research workforce. 19 This is aligned with the NHMRC definition of the impact of research as ‘the verifiable outcomes that research makes to knowledge, health, the economy and/or society, and not the prospective or anticipated effects of the research’. 20 However, the NHMRC also recognises that ‘the relationship between research and impact is often indirect, non-linear and not well understood and depends on complex interactions and collaboration across the health innovation system. 20 ’ This emphasis on research impact arises from the growing pressure on grant funding bodies to be accountable for taxpayer-funded research and provide evidence of the wider benefits of research above and beyond traditional academic outputs (eg, publications). Examples include evidence of translation to new drugs and devices, changes to policy and practice and ultimately the social and economic impacts on society including the return on research investment, in order to support continued research funding.

In light of the complexities involved in assessing the impact from research, a myriad of Research Impact Assessment Frameworks (RIAFs) have been developed that provide a conceptual framework and methods against which the translation and impact of research can be assessed. 21 22 However, most RIAFs tend to focus on specific research studies rather than research programmes such as CREs and are typically used retrospectively to justify past research investments. In contrast, the Framework to Assess the Impact from Translational health research (FAIT), developed by a team of health economists and health and medical researchers from the Hunter Medical Research Institute, is prospective in design and incorporates monitoring and feedback with the specific aim of increasing translation and impact. 23 Ramanathan et al applied FAIT to the CRE in Stroke Rehabilitation and Brain Recovery and assessed its validity and feasibility. 24 Overall, they found FAIT allowed a wide range of impacts to be reliably reported beyond the standard academic achievements. Thus, to take advantage of FAIT’s comprehensive design and prospective application, and allow for better benchmarking with other CREs, we have selected FAIT to assess the impact of the CRE-DH. This paper describes the protocol of a mixed methods study to:

Demonstrate the research impact and monetise the return on investment in the CRE-DH.

Provide a prospective view of optimising research impact.

Assess the suitability of FAIT.

The anticipated outcomes will be greater transparency and translation of research within CRE-DH, and the data will set the direction for future digestive health planning and prioritisation. In addition, this paper will contribute to this growing area of research impact assessment.

We prospectively applied FAIT to measure the impact of the CRE-DH. FAIT incorporates three validated methods of impact assessment. The Payback Framework describes impact within domains of benefit. Within FAIT, it has been modified to capture impact using quantitative indicators rather than qualitative data. Economic analyses are applied to quantify the return on research investment and narratives are used to describe the pathway to impact and provide qualitative evidence of impact. The assessment of the suitability of FAIT will take the form of a facilitated discussion among authors, at the conclusion of the impact evaluation, to identify the strengths and limitations of FAIT in the context of its application to the CRE and to make suggestions, if appropriate, for its future application

Details of FAIT have been previously published. 23

The setting is the CRE-DH, which is composed of senior, mid-career, early career and student researchers, clinicians, consumers and other key stakeholders in the fields of gastroenterology, immunology, microbiology, epidemiology, dietetics, psychology and biostatistics primarily from four major research centres across Australia. These include the University of Newcastle and Macquarie University in New South Wales, Princess Alexandra Hospital and University of Queensland in Queensland, and Monash University in Victoria, along with substantial international contributions from the University of Leuven in Belgium, McMaster University in Canada, Mayo Clinic in USA and Kings College in the UK. The CRE-DH researchers pool their highly complementary expertise and capabilities for projects within the CRE-DH, which facilitates recruitment of large representative patient cohorts, the availability of cutting-edge methodologies and translation of findings into practice and policy. The CRE-DH was funded ($A2.5 million) from 2019 to 2024.

Participants

These include a mix of experienced, early career and student researchers associated with the CRE-DH and end users of the findings and outputs of the CRE-DH including other DGBI researchers, patients, consumers more broadly, clinicians, health services, policy-makers and industry partners.

Patient and public involvement

Development of the FAIT model involved extensive and broad end user engagement including interviews with the following key stakeholder groups—researchers from across the research spectrum, multiple Australian medical research institutes, health and medical research funders including the NHMRC, Australian Research Council, The Medical Research Futures Fund, NSW Office for Health and Medical Research, Brunel University, UK and Karolinska Institute, Sweden who were leaders in the field at the time and policy-makers. All interviews were conducted by staff from the Health Economics and Impact team at HMRI and covered attitudes to impact measurements, barriers and enablers, what was being done at the time and opinions about what should be done. There was a diversity of views and differences which were reconciled by designing a comprehensive framework (FAIT) that addressed all their needs. There is an absolute bias to selecting and reporting metrics for which there are data and this is addressed by impact planning that ensures as much data as possible is collected from the start. Other ways this bias is mitigated is by expressing the limitations and bias inherent in an impact assessment framework like FAIT.

This was supplemented by broad consumer representation on the CRE-DH advisory board that provided feedback at all stages of CRE-DH impact framework development. The use of the existing Payback domains and input from consumers with a range of conditions and experiences will ensure that the metrics selected reflect a broad range of potential impacts beyond academic impacts.

The study involves a five-stage sequential mixed method design, summarised as follows:

Phase 1: Development of a programme logic model (PLM) to map the pathway to impact and establish domains of benefit and aspirational impacts.

Phase 2: Identifying and selecting appropriate, measurable and timely impact indicators for each of these domains and establishing a data plan to capture the necessary data.

Phase 3: Developing a model for the cost–consequence analysis and identification of relevant data for micro costing and valuation of consequences (where appropriate).

Phase 4: Determining selected case studies to include in the narrative including the data collection for these.

Phase 5: Collation, data analysis and completion of the reporting of impact using the three methods.

Phase 1: development of a logic model to map the pathway to impact and establish domains of benefit

A PLM is a critical component of any FAIT impact assessment. The PLM used in FAIT is a map that follows the pathway from the need for the CRE through its aims, activities, outputs and aspirational impacts. The CRE-DH logic model ( figure 1 ) shows how the needs and aims drive CRE activities. These activities should produce outputs that, when used by an end user, creates an opportunity for the generation of impact. These impacts are articulated as both short-term and medium-long-term impacts under broad domains of benefit such as impacts on knowledge advancement, capacity building, clinical implementation, policy legislation, community and economic impacts. While the PLM appears linear, its application over the lifetime of the CRE-DH will most likely be non-linear and subject to change.

• Download figure
• Open in new tab
• Download powerpoint

Logic model for the CRE-DH. CRE-DH, Centre for Research Excellence in Digestive Health; DGBI, disorder of gut brain interaction; GI, gastrointestinal; QOL, quality of life; TGA, Therapeutic Goods Administratio; EMCR, Early/Mid career researchers

Phase 2: identifying and selecting appropriate, measurable and timely impact indicators for each of these domains and establishing a data plan to capture the necessary data

The PLM ( figure 1 ) identifies the Payback domains of benefits under which the CRE’s impact will be assessed. Impact metrics have been developed and customised for the CRE-DH taking into account their appropriateness for the CRE-DH and its aims and their ability to be measured in a timely manner. Table 1 shows the list of Payback metrics under each domain for which evidence is captured.

• View inline

Payback metrics table for the CRE-DH

Routine monitoring of implementation embedded into each project stream

The purpose of this data collection method is to collect quantitative data to monitor and measure the impact of specific studies within the CRE-DH and its capacity building and translational activities. Initial data collection involves annual distribution of a CRE-DH impact data survey via REDCap to chief investigators and associate investigators to be populated for all their CRE-DH affiliated researchers. Results of the survey are being collated into an Excel file that includes individual spreadsheets that are aligned with impact indicators. Additional data are being retrieved from available sources including publicly available online data from researchers’ university profiles, data collected for triannual CRE-DH advisory board meetings, through ethics systems, publication tracking and evaluation of CRE-DH organised capacity building and translational activities. The Excel spreadsheets for each project stream are being emailed annually to each CI to add any data that has not been captured using the above methods.

