Christy Rohani-Montez, Ph.D.
Director of Clinical Strategy, Medscape Education Global
Education on rare diseases is crucial. Estimates suggest there are approximately 10,000 rare diseases, with 263–446 million people affected worldwide.
Since its launch in September 2022, the Medscape Pathways in Rare Disease Learning Centre has reached over 1 million learners, with education spanning 25 therapeutic areas. Considering the volume of monthly learners engaging with the education, an average of over 900,000 patient lives are potentially being positively impacted every month.
Gaps in rare disease care
Many patients face a long road to diagnosis, often receiving inappropriate management for years before their condition is correctly identified. These delays can have a detrimental effect on their quality of life and lifespan. They can result in many patients undergoing inappropriate, and sometimes painful, tests and interventions in their search for answers.
A need for rare disease education
In June 2023, Medscape Education published the results of a multispecialty, multinational survey of 978 clinicians across 16 specialties.1 The key findings were:
- Two-thirds of clinicians considered rare diseases to be between 50 to 500 times rarer as compared with standard US or EU definitions.
- Despite an estimated point prevalence for rare diseases of 3.5% to 5.9% of the world population, 59% reported never, or rarely (one to two times per year), seeing a patient with a rare disease in their practice.
- Although 87% reported having been involved in a rare disease diagnosis, only 19% were mostly or very confident in making the diagnosis.
- Clinicians experience diagnostic barriers, including knowledge of signs and symptoms, time to investigate, guideline availability, test access and referrals.
The survey showed that preferences for rare disease education included a comprehensive learning platform with current education and resources and case and text-based formats shorter than 15 minutes — taught by world-renowned experts.
Many patients face a long road to diagnosis,
often receiving inappropriate management for
years before their condition is correctly identified.
Access to education and training
On the Pathways in Rare Disease Learning Centre, clinicians can access the largest collection of accredited rare disease activities, rare disease factsheets, patient journey videos and more.
Medscape is proud to be collaborating with Medics4RareDiseases (M4RD), which passionately advocates for rare disease patients and provides both online and in-person rare disease training, with a focus on the patient experience and practical guidance for the clinician.
By expanding the Pathways in Rare Disease Learning Centre, and examining learning gaps and needs, the key objective is to shorten the diagnostic gap and enable patients around the world to receive the care they need.
[1] Rohani-Montez SC, et al. Educational needs in diagnosing rare diseases: A multinational, multispecialty clinician survey. Genetics in Medicine Open. Volume 1, Issue 1, 2023, 100808.
