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 

Medscape Wins Anthem Award for Rare Disease Education Platform

Platform has reached 2.4 million healthcare professionals worldwide since 2021. Newark, NJ - [November 18, 2025] - Medscape, the leading digital platform for physicians and healthcare professionals (HCPs), has been...

Shifting the Paradigm: A New Era for Parkinson’s Care

In this episode of “Hear From Her:” Hear from two leaders at the forefront of a much-needed change in how Parkinson’s is understood, diagnosed, and treated.

World Orphan Drug Congress 2025 in Amsterdam

Medscape Education will make its debut at the World Orphan Drug Congress (WODC) 2025, taking place in Amsterdam, the Netherlands, October 28-29.

Medscape Education: Pioneering Pathways at ESMO 2025

Medscape Oncology will be pioneering pathways at the 2025 ESMO congress taking place in Berlin, Germany this October.

Game On: Medscape Education Golfs for a Cause

Medscape Education is proud to stand alongside the National Kidney Foundation (NKF) as a sponsor of one of the nation’s most impactful charity events benefiting patients living with kidney disease,...

Innovation in Action at AAFP FMX 2025

This year, Medscape Education is redefining the live learning experience at AAFP FMX 2025. With 8 groundbreaking, accredited symposia, we are proud to be at the heart of the meeting,...

Shifting the Paradigm: A New Era for Parkinson’s Care

In this episode of “Hear From Her:” Hear from two leaders at the forefront of a much-needed change in how Parkinson’s is understood, diagnosed, and treated.

Global Healthy Living Foundation and Medscape Education Join Forces to Bridge the Gap Between Patients and Providers with Immunology Education

UPPER NYACK, N.Y.--(BUSINESS WIRE)--The Global Healthy Living Foundation (GHLF) today announced a new partnership with Medscape Education to advance patient-centered innovation within the Immunology Learning Nexus (Nexus), Medscape’s flagship multi-year...

Breakthrough Alzheimer’s Therapies Drive Early Detection Rates While Exposing Deep Treatment Disparities

Analysis from Komodo Health and Medscape Education shows cognitive screening up 10% and biomarker testing up 23%, yet significant disparities persist in detection for women and treatment access for Black...

Virtual Practice, Real Results: The Power of Virtual Patient Simulation

Simulation has never been more vital in medicine than it is today. As increasing numbers of physicians turn to large language models for clinical answers1, the real differentiator isn’t just...