Reports during the regular team meetings

This data collection method aims to collect quantitative and qualitative data to monitor and measure the translation, implementation and impact of CRE-DH that are not obtained from routine monitoring. The data are collected online by accessing the recorded monthly CRE-DH meeting minutes and added to project stream spreadsheets or flagged for further discussion in semistructured interviews for vignettes or case study examples of CRE-DH impact, described as part of phase 4.

Phase 3: developing a model for the cost–consequence analysis and identification of relevant data for microcosting and valuation of consequences (where appropriate)

To determine whether the cost associated with the delivery and participation in activities associated with the CRE-DH and the consequences achieved represent a good return on investment, a cost–consequence analysis will be undertaken. 25

First, we will detail out the activities funded by the NHMRC investment. Second, we will microcost any activity and other costs not covered by the US$2.5 million NHMRC research investment and add these to the NHMRC investment as implementation costs. This will include costing all in-kind investigator time and capacity building participation time not directly funded by the CRE monies.

Microcosting data will involve a log of all intervention activities including the individual’s involved, their roles and wages and the time taken for implementation. Other resources such as travel and consumables will also be costed. The proportion of cost attributable to CRE-DH activity will be estimated where feasible.

In collaboration with the lead investigators of the CRE-DH, the consequences of the CRE-DH will be established including the consequences that cannot be monetised and appear in their natural units in the Payback metrics table. For those consequences that can be monetised, economic methods will be employed to adequately monetise their value and determine the appropriate level of attribution to the CRE-DH. This will include a search of the literature for established values for these consequences (where they occur), clearly defined assumptions about these values and sensitivity analyses to account for any variance in these values. Given that CRE-DH activity will be occurring concurrently with other research activities supported by the research institutions from which CRE-DH researchers are affiliated, attribution of consequences (eg, leveraged funding) will take this into account. Where practical, researchers will be asked for their own assessment of CRE-DH attribution to a particular consequence or a conservative attribution percentage will be applied to avoid overclaiming the consequences and impacts of CRE-DH. All values will be converted into Australian dollars and valued in the year that the final analysis is conducted.

Phase 4: determining selected case studies to include in the narrative including the data collection for these

During the course of the CRE-DH, the pathways to adoption of the outputs will be documented by the team and team meetings will be used to highlight potential case studies that can be developed to demonstrate outstanding impacts of the CRE-DH or case studies that describe key learnings. Semistructured interviews will be conducted to collect relevant data that will inform these case studies. It is anticipated that these interviews will be with CRE-DH researchers and key end users, where appropriate.

Semistructured interviews involving CRE-DH staff, collaborative investigators, advisory group members and other key stakeholders

Qualitative data will be collected, to provide context and a richer, more comprehensive overall understanding of the impact of the CRE-DH. Topics of interest will be flagged through the quantitative data collection and in meeting discussions, based on the underlying question of ‘How did this publication, conference presentation, collaboration, capacity building activity or project lead to an impactful outcome that would not have been achieved without the CRE-DH?’ Interviews will be facilitated by the HMRI FAIT team, who have expertise in qualitative data collection for impact evaluation. These data will be narratively synthesised and triangulated with quantitative data and incorporated into impact evaluation reporting within the narrative method and include specific quotes from the researchers and end-users.

Impact assessment data will be collected for the 5-year period from November 2019 to October 2024.

Phase 5: collation, data analysis and completion of the reporting of impact using the three FAIT methods

The data collected over the course of the CRE-DH using the various methods described above will be reported using the FAIT scorecard format. 23

Results for the metrics table will be collated and where bibliometric results are required, a cut-off date will be established after which time, the results will not be updated. The cost–consequence will be reported by way of a cost–consequence table that will only include the consequences that can be monetised. Other consequences will be reported in their natural units in the Payback metrics tables. The narratives will be reported as vignettes highlighting some of the outstanding achievements of the CRE-DH including the pathway to translation and impact.

Ethics and dissemination

This impact evaluation study has been registered with Hunter New England Human Research Ethics Committee as project 2024/PID00336 and ethics application 2024/ETH00290. Results of this study will be disseminated via medical conferences, peer-reviewed publications, policy submissions, direct communication with relevant stakeholders, media and social media channels such as X (formerly Twitter).

This protocol aims to define and describe processes to collect, collate and synthesise data for the CRE-DH to evaluate the impact of the CRE-DH from inception in November 2019 to final data collection in mid-2024 for reporting of outcomes in October 2024. We plan to operationalise this protocol as a mixed-methods study by applying a PLM to the original aims and needs identified in our CRE-DH application, to use that modelling to review CRE-DH progress towards our aims, and to inform prospective direction for the CRE-DH based on ongoing progress and at specified annual data collection review time points. Therefore, our impact evaluation will be an organic, prospective, informative and responsive process, as well as providing an overall final and retrospective account of CRE-DH impact by the end of 2024. Impact will be reported and used to inform future funding applications and direction for digestive health research in Australia, and position the CI, AI and affiliate team as leaders in the field internationally. This impact evaluation will also inform future directions for DGBI and other digestive diseases research, which we expect to overlap and integrate more with related fields such as immune and microbiome research in coming years. The prospective design of our impact evaluation will facilitate expansion into new fields throughout the life of the CRE-DH, which will enhance translation potential, impact and transformative research and clinical practice change.

Although, there are other frameworks from various medical fields 26 to assess evaluation of research outcomes, this evaluation applied the FAIT to the CRE-DH with the explicit aim of optimising research impact and providing direction for future digestive health planning and prioritisation.

Despite the benefits of comprehensively assessing the impact of the CRE-DH using three distinct methods namely quantified impact metrics, a cost–consequence analysis and a narrative of the impact there are some potential risks and limitations. These include (1) Lag in translation could impact on the ability to capture and demonstrate longer-term impacts. (2) Data collection for impact reporting while feasible, does require additional commitment by CRE partners to ensure it is comprehensive and complete. Therefore, this could be seen as an added administrative burden and may not be completed as required. However, the desire to continue the collaboration and the fact that CRE affiliates have been engaged with the impact assessment from the start should provide a counterbalance to the burden. The inclusion of the HMRI Research Impact Team as expert advisors will also ensure that multiple strategies previously used in other CRE impact assessments are employed to enhance data collection. (3) Attribution of impacts is challenging and will have to rely on researchers to attribute the contribution of CRE-DH to a particular consequence. (4) Selection of case studies means other potential impact stories may be foregone.

The novelty of this work is that the application of FAIT is still very much in its infancy with only two protocol papers (both using very different framings for the application) 24 27 and only one results paper published. 28 There is still much to learn and reflect on in the application of such a comprehensive framework, and this protocol paper will provide a useful roadmap for other GI research collaborations planning formal impact evaluations. A deepened understanding about what enhances the impact of a CRE will only be possible when we have benchmarked protocols and outcomes. We will then have the ability to undertake meta-analyses to ascertain what works under what circumstances in order to further enhance the impact in a large and complex research collaborative such as a CRE. Contribution to a larger bank of metrics will give visibility to the potential capacity and capability impacts from CREs.

This study will capture outputs and impacts that have been initiated or enhanced as a result of the CRE-DH’s collaborative efforts of basic scientists, allied health and medical clinician researchers, translational scientists, consumers and advisors across the spectrum from animal, preclinical laboratory research to health service delivery from acute to integrated and primary care settings. All costs for CRE-DH activity will be valued and where possible, the economic analysis will monetise reportable CRE-DH outcomes and impacts. If this is not possible, these impacts will be reported in their natural units. We expect this impact evaluation to comprehensively describe the contribution of the CRE-DH to a range of impacts including any improved outcomes for people suffering with chronic and debilitating digestive disorders. The impact evaluation will inform future directions for digestive health research and assessment of its impact.

