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.
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.
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.
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
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