The Need for and Impact of Rare Disease Education
February 28, 2023 | Medscape, Rare Disease Day, medical education, rare diseases
Physicians are often told that when they hear hoofbeats, think horses, not zebras — to look for the most common cause of a patient’s symptoms first. While this advice may help them through most of their interactions, there are millions of patients worldwide whose health depends on their clinicians doing the exact opposite — considering zebras, and looking for rare diseases.
While rare diseases are individually rare, they are collectively common, affecting an estimated 263 to 446 million people1 worldwide. For most, the road to diagnosis is a long one, with the mean time to diagnosis stretching to 5-7 years, but sometimes more than 10 years.2-5 Along the way, these patients may be subjected to pain, worsening of symptoms, unnecessary diagnostic tests, and ineffective treatments.
To combat the challenges faced by clinicians, more education is needed, particularly as clinicians move past medical school and residency and into practice. In a survey of almost 1000 clinicians, the prevalence of rare diseases was underestimated by 50 to 500 times as compared with current European or US prevalence definitions; and almost two-thirds of clinicians said they never or rarely see patients with rare diseases.
The data show that not only do clinicians want and need education on rare diseases, but continuing medical education (CME/CE) on Medscape.org has a significant impact on clinicians’ knowledge and competence.
Between 2018 and May 2021, more than 245,000 unique clinicians from around the world engaged in rare disease educational activities on Medscape.org. These physicians had measurable improvements in their knowledge and competence after participating in the activities, as measured by their ability to correctly answer relevant questions pre versus post education, including:
Non-physicians saw similar increases in knowledge and competence, including
Most importantly, this means that 676,000+ patient visits per year now have physicians who are better prepared to identify patients who have a rare diseases, as measured by IQVIA data.
Education is having an impact, but more is needed to fully equip clinicians with the knowledge they need. Medscape Education is committed to developing the education clinicians need and provide it in a centralized location on Medscape.org. Pathways in Rare Disease is a destination page clinicians can return to at any time for the latest education across the spectrum of rare diseases.
To learn more about Medscape Education’s rare diseases education initiatives, please contact your Medscape Representative.
- Nguengang Wakap S, Lambert DM, Olry A, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Human Genet. 2020;28:165-173.
- Yan X, et al. Determining How far an adult rare disease patient needs to travel for a definitive diagnosis: a cross-sectional examination of the 2018 National Rare Disease Survey in China. Int J Environ Res Public Health. 2020;17:1757.
- Engel PA, et al. Physician and patient perceptions regarding physician training in rare diseases: the need for stronger educational initiatives for physicians. J Rare Disord. 2013;1:1-15.
- Global Genes. Accurate diagnosis of rare diseases remains difficult despite strong physician interest. 2014. Accessed January 18, 2023. https://globalgenes.org/2014/02/20/accurate-diagnosis-of-rare-diseases-remains-difficult-despite-strong-physician-interest-2/
- Marwaha S, et al. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome. Genome Med. 2022;14:23.
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