Ethics statements

Patient consent for publication.

Not applicable.

• Camilleri M ,
• Williams DE
• Talley NJ ,
• Burke C , et al
• Koloski NA ,
• Thompson WG ,
• Heaton KW ,
• Smyth GT , et al
• Chang L , et al
• Stanghellini V ,
• Hasler WL , et al
• Tornkvist NT ,
• Whitehead WE , et al
• Sepanlou SG ,
• Ikuta K , et al
• Li Z , et al
• Knowles SR ,
• Wilding H , et al
• Loundou A ,
• Hamdani N , et al
• Barberio B ,
• Black CJ , et al
• Canavan C ,
• Pimentel M ,
• Lazaridis N ,
• Germanidis G
• ↵ Available : https://www.nhmrc.gov.au/funding/find-funding/centres-research-excellence
• ↵ Available : https://www.nhmrc.gov.au/research-policy/research-translation-and-impact/research-impact
• Ramanathan S ,
• Angell B , et al
• Bauman AE ,
• Searles A ,
• Attia J , et al
• Deeming S , et al
• Brazier J ,
• Ratcliffe J ,
• Saloman J , et al
• Moldovan F ,
• Moldovan L ,
• Bernhardt J , et al

Twitter @Ramanathan

Contributors NK was involved in conceptualisation, methodology, project administration, writing of the original draft, revisions and editing. KD contributed to conceptualisation, writing of the original draft,revisions and editing. SAR was involved in the conceptualisation, methodology and writing of the original draft. MR, GH and NT were involved in the writing of the original draft, revisions and editing. In addition, GH and NT were involved in funding acquisition and resources.

Funding This work was supported by National Health and Medical Research Council of Australia, APP1170893.

Competing interests NK, KD, SAR and MR disclose no conflicts. NT is Emeritus Editor-in-Chief of Medical Journal of Australia, Section Editor of Up to Date and has research collaborations with Intrinsic Medicine (human milk oligosaccharide), Alimentry (gastric mapping) and is a consultant for Agency for Health Care Research and Quality (fiber and laxation), outside the submitted work. In addition, he has licenced Nepean Dyspepsia Index (NDI) to MAPI, and Talley Bowel Disease Questionnaire licensed to Mayo/Talley, 'Diagnostic marker for functional gastrointestinal disorders' Australian Provisional Patent Application 2021901692, 'Methods and compositions for treating age-related neurodegenerative disease associated with dysbiosis' US Patent Application No. 63/537,725. GH received unrestricted educational support from the Falk Foundation. Research support was provided via the Princess Alexandra Hospital, Brisbane by GI Therapies, Takeda Development Center Asia, Eli Lilly Australia, F. Hoffmann-La Roche, MedImmune, Celgene, Celgene International II Sarl, Gilead Sciences, Quintiles, Vital Food Processors, Datapharm Australia Commonwealth Laboratories, Prometheus Laboratories, FALK GmbH & Co KG, Nestle, Mylan and Allergan (prior to acquisition by AbbVie). GH is also a patent holder for a biopsy device to take aseptic biopsies (US 20150320407 A1).

Patient and public involvement Patients and/or the public were involved in the design, or conduct, or reporting, or dissemination plans of this research. Refer to the Methods section for further details.

Provenance and peer review Not commissioned; externally peer reviewed.

Read the full text or download the PDF:

• Feb 14, 2022

7 Stunning Use Cases For 3D Printing In Medical Field

3D printing, or additive manufacturing, is revolutionizing the medical industry over the past decade. Medical professionals are utilizing 3D printing technology to develop new medical tools, orthopedic implants, and prosthetics as well as the customized replicas of tissues, bones and organs.

3D printed hip implant with new generation of biomaterial that has excellent biocompatibility and promotes bone healing.

Table of Contents

Rising of 3D printing in medical field

Benefits of 3D printing for patient and doctors

Real-life applications of 3D printing in medical field

Let's get started with medical 3D printing

Rising of 3D Printing in Medical Field

According to the Global Market Insights, healthcare 3D printing market size was valued at over USD 1.7 billion in 2020 and is estimated to expand with a CAGR of more than 22.3% between 2021 and 2027.

North America dominates the market for healthcare 3D printing possessing 40% of the market’s shares, valued for over USD 701.4 million. Credit: Global Market Insights

The increasing support for quality control and safety measures from FDA is largely driving the industry development in North America. Additionally, a higher intensity of research and development activities is noted in North America by academic institutions as well as manufacturers.

Benefits of 3D Printing for Patients and Doctors

Personalized healthcare.

Shapeshift production process for customized wearables. Credit: 3D Natives

With recent technology and material advance, additive manufacturing allows for the design and print of more complex designs and material options than conventional manufacturing method. Healthcare professionals can now easily create customized medical tools and implants that are perfectly adapted to a patient’s anatomy, or a specific surgery.

The better fit of prosthetics and implants can drastically reduce the chance of infection, provide pain-free functions and speed up the recovery process.

Fast Design and Production

Traditional prosthetics and implants can take weeks to design and manufacture, especially if they are custom made for a patient.

With 3D printing techniques, healthcare professionals can design and print the object in-house on a professional 3D printer within a few days (and sometimes even less), which is much faster than molded or machine parts.

This could significantly reduce patients’ waiting time and lower the chances of complications that may occur as a result of delayed or unavailable medical devices.

Increase Cost Efficient

3D printing provides patients with affordable tailor-made prostheses and implants that are so expensive in traditional manufacturing processes. There is also no need to make any specialized tooling, jigs or fixtures, and there are no minimum volume requirements.

The entire process – from scanning, to 3D modeling and printing – can be performed simply by a single person and an inexpensive desktop 3D printer, saving time, labor, and money.

Real-life Applications of 3D printing in medical field

1. 3d anatomical models for surgical planning.

Tumor removal surgery performed with 3D planning at SJD Barcelona Children's Hospital. Credit: SJD Barcelona Children's Hospital

In 2013, SJD Barcelona Children's Hospital used 3D printing to plan the first-ever complex cancer surgery in a 5-year-old boy with great success. The boy was diagnosed with neuroblastoma, a rare childhood cancer develops in nerve tissues. To remove the tumor without endangering the patient’s life, surgeons had to skillfully avoid cutting the blood vessels and surrounding organs.

After two unsuccessful attempts, the team created a life-sized, 3D printed replica of the boy's tumor using materials with texture similar to the organs. Using the 3D model, surgeons carefully analyzed the anatomical relationships of tumor, vessels and organs and simulated the highly complex tumor excision. After rehearsing for more than a week, the surgeons successfully removed the tumor from the boy’s body. And the boy was expected to fully recover without additional surgeries.

Since then, 3D technology has been implemented by the hospital professionals in around 100 surgeries since 2017 to plan complex surgical procedures, create cutting guides and surgical tools, design patient specific prostheses and implants. Currently, 3D printing has been rolled out to other specialists in the Hospital including traumatology, maxillofacial surgery, cancer surgery, neurosurgery, cardiology, plastic surgery and dental surgery.

2. Prosthetic limb

Prosthetic socket is tailored to fit the leg of each patient using 3D technology. Credit: University of Toronto Scientific Instruments Collection

There are more than 57.7 million people living with limb loss worldwide. While prosthetic devices can help patients getting around more easily, they remain too expensive and uncomfortable. The problem has become even more obvious in children with limb loss – they outgrow prosthetics quickly and require frequent replacement. It costs an average of USD 80,000 per limb to keep a child outfitted with an appropriate prosthetic.

