Does Rare Disease Education Work?
December 23, 2025 |
For a child with a rare disease, a doctor’s continuing education can end a years-long diagnostic odyssey and unlock access to vital care.
A harmful adage in diagnosis
In medical school, doctors are taught, ‘When you hear hoofbeats, think horses, not zebras,’ guiding them to focus on diagnosing common conditions and discard the possibility of a rare condition. Yet, approximately 5% of the global population does have a rare condition, which, collectively, isn’t rare.1 These patients experience an average diagnostic delay of four to five years, and depending on the condition, sometimes over 10 years.
Continuous learning for physicians
Most rare diseases are genetic and ~70% present in paediatrics, but paediatricians are regularly missing these cases.2 Unfortunately, very little time, if any, is dedicated to learning about rare diseases in medical school. Thus, for doctors to unlearn that potentially harmful adage about horses and zebras, they must learn about rare diseases by participating in continuing medical education throughout their careers.
‘When should I re-investigate a possible misdiagnosis?’ ‘What signs should make me think it might be a rare condition?’ These are the questions continuing medical education strives to answer.
Does rare disease education work?
Medscape Education features the largest collection of online continuing medical education programmes in rare disease, teaching about over 100 different rare conditions as well as rare disease foundations, patient voices and case challenges.
To evaluate the impact of education on real-world practice, we asked whether paediatricians who participated in rare disease education versus those who didn’t were more likely to order genetic tests (assessed via 30 relevant procedural codes). Analysing recent Medscape internal data from 24 paediatrics-geared programmes, we found that among paediatricians who ordered genetic tests, those who participated in rare disease education (n = 100) ordered them significantly more commonly than those who didn’t participate (n = 341).
Those who participated ordered genetic tests for an average of 9.63 patients versus an average of 5.70 patients among those who didn’t participate, representing 69% more patients per educated paediatrician who received a genetic test.
This has major implications for shortening the rare disease diagnostic delay in paediatric practice. If patients can get a diagnosis as early as possible, preferably as a child, as a result of better-informed doctors, we can end the frustrating diagnostic odyssey and enable earlier access to appropriate care.
Sources:
2. Nguengang Wakap S, Lambert DM, Olry A, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020;28(2):165-173. http://doi.org/10.1038/s41431-019-0508-0
1. Rohani-Montez SC, Bomberger J, Zhang C, et al. Educational needs in diagnosing rare diseases: A multinational, multispecialty clinician survey. Genet Med Open. 2023 Apr 17;1(1):100808. doi: 10.1016/j.gimo.2023.100808
For more information, please contact Christy Rohani Montez PHD –
srohani@medscape.net
About Medscape Education
Medscape Education (medscape.org) is the leading destination for continuous professional development, consisting of more than 30 specialty-focused destinations offering thousands of free CME and CE courses for physicians, nurses, and other healthcare professional
This content was provided by Medscape Education
Company Details
Latest Content from Medscape Education
The Lasting Impact of Cytomegalovirus Education
Education on the signs, symptoms, and potential complications of cytomegalovirus (CMV) is in need of constant development, as this common disease affects nearly 1 in 3 children by age 5...
Medscape Education Publishes the Results of Multinational, Multispecialty Survey of Physicians on Rare Disease Educational Needs
Medscape Education has published the results of a global survey of its kind, assessing the educational needs of physicians on rare diseases. This survey of 978 clinicians worldwide across 16...
Medscape Showcases Outcomes in Austria for EASL Congress
Medscape recently attended the EASL Congress in Austria, where they successfully showcased the outcomes of their Wilson Disease education program. One of their achievements was presenting a poster on "Online...
Medscape is Bringing Outcomes to the #HomeOfNeurology
Budapest, Hungary is set to become Medscape's next destination as they gear up for the highly anticipated 9th Annual Congress of the European Academy of Neurology. As an integral part...
Medscape Education: ACOG 2023 Publication
Medscape Education is making a difference! We are wrapping CMV Awareness Month with a look at the impact of CMV education on OB/GYN learners. Take a look as Medscape Senior...
It’s the Era of Outcomes at ERA 2023
The Medscape team has bid farewell to the beautiful city of Milano, Italy and our European nephrology colleagues. The team was thrilled to meet up with so many ground-breaking clinicians,...
International NASH Day 2023
Shari Dermer, PhD of Medscape Education, hosted Michael Betel, Founder and President of Fatty Liver Alliance, in an engaging conversation around the importance of NASH awareness, diagnosis, and prognosis. Listen...
Shining a Spotlight on Patient Centricity in Frankfurt for EHA
The Medscape Oncology team has made their way back from Frankfurt, Germany after another successful EHA 2023 conference. While at the event, the team interacted with conference attendees at the...
Skylines and Oncology Headlines in Chicago for ASCO 2023
ASCO 2023 was a huge success for Medscape Oncology with connections made with members and conference attendees during the event at the Medscape Oncology booth on the exhibit floor and...
Medscape Oncology and American Society of Clinical Oncology Collaborate to Offer Cancer-Specific Training to Multidisciplinary Members of the Oncology Care Team
This week Medscape Oncology announced an exciting collaboration with ASCO® which you read on the Cision PR news wire here or below:The American Society of Clinical Oncology (ASCO®), a leader at...