Pharmafile Logo

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.

- PMLiVE

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 Power of Disease Awareness in Infectious Disease Education at IDWeek 2023

Medscape Education had one of its biggest conferences of the year with IDWeek 2023, hosting six educational symposia and presenting five scientific posters highlighting the outcomes of recent infectious disease...

Hear From Her: Announcing The Women in Healthcare Leadership Series Podcast

On the 8th November 2023, Medscape will launch the first episode of their new podcast: the Women in Healthcare Leadership Podcast Series.This insightful series was designed to elevate and empower...

Medscape Education Invites Listeners to ‘Hear From Her’ With New Women in Healthcare Leadership Podcast Series

Medscape Education has launched their new podcast: the Women in Healthcare Leadership Podcast Series. The series, hosted by Medscape Education employees, features women in leadership roles across industry as well...

Sharing Outcomes in MS at ECTRIMS 2023

During ECTRIMS 2023 congress, the Medscape Education Global team will be on site to present a poster of their educational outcomes.The poster, Virtual Patient Simulation Improves Neurologists’ Performance in Making...

Shining a Light on Current Topics in Oncology

The Medscape Oncology team will be on the road again, this time in Madrid, Spain for ESMO 2023. This year, the team will be sharing education with a deep impact...

Disseminating Outcomes and Impact in Berlin

The Medscape Education Global team is looking forward to a busy time in Berlin at the EADV Congress 2023. During the congress, Medscape will be presenting five posters examining the...

Medscape Education’s Large Presence at IDWeek 2023

Medscape are powering education and disease state awareness in infectious diseases at #IDWeek 2023

Contagious Conversations: Exploring Infectious Disease in the Digital Age

As the world of medicine continues to evolve, it's crucial to stay ahead of the curve. In this dynamic era, digital communications have emerged as a driving force in discussions...

Presenting Outstanding Outcomes from HCP Education in Multiple Myeloma at IMS in Athens

From September 27-30, members of the Medscape Education Global team were in Athens, Greece sharing 5 posters at the International Myeloma Society Annual Meeting, 2023.The posters presented the outcomes and...