Using 3D printing technology, the University of Toronto introduced a low-cost, time-saving way to produce custom fit leg socket for children . The process is simple: a technician scan the residual limb, model a socket based on the 3D scanned data, and press "print". After 6 to 9 hours, a socket that is designed specifically for the patient will be ready.

3. Mass Production of Emergency Medical Supplies

3D printed finger splint designed by Ian McHale for temporary stabilization of a finger or joint after an injury. Credit: Thingiverse

Ian McHale, a senior at Steinert High School in United States, developed a design for producing finger splint on a low-end 3D printer in about 10 minutes for less than USD 2 cents of recycled plastic .

McHale understood the difficulties for developing countries in ordering large supplies from overseas, let alone custom splints. That’s why McHale decided to design 3D printed finger splints that were more affordable and readily available. Depending on the platform size, 30 – 40 splints could be printed in a single run. This splint design is also beneficial to clinics, remote hospitals and first-aid posts when supplies run low or special medical tools are required.

McHale’s design won the first prize in his division at the Mercer Science and Engineering Fair and was awarded by the United States Army and Air Force. He believed with a 3D printer, splints can be created on an individual basis and modified to fit various finger sizes. Currently, his design of the 3D printed finger splints is available for free downloading at Thingiverse and he invites people to design their personalized finger splints.

4. Bone Replacement

The KMU Hospital 3D printed an artificial collarbone (clavicle) using PEEK instead of traditional titanium alloy for bone replacement. Source: 3Dnatives

In 2018, the medical team at Kunming Medical University Hospital (KMU Hospital) in China, in collaboration with the 3D printer company IEMAI 3D, successfully transplanted the world's first 3D printed PEEK collarbone . This was performed on a 57-year-old man with advance cancer whose collarbone had to be cut off to remove cancer cells from affected tissues and organs.

To fix the collarbone after resection, doctors at KMU Hospital decided to use a PEEK prosthesis instead of using the traditional titanium mesh – as it won’t affect the patient's later treatment with chemotherapy. PEEK also guarantees faster recovery and demonstrates no side effects to patients.

The introduction of PEEK, ULTEM, PMMA and other thermoplastics to the medical field is opening the way for more patients to undergo implant surgery, as it would not affect their possible future treatments.

5. Skull Reconstruction

Tiffany Cullern underwent surgery to remove a brain tumor and had her skull constructed with a 3D printed skull implant after complications. Source: All3DP

Tiffany Cullern, a 20-year-old girl in Britain, had her skull reconstructed with a 3D printed skull plate .

The young girl suffered from a extremely rare brain tumor. The tumor was a size of a golf ball and kept growing. While surgeons were able to removed the tumor, Cullern was unresponsive with her brain swelled after the surgery. Surgeons could only undergo another operation to remove her skull in order to relive pressure. Since doctors were unsure whether Cullern’s brain would swell again, they leave her skull out until the condition was stable.

Leaving the head with a hand-sized hole for 3 months, Cullern was finally implanted with a 3D printed skull piece made of titanium, plastic, and calcium. She recently got engaged to her boyfriend and is thankful to have her head back to normal and is happy to move on in her life.

6. Human Corneas

Dr Steve Swioklo and Prof Che Connon successfully 3D printed the world’s first human cornea. Credit: Newcastle University

In 2018, the first human corneas was 3D printed by scientists at Newcastle University in United Kingdom.

The researchers worked by mixing healthy corneal stems cells with alginate and collagen to create a printable solution – “bio-ink”. Using a simple 3D bio-printer, the bio-ink was successfully extruded to form the shape of a human cornea in less than 10 minutes.

3D printed corneas were designed according to patient’s unique specifications. By scanning a patient’s eye, researchers could use the data to rapidly print a cornea which matched the size and shape.

Although the 3D printed corneas still require further testing before they are usable for transplant, the scientists at Newcastle University believed 3D printed corneas could relieve the global shortage of donor corneas in near future.

7. Heart Valves

A 3D printed artificial heart valve. Source: 3D Printing Indutry

Jonathan Butcher and his team at Cornell University pioneered 3D tissue printing technology to create living heart valves that possess the same anatomical structure as native valve.

To precisely produce an artificial valve, Butcher’s team had developed algorithms that process 3D image datasets of a native valve and automatically form the full 3D model of the heart valve. Bio-printing is then conducted in a dual syringe system with a mixture of alginate/gelatin hydrogel, smooth muscle cells and valve interstitial cells to mimic the structure of the valve root and leaflets.

Butcher believed bioprinting would gain much more traction in the tissue engineering and biomedical community over the coming years. The patient-specific tissue models would help healthcare professionals in learning disease pathogenesis and screening drug efficacy, or making living tissue replacements tailored directly to patient geometry.

Time to Get Started with Medical 3D Printing!

It is obvious that the trend of using 3D printing in medical field will keep growing, and it is time for us to utilize it to improve patient care.

If you find too complicated to start everything on your own, you can consider consulting with experienced companies. Novus provides medical grade 3D printing filament and 3D printing services for hospitals, researchers and vets.

Contact our expert advisors today at [email protected] for a free consultation.

• 3D Printing

Related Posts

3D Printing In Medical: What Is It? And Why Is It Important?

Choosing 3D Printing Materials for Different Medical Applications

Commentaires

Signup for news & special offers.

Thank you for subscription!

You can cancel your subscription at any time.

An official website of the United States government

The .gov means it’s official. Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

The site is secure. The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

• Publications
• Account settings

Preview improvements coming to the PMC website in October 2024. Learn More or Try it out now .

• Advanced Search
• Journal List
• Portland Press Opt2Pay

Recent developments in genetic/genomic medicine

Rachel h. horton.

Clinical Ethics and Law, Faculty of Medicine, University of Southampton, Southampton, United Kingdom

Anneke M. Lucassen

Advances in genetic technology are having a major impact in the clinic, and mean that many perceptions of the role and scope of genetic testing are having to change. Genomic testing brings with it a greater opportunity for diagnosis, or predictions of future diagnoses, but also an increased chance of uncertain or unexpected findings, many of which may have impacts for multiple members of a person’s family. In the past, genetic testing was rarely able to provide rapid results, but the increasing speed and availability of genomic testing is changing this, meaning that genomic information is increasingly influencing decisions around patient care in the acute inpatient setting. The landscape of treatment options for genetic conditions is shifting, which has evolving implications for clinical discussions around previously untreatable disorders. Furthermore, the point of access to testing is changing with increasing provision direct to the consumer outside the formal healthcare setting. This review outlines the ways in which genetic medicine is developing in light of technological advances.

Introduction

The past two decades have seen major shifts in our technical ability to sequence genetic information at scale. Historically, genetic testing tended to consist of either highly detailed molecular testing of nominated single genes, or broad genome-wide dosage screening at low resolution, for example karyotyping [ 1 , 2 ]. Genome sequencing was too slow and too expensive to be used in clinical contexts: for example the Human Genome Project, which was 99% complete in 2004, cost three billion dollars and took 13 years to sequence [ 3 ].

More recently, advances in sequencing technology have made it possible to undertake broad genetic testing on an individual patient basis within a clinically useful timeframe, via exome and genome sequencing. Exome tests sequence the entire protein-coding region of the genome, representing less than 2% of the genome but containing approximately 85% of known disease-causing variants [ 4 ]; genome sequencing encompasses the exome but also sequences all the non-protein-coding DNA. Initially implementation of such tests was via clinical research studies such as the Deciphering Developmental Disorders project [ 5 ], but more recently exome sequencing has been utilised as a clinical diagnostic test [ 6 ]. Genome sequencing is also due to transition to being available as a standard NHS test in June 2019, having previously only been available via initiatives such as the 100,000 Genomes Project [ 7 ].

Sequencing technology has improved in depth as well as breadth, and this has been of importance in better understanding cancer. The ability to sequence cancer genomes has led to rapid identification of driver mutations and has helped to work out the complex relationships between different cancer subclones over space and time, demonstrating the enormous heterogeneity of cancers and the difficulty of successfully treating them [ 8 ]. As sequencing techniques have advanced to the level where tiny amounts of tumour or individual cells can be sequenced, it has been possible to identify previously unknown mutational mechanisms, such as chromothripsis 1 [ 9 ] and kataegis 2 [ 10 ].

However, our ability to generate genomic data has substantially outstripped our ability to interpret its significance for an individual, and while improvements in genomic technology are in many cases driving improvements in healthcare, we are also encountering new problems as genomic testing shifts into the clinical setting. The Global Alliance for Genomics and Health (GA4GH) predicts that by 2025, over 60 million people will have had their genome sequenced in a healthcare context [ 11 ], but pathways for managing the output from genome sequencing are still in their infancy. The detailed but unfocused approach of genomic tests gives opportunities to answer questions that go beyond the problems that led to a patient having a test. However, deciding which of the multitude of possible outputs from genomic tests should be considered a ‘result’ at any given time is very challenging, not least because the links between many genetic variants and diseases are often unproven or poorly understood [ 12 ]. Multidisciplinary input and collaboration are increasingly key to interpreting the significance of genomic results. This review discusses the developments in practice that are evolving as a result of increasing use of genomic technologies.

New disease gene discovery and changing concepts of diagnosis

Exome and genome sequencing are powerful diagnostic tools – for example the Deciphering Developmental Disorders project, which recruited patients with severe undiagnosed disorders (who had generally already had any currently available diagnostic genetic testing), achieved a 40% diagnosis rate via trio exome sequencing for the first 1133 family trios in the study [ 13 ]. The search for a diagnosis has often been described as a journey [ 14 ], with parents of children with rare genetic disorders anticipating that a diagnosis may guide treatment, prognosis, acceptance and social support [ 15 ]. However, identification of new rare disease genes may be changing the impact of receiving a diagnosis, and in many cases very little is known about the long-term effects of newly identified genetic conditions.

Historically when making a genetic diagnosis, it has usually been possible to give families some information regarding prognosis, and to provide some parameters as to what to expect for the future, based on previous experience of what has happened for other children affected by the same condition. Now, while in some situations due to strong phenotypic match it is possible to be confident that a child’s rare disease has been caused by pathogenic variants in a recently described rare disease gene, often this provides little information about a child’s future.

We are increasingly in the position of learning about the effects of possible disease-causing variation(s) in a gene through meeting the patients in whom such genetic changes have been discovered. Often these changes will be in a gene newly thought to be linked to developmental disorders and there will be little, if any, published literature to draw on. We then have to speculate whether the genetic change detected is the cause of our patient’s health problems, and whether any additional difficulties that have happened for our patient that have not yet been noted in other patients with changes in the same gene are an extension of the phenotype of the newly described disease gene, or coincidental. In situations like this, we are often unable to give people information about what a new diagnosis might mean for them or their child in the longer term.

This has led to patient support and awareness groups taking on an increasingly important role [ 16 ], as families gather to share their lived experience of newly diagnosed rare genetic conditions, in turn informing clinical services. For example, the charity Unique works with families and professionals to develop specialist information relating to many rare and newly described genetic conditions, and to gather information about their long-term effects, increasing awareness and understanding of what it is like to live with rare genetic conditions. The rapidity with which such information can be gathered is also exemplified by the work of the PURA Syndrome Foundation: in 2014 the first patients with a rare condition called PURA syndrome were described in the medical literature [ 17 ]. Shortly afterwards the PURA Syndrome Foundation was established which has catalysed links between families, clinicians and researchers, greatly improving the speed and quality of research into the condition [ 18 ].

The agnostic approach of exome and genome sequencing is also challenging our previous concepts of existing genetic diagnoses, when apparently pathogenic variants are found in well-described disease genes but the patient’s clinical picture falls outside the boundaries of what we would conventionally expect for a patient affected by that particular genetic condition. For example, loss-of-function variants in SOX2 are known to cause anophthalmia and microphthalmia in addition to other phenotypes such as developmental delay and structural brain anomalies. Eye abnormalities were thought to be a key feature of SOX2 -related disorders, and so SOX2 would only be requested as a genetic test in patients who had absent or small eyes. Recently, via ‘genotype-first’ approaches, loss-of-function SOX2 variants have been found in people with developmental delay but without anophthalmia or microphthalmia, broadening the phenotypic spectrum associated with this gene [ 19 ]. Case Study 1 shows a further example where exome testing has extended previous perceptions of the clinical scope of a genetic condition.

Case Study 1

Redefining our understanding of genetic conditions (fictional case based on eggens et al. [ 20 ]).

An 8-year-old girl was referred to clinical genetics in order to investigate her progressive weakness. She had been floppy as a baby and from the age of 5 years had developed worsening limb weakness with frequent unusual movements, and difficulty in swallowing. Serial brain scans had shown progressive cerebellar atrophy.

Exome testing found that she was homozygous for a variant predicted to disrupt the function of EXOSC3 , a gene associated with pontocerebellar hypoplasia. This diagnosis had never been thought of as she did not have one of the defining characteristics: pontine hypoplasia. Her clinical picture also seemed atypical for this condition – most children with pontocerebellar hypoplasia do not survive infancy.

However, recent research has shown genotype–phenotype correlations in EXOSC3 -mediated pontocerebellar hypoplasia – patients homozygous for p.D132A variants (like this patient had) tend to have a milder clinical course and preservation of the pons. This genetic explanation fitted well in retrospect, but would not have been considered in advance of the exome test.

Key messages

• Many well-recognised genetic conditions may have a wider spectrum of effects than previously thought.
• Patients with genetic conditions identified via genomic tests may not conform to the pattern we expect based on experience of patients with the same condition identified via single gene testing. It can be very difficult to be sure whether this reflects an incorrect diagnosis, or a wider disease spectrum than previously recognised.

In many cases, our understanding of why the same genetic condition may be expressed so differently among different people is at an early stage, and this often makes genetic counselling very challenging, particularly in the prenatal setting. For some genetic conditions, it is becoming possible to provide more personalised risk estimates, based on combining knowledge of a person’s genetic diagnosis, with analysis of other factors that may influence their risk. Personalisation of risk in this way has generally been crude and reliant on clinically obvious characteristics: for example, men with pathogenic BRCA variants have a lower risk of developing breast cancer than women with pathogenic BRCA variants. More recently, genetic testing is being developed to complement ‘key’ genetic test results to provide an increasingly refined personal risk. For example, use of a polygenic risk score using breast cancer and ovarian cancer susceptibility SNPs identified via population GWAS showed large differences in absolute cancer risks between women with pathogenic BRCA variants with higher compared with lower polygenic risk score values [ 21 ]. This has yet to translate into routine clinical practice, but has the potential to help women with pathogenic BRCA variants make more informed decisions about how and when to manage their cancer risk.

The downsides of improved sensitivity: increased uncertainty in what tests mean

The prior probability of any one variant identified via genome sequencing being causative for a patient’s rare disease is extremely low. Attempts to catalogue human genetic variation, for example via the 1000 Genomes Project, show that a typical human genome differs from the reference human genome at 4.1–5 million sites [ 22 ]. Most of these variations will be entirely benign, some may subtly impact on risk of various common diseases, and a very small number will have the potential to cause serious disease either in an individual, or in their children (potentially in combination with variants inherited from their partner).

Genome sequencing identifies the majority of these variants, which then need careful filtering to produce a meaningful output. This has required a significant change in mindset from an era when most variants were identified in the context of carefully chosen single gene sequencing, and so had a much higher prior probability of being causative. There is an increasing shift towards a view that variants should be ‘innocent until proven guilty’ [ 23 ], but there is a lack of consensus regarding how to translate this principle into clinical practice.

There is also considerable discrepancy in how different genetics laboratories interpret the same variants. International guidelines for variant interpretation are helpful but insufficient to remove a great deal of noise when attempting to assign significance to particular findings [ 24 ]. This was illustrated in a recent study comparing variant classification among nine genetic laboratories: although they all used the same guidelines, only 34% of variants were given the same classification by all laboratories, and 22% of variants were classified so differently that different medical interventions would be recommended [ 25 ]. At a lower resolution level, even being sure of the relationship between genes and diseases is often difficult. For example, curation of the 21 genes routinely available on Brugada syndrome gene panels using the ClinGen gene curation scoring matrix found that only one of these genes was definitively linked to Brugada syndrome [ 26 ]. Our improving knowledge of variant interpretation leaves us with a difficult legacy, with many patients having been diagnosed incorrectly with genetic conditions. The effects of this can be far-reaching and difficult to undo, as illustrated by Case Study 2 .

Case Study 2

The legacy of incorrect diagnosis (case reported by ackerman et al. [ 27 ]).

A teenage boy died suddenly and genetic testing was then undertaken for his brother, resulting in the finding of a rare variant in KCNQ1 . On the basis of this test, the living brother was diagnosed with long QT syndrome, and the teenage boy’s sudden death was attributed to long QT syndrome. The living brother had an implantable cardioverter defibrillator inserted, and via cascade genetic testing over 24 relatives were diagnosed as having long QT syndrome, despite having normal QT intervals on ECG.

However, subsequent examination of post-mortem samples found that the boy who died had cardiac features inconsistent with long QT syndrome, did not have the KCNQ1 variant found in the wider family, and instead had a clearly disease-causing de novo variant in DES , a gene linked to cardiomyopathy.

• It is very important to consider whether the clinical picture fits when evaluating variant significance: genetic variants will usually only predict disease well if found in the context of a medical or family history of the relevant disease.
• Incorrect (or inappropriately deterministic) genetic test interpretation can affect the clinical care of a whole family, not just the person being tested.

Although this suggests that we need to be very cautious in making firm genetic diagnoses, it is difficult to know where the threshold should lie for communicating genetic variation of uncertain significance. There is some evidence that people find receiving a variant of uncertain significance surprising and disturbing, and some people misinterpret it as being definitely pathogenic or definitely benign [ 28 ]. However, there is also evidence that many people have a strong desire to receive a broad range of results from genetic testing, including uncertain results, and are uncomfortable with the idea that decisions about non-disclosure might be made without involving them [ 29 ].

The fear is that disclosure of uncertain variants will lead to over-diagnosis and over-management, with variants inappropriately being treated as if pathogenic. Excessive and inappropriate interventions (not to mention anxiety and distress) might then cascade through families, going against one of the fundamental principles of medicine to ‘first do no harm’. However, we also fear missing something or being accused of ‘hiding information’. The result is that we tend to end up in purgatory, documenting uncertain variants on lab reports (though sometimes not) and having lengthy conservations with patients about them (though sometimes not), then tacking on a caveat that ‘maybe this means nothing’. This nominally shifts the responsibility to the next person in the chain but feels unsatisfactory for all concerned.

Uncertainty when to stop looking and what to communicate

Another issue arising from improved sensitivity is the ability to find genetic variants that are unrelated to the clinical problem that a patient presents with, but that may be relevant for their health in other ways. This may be viewed as positive or negative, but working out how to handle this information raises difficult questions. In 2013, the American College of Medical Genetics and Genomics (ACMG) suggested that laboratories should automatically seek and report pathogenic variants in 56 genes associated with ‘medically actionable’ conditions when performing clinical sequencing [ 30 ]. The main rationale was the potential to benefit patients and families by diagnosing disorders where preventative measures and/or treatments were available, with the aim of improving health. However, these recommendations proved controversial. The main debate at the time centred around whether patients should have a right to choose not to know such information [ 31 ]. Subsequent questions about the role of clinicians in offering additional findings, what constitutes a ‘medically actionable’ finding, and what is the predictive value of such findings in the absence of a phenotype or family history of the relevant disorder, are yet to be fully addressed.

Analysis of data from the 1000 Genomes cohort demonstrated that approximately 1% of ‘healthy’ people will have a ‘medically actionable’ finding in one of the 56 genes [ 32 ]. However, what this might mean on an individual basis is often unclear. Most of our knowledge regarding the effects of variation in any given gene has been gathered by observing people who have been identified as having variants in the gene because they were tested as they had a personal history or family history of disease, biasing the sample from which our conclusions are drawn. It is less clear what it might mean to find, for example, an apparently pathogenic variant in a gene linked to cardiomyopathy in a person with no personal or family history of heart problems. This has important implications for ‘cascade screening’, where relatives of a patient affected by a condition with a known genetic cause are offered testing to see whether they have the disease-causing genetic variant that was found in their clinically affected family member (meaning that they may also be at risk of developing the disease). To what extent should testing and subsequent screening be offered in a family based on an incidental finding of a genetic variant thought to be predictive of a particular condition, if there is no clinical evidence that anyone in the family, including the person in whom the genetic variant in question was first identified, is actually affected by it?

Broad genomic testing also has the potential to detect carrier status for recessive and X-linked conditions. From population studies, we know that being a carrier for a genetic condition is very common. For example, a gene panel testing carrier status for 108 recessive disorders in 23453 people found that 24% were carriers for at least one of the 108 disorders, and 5.2% were carriers for multiple disorders [ 33 ]. On a disorder-by-disorder status, being a carrier for a genetic condition is very rare (with notable exceptions such as haemochromatosis and cystic fibrosis), but when considered collectively, it is ‘normal’ to be a carrier for a genetic condition. For most people, being a carrier will have no impact on their life at all. However, if their partner happens to be a carrier for the same condition then the implications could be very profound, as each of their children would have a one in four chance of being affected by the genetic condition. This is particularly relevant for couples who are known to be biologically related [ 34 ], and couples with common ancestry, as they will have a higher chance of both being carriers for the same recessive condition. Carrier screening for various autosomal recessive diseases has been available in some instances for many years, for example screening for carrier status for Tay–Sachs disease for people of Ashkenazi Jewish ancestry has been offered since the 1970s [ 35 , 36 ]. More recently, advances in technology have led to development of expanded carrier screening tests, which check carrier status for multiple diseases simultaneously and are often less targeted towards particular genetic populations [ 37 ].

The increased scope of carrier screening, combined with the recognition that it is very common to be a carrier for one or more recessive genetic conditions, has led to an increasing move to consider carrier results for recessive genetic conditions on a couple basis, where carrier status is only communicated if it would be relevant in the context of a particular relationship (i.e. if both people in a couple are carriers for the same condition) [ 38 ]. This avoids pathologising the status of ‘being a carrier’, recognising that most of us are carriers for some genetic conditions, and conserves resources for genetics services by not flooding the system with large volumes of individual carrier results, most of which will be meaningless in the context of that individual’s life. Objections to this approach are that by not communicating individual carrier results, a person would not know this information for future relationships, and their family could not access cascade screening to see whether they are also carriers. However, these objections could be obviated by widespread adoption of couple carrier testing – a person (or their close relatives) could find out their carrier status if relevant when they next had a couple carrier test in the context of their new relationship. In some ways, this could be seen as comparable with management of infectious disease – lots of healthy people carry MRSA, but very few die of MRSA infection. People are therefore screened at times when they might be especially vulnerable to becoming unwell from MRSA, or when they might pass it on to others at risk, for example when admitted to hospital, rather than being tested at random points when they are generally well.

The expanding remit and availability of genetic technology

‘acute genetics’.

For many years, clinical genetics input has at times influenced acute care, for example in diagnosing trisomies in the neonatal period, or informing the care of babies born with ambiguous genitalia. However in many circumstances, the key contribution of clinical genetics was in providing a post hoc explanation for serious medical problems, rather than in influencing treatment decisions on a real-time basis. This is changing as the availability of exome and genome sequencing increases, as shown by Case Study 3 . A recent study in a neonatal intensive care unit in Texas studied outcomes for 278 infants who were referred for clinical exome sequencing, and found that 36.7% received a genetic diagnosis, and medical management was affected for 52% of infants with diagnoses [ 39 ]. There is increasing evidence that this approach is cost-effective: for example, a prospective study of exome sequencing for infants with suspected monogenic disorders found that standard care achieved an average cost per diagnosis of AU$ 27050, compared with AU$ 5047 for early singleton exome sequencing [ 40 ]. Similarly, ‘real-time’ genetic and genomic testing is making an impact in cancer treatment, where in many cases testing is available to help guide treatment choices by identifying actionable genetic variants in tumours that may respond to specific therapies [ 41 , 42 ].

Case Study 3

Insights from exome testing transforming a clinical course (case from wessex genomic medicine centre [ 43 ]).

A young woman was referred for exome testing having spent months in a coma. From childhood she had experienced sensory problems, and as a young adult she had gone on to develop seizures which deteriorated into status epilepticus, necessitating ventilation on intensive care.

After 3 years during which all other avenues had been explored, analysis of her exome was proposed. An unexpected diagnosis of pyridoxine-dependent epilepsy was found; this had not previously been considered as classically it causes seizures in the first few months of life. She began treatment with pyridoxine (vitamin B 6 ). From that point on she had no further seizures and her clinical situation transformed. Over a 6-month period she was weaned off all of her anti-epileptic drugs, and was able to return to a normal life.

Key message

• Exome or genome tests have the potential to make an enormous difference to clinical care and to people’s lives.

Pharmacogenomics

As well as guiding treatment choice, genetic testing will increasingly influence what doses are prescribed, and whether medications are considered unsuitable in view of a high risk of an adverse reaction. Around the time that the Human Genome Project was completed, there was considerable excitement about the possibility of genetic testing guiding use of medication in the clinic [ 44 , 45 ]. The potential of genotype-driven drug dosing has for the most part yet to be realised, in part because the interaction of the genetic factors involved is sometimes complex, and in part because environmental factors may also have a significant impact on how a person responds to a drug. For example, genotype-driven prescription of warfarin, which has notoriously wide inter-individual variation in dosage requirements, largely remains in the realm of research [ 46 ].

However, for some drugs, pharmacogenomics has already had a significant impact in reducing morbidity and mortality. For example, when the antiretroviral drug abacavir was first introduced, approximately 5% of the people treated developed an idiosyncratic hypersensitivity reaction that could be life-threatening on repeated exposure to the drug [ 47 , 48 ]. Research established that immunologically confirmed hypersensitivity reactions to abacavir only occurred in people with the HLA-B*5701 allele, and a clinical trial went on to show that pre-screening patients to check that they did not have HLA-B*5701 prior to starting the drug led to no confirmed hypersensitivity reactions in the pre-screened arm, while 2.4% of the unscreened patients had reactions [ 49 ]. Patients are now screened for HLA-B*5701 as standard before starting abacavir treatment [ 50 ]. Similar screening is likely to become more widespread as we learn more about genetic risk factors for adverse drug reactions. For example, there are increasing suggestions that the mitochondrial variant m.1555A>G should be checked in patients with cystic fibrosis in order to guide antibiotic treatment choices, in view of the evidence that people with this variant may develop hearing loss when exposed to aminoglycosides [ 51 ].

Evolving options in prenatal genetics

Genetic testing is also being used more extensively in the prenatal setting, in part because of developments in non-invasive prenatal testing and diagnosis, which allow genetic screening or testing of a developing pregnancy by doing a blood test for the mother [ 52 ]. This removes the risk of miscarriage associated with conventional prenatal tests (chorionic villus sampling or amniocentesis). While this is in some ways a stride forward, it raises various ethical issues, as the technical test safety may lead to such testing becoming viewed as routine. This raises the concern that couples will give less careful consideration as to whether they really want to know the results before having such tests, and that women may feel that there is an expectation that they should have testing. The worry is that this could potentially lead to people feeling under pressure to terminate pregnancies in response to genetic test results (including in situations where the clinical implications of the results may be far from clear) [ 53 ].

Widening access to genetic testing within healthcare

The expanding options for genetic testing and the escalating expectation for quick results to drive clinical management mean that testing provision is increasingly being pushed out of highly specialised genetics centres into mainstream medicine. For example, many women with ovarian cancer will now be offered BRCA testing via their oncology team, and only referred to genetics if needed based on the test results [ 54 ]. Genetics appointments now frequently focus on interpretation of tests already done, working out if the test outcome seems to match the clinical problem, and arranging testing and surveillance for family members.

The rise of direct-to-consumer genetic testing

As clinical services have increasingly grown to expect and demand genetic answers for patients with complex health problems, on a broader societal level the hunger for genetic information also seems to be increasing. However this is occurring in the context of a public discourse about personalised/precision medicine and genetics that tend to enthusiastically promote it in a very optimistic light, rarely dwelling on potential concerns and limitations, and therefore potentially sculpting inappropriate expectations from technology that is still being developed [ 55 ].

Direct-to-consumer tests currently sit outside much of the regulation that governs clinical genetic testing, but claim to provide insight into issues as diverse as ancestry, nutrition, athletic ability, and child talent [ 56 ]. Many testing providers also claim to help provide insight on health, though the information provided by many direct-to-consumer companies is far from comprehensive. For example, a recent analysis of 15 direct-to-consumer genetic testing companies advertising to U.K. consumers found that none of them complied with all the U.K. Human Genetics Commission principles for good practice regarding consumer information [ 57 ]. There are also examples that might make us reflect sceptically on the value of these tests – for example a case where a family sent a sample from their dog to a direct-to-consumer testing company designed to provide insights on people’s genetic ‘superpowers’ and received a report which did not mention that the sample was not human but conjectured that the client would be talented at basketball [ 58 ].

‘DIY genetics’ has also risen in popularity, with people asking for raw data from direct-to-consumer companies then processing this themselves via third-party interpretation services, as discussed in Case Study 4 . Approximately 40% of genetic changes in direct-to-consumer test raw data sent for clinical confirmation are false positives [ 59 ], but this is often not appreciated by customers or the doctors they may subsequently visit, leading to anxiety and often inappropriate medical interventions [ 60 ]. However, clearly many people see a value in receiving genetic information and are prepared to pay for this. This marks a shift from genetic testing in order to explain health problems or for people at high risk of developing specific genetic conditions, to testing of healthy people with the rationale of facilitating life planning. This idea has been taken to the extreme with initiatives such as the BabySeq project, exploring the medical, behavioural and economic impacts of integrating genome sequencing into the care of healthy newborns [ 61 ].

Case Study 4

Grime on the crystal ball (fictional case based on moscarello et al. [ 60 ]).

A healthy medical student was given a direct-to-consumer genetic test for Christmas, and explored the raw data from this test using an online interpretation programme, finding a variant in MYBPC3 that was predicted to cause hypertrophic cardiomyopathy. He was understandably worried by this result, taking time off university as he came to terms with it, and giving up running, which he used to really enjoy.

He was seen in a hypertrophic cardiomyopathy clinic and had an expert cardiology assessment including ECG, echocardiogram and review of his family history. He was found to have no clinical evidence of hypertrophic cardiomyopathy, and further genetic testing showed that he did not actually have the disease-causing MYBPC3 variant that the online interpretation programme had identified. However, he continued to feel anxious about his risk of heart problems and decided to give up running permanently.

• Information provided from direct-to-consumer testing may be unreliable, especially where online interpretation programmes are used to further explore the raw data from the test: the level of quality control may be very different from that of accredited genetic laboratories, increasing the likelihood of false positives, false negatives and sample mix-up.
• Many direct-to-consumer genetic tests involve no meaningful pre-test counselling – people are often totally unprepared for the information that might come out of such testing (and are unaware that it might be wrong).

Genetic information as family information

The familial nature of genetic information has always generated discussion as to how to respect the confidentiality of individual patients while ensuring that their close relatives have access to information that may be relevant for their own health and life choices. Clinical guidance in this area has increasingly taken the stance that genetic information should be confidential to families, not individuals (though the personal consequences of having a genetic change for a given individual should be confidential to them alone) [ 62 ].

The consequences of this shift are still being navigated in the clinical setting – research indicates that patients often see genetic information as belonging to their family rather than exclusively to them [ 63 ], but healthcare professionals are often reticent about taking a familial approach to the confidentiality of genetic information in practice, worrying that this stance could disrupt family dynamics or erode patient trust in the health service [ 64 ]. A recent BMJ poll which asked, ‘Are there situations when sharing a patient’s genetic information with relatives without consent is acceptable?’ demonstrated the current split in opinion, with 51% of respondents answering ‘yes’ and 49% ‘no’ [ 65 ]. The personal versus familial nature of genetic information is currently being tested in the courts via the ABC case, which centres around non-disclosure of genetic risk to the daughter of a patient with Huntington’s disease [ 66 ].

Treatment for genetic disorders

One of the most exciting recent developments in genetics and genomics is the prospect of treatment for an increasing number of genetic conditions. However this topic has to be treated with caution as the practical reality for many patients and families is that though promising research is ongoing, meaningful treatment is not possible in many cases. Even in situations where evidence-based treatments have been developed, the expense of many of these therapies risks making them inaccessible.

Many different approaches have been taken to try to treat genetic conditions. Gene therapy, which involves delivering functional genetic code, is one approach but its success has been widely variable, often due to difficulty in developing vectors that can deliver genetic material into affected tissues at sufficiently high levels without being destroyed by the immune system. In certain situations this approach can be highly effective, for example promising results have been achieved in various eye conditions, likely because eyes are small and easily accessible, and have a privileged relationship with the immune system [ 67 ]. In cases aiming to deliver gene therapy to a wider area, such as the lungs or the muscles, treatment attempts have generally proved more challenging [ 68 , 69 ].

Other approaches include use of small molecules to modify various steps in the pathway from gene to functional product. For example, Eteplirsen aims to treat Duchenne muscular dystrophy in certain patients by influencing splicing machinery to skip exon 51 from mature DMD mRNA, restoring a more functional reading frame so that a shortened version of dystrophin can be successfully translated [ 70 ]. Ivacaftor potentiates the action of CFTR channels in some patients with cystic fibrosis (G551D pathogenic variant) [ 71 ]. Enzyme replacement therapy is being trialled to treat children with mucopolysaccharidoses, for example idursulphase infusions in mucopolysaccharidosis type 2 [ 72 ].

While lots of these therapies are very exciting and show demonstrable changes at the molecular level in clinical trials, these cellular changes do not always clearly translate into improvements in clinically relevant outcomes. The therapies are also often hugely expensive, which raises very difficult ethical questions regarding whether limited resources should be spent on such treatments where there is often only limited proof of clinical efficacy.

However the increasing possibility of future treatments for genetic conditions is influencing clinical decisions around the care of very ill children. For example, recently nusinersen has shown promise as a treatment for some children with spinal muscular atrophy, but this may begin to raise new questions about whether interventions such as intubation and tracheostomy should be offered to infants with severe spinal muscular atrophy, where previously these would have been considered medically inappropriate [ 73 ]. This has consequences for the clinical conversations happening when these diagnoses are made. In the past, breaking news of such a diagnosis might flow naturally into discussions around palliation. The possibility of treatment now creates new options to consider, but also new challenges in considering with parents how best to care for their child [ 74 ]. The clinical impact and accessibility of emerging treatments is often very uncertain, but parents may prefer to explore even extremely long-shot treatments over accepting a palliative care pathway route, and may expect or seek crowd funding for experimental treatments for which there is as yet very little, if any, evidence of benefit.

Improving genetic technology has also had a significant impact on fertility services, ranging from pre-implantation genetic diagnosis to mitochondrial donation, offering new options for families affected by genetic conditions [ 75 , 76 ]. Increasing technological capability is set to extend the theoretically possible range of options – for example last year a group in China used the CRISPR/Cas9 system to correct pathogenic variants in the HBB and G6PD genes in human zygotes [ 77 ], though the efficiency and accuracy of the correction procedure was variable. This emerging possibility raises significant ethical issues which need debate. A recent report of the Nuffield Council on Bioethics on genome editing in the context of human reproduction suggested that there may be certain contexts in which this may be ethically acceptable, provided that such interventions were intended to secure the welfare of a person who may be born as a result, and that any such interventions would uphold principles of social justice and solidarity [ 78 ].

Conclusions

Insights from genomic technology have great potential to improve health, but we are currently going through a teething process in learning how to respond to the nebulous information that genomic tests can provide in the clinical setting. In part, this learning process is being driven by patients and families, with patient support groups coming to the fore in an era where we can now make extremely rare diagnoses that link different families across the world, but often have very little information on what this might mean for the future. Our current response to the outcomes from genomic tests is often reactive and ad hoc, partly because we are still learning how to interpret genomic variation and are often unable to gain a consensus on whether genetic variants are clinically significant or not. This situation is exacerbated by the different routes in which genomic information is now accessible – rapid tests to establish diagnosis or plan treatment for patients are now a reality in the real-life clinical setting, but healthy people also have increasing access to commercial tests that claim to provide genetic information to improve health and life planning. This raises particular challenges in the context of a public discourse about genomics that tends to present it as far more predictive and certain than it actually is. Some of the most exciting recent developments in genomic medicine relate to potential future treatments and reproductive options for people and families affected by rare genetic conditions. However hurdles relating to treatment efficacy and optimal timing of treatment, mean that we need to keep these advances in perspective and consider how to research potential treatments responsibly, avoiding creating hype that undermines the ability of families to make a balanced decision whether or not to participate in this research. It is also important to consider financial sustainability, avoiding situations where useful new treatments are developed that remain inaccessible to the patients who need them on account of their cost. To summarise, the introduction of genomic testing is having a big impact on patient care, but raises various issues that need further study and debate in order to help us maximise the potential benefits of genomic medicine while minimising the possible harms.

Acknowledgments

We thank the patient in Case Study 3 for her help with the Case Study box and for sharing her story.

Abbreviations

1 Complex chromosome rearrangements, thought to occur due to single catastrophic events where chromosomes ‘shatter’ and are repaired by error-prone mechanisms.

2 Clusters of localised mutations.

This work was supported by funding from a Wellcome Trust collaborative award [grant number 208053/Z/17/Z (to A.L.)].

Competing interests

The authors declare that there are no competing interests associated with the manuscript.