Pharmafile Logo

#ShortenTheJourney

February 18, 2026 | Education, Real World Outcomes, rare disease 

- PMLiVE

For the millions of people living with a rare disease, the path to a diagnosis (if ever received) is often a long and frustrating odyssey. This delay is frequently driven by a simple but systemic hurdle: many healthcare professionals (HCPs) rarely encounter specific rare conditions in daily practice, and symptoms are often variable and non-specific, leading to missed signs and misdiagnoses. However, new research by Medscape presented at the World Orphan Drug Congress Europe 2025 suggests a powerful solution lies in precision targeted medical education.

The Power of Targeted Learning

A series of analyses conducted by Medscape Education Global evaluated how online Continuing Medical Education (CME) influences real-world clinical behavior. By tracking insurance claims and National Provider Identifier (NPI) data, researchers compared clinicians who participated in rare disease education against similar cohorts who did not. The results across various specialties—neurology, gastroenterology, and endocrinology—were consistent and striking.

  • Genetic testing in pediatric neurology: Specialists who participated in education were 69% more likely to order critical genetic tests, such as multigene panels, specific genetic tests, and whole exome sequencing compared with those who didn’t participate1
  • Rare endocrinology: Education was associated with a significant 157% increase in claims for rare conditions like Cushing syndrome and X-linked hypophosphatemia2
  • Rare liver disorders: A significant 120% increase in coding for conditions such as Alagille syndrome and hepatic porphyria from gastroenterologists/hepatologists2
  • Rare neurological conditions: Participation in CME was associated with a significant 78.5% increase in claims for 11 complex conditions, including ALS and Rett syndrome2

- PMLiVE     - PMLiVE

Why It Matters

The significance of these findings rests in the shift from theoretical knowledge and competence to active clinical application. By providing online, accessible education on a free, membership-based platform, rare disease education gives doctors the knowledge, competence, and confidence to order the right diagnostic tests, and apply the correct diagnostic codes earlier.

These studies suggest that online education is a powerful clinical intervention and a positive lever to improve patient outcomes. By equipping healthcare providers with the tools to recognize “the zebras among the horses,” we can shorten the diagnostic journey, ensuring patients receive life-altering treatments years earlier than they otherwise would.

References: 

  1. Rohani-Montez SC et al. Are Pediatric Neurologists Who Participate in Rare Disease Education More Likely to Order Genetic Tests for Rare Diseases? Presented at World Orphan Drug Congress Europe 2025
  2. Rohani-Montez SC et al. Continuing Medical Education is Significantly Associated With Increased Rare Neurological, Endocrine and Liver Disease Diagnoses in Real World Practice. Presented at World Orphan Drug Congress Europe 2025

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 

Being Rare Together: Medscape Education Sponsors the 2025 Cholestatic Liver Disease Summit

Medscape Education is a proud sponsor of the inaugural 2025 Cholestatic Liver Disease Summit, taking place June 26–28 in Aurora, Colorado, at the Hyatt Regency Aurora-Denver Conference Center. Hosted in...

New Alzheimer’s Treatments Are Driving a Shift in Earlier Detection and Clinician Education Engagement

June is Brain and Alzheimer’s Awareness Month — a chance to examine real-world data that links new treatments to changing clinical behavior.

“Humanizing Healthcare, Humanizing Education: The Power of Patient Integration”

Victoria Harvey-Jones, PhD, Clinical Strategist (Oncology) and Worldwide Patient Integration Lead to Present at the 2025 Patient Centricity & Engagement Conference

Driving Impact in Diabetes Care: Medscape to Present 11 Publications at ADA’s 85th Scientific Sessions

Medscape Education is proud to present 11 publications at the American Diabetes Association 85th Scientific Sessions, taking place June 20–23 in Chicago. These presentations reflect our commitment to advancing diabetes care...

Medscape Education Celebrates 30 Years of Impact with Launch of The Center of Excellence for Instructional Design

Medscape Education, a global leader in healthcare education, proudly announces the official launch of its Center of Excellence for Instructional Design—a central hub of expertise and strategic capability, dedicated to...

Medscape at the American Diabetes Association’s 85th Scientific Sessions: Your Sweet Spot for Innovation!

The American Diabetes Association’s 85th Scientific Sessions is almost here, and Medscape is ready to make an impact in the world of diabetes care! With two groundbreaking symposia, 11 dynamic...

Sharing Educational Outcomes at EHA 2025

Medscape Hematology will be at EHA 2025 to showcase the power of education impact through online abstracts, posters, and 4 symposia.

30 Years of Innovation in Education at HLTH Europe

The Medscape Education Global team will be travelling to Amsterdam for the HLTH Europe 2025 conference to showcase the power and value of CME. As pioneers in clinician education for...

Medscape Online Continuing Medical Education Led to New Diagnoses in Alzheimer’s Disease

Medscape Education has recently published a study looking at the real-world impact of online continuing medical education on Alzheimer's disease diagnosis. Read the full article here.  The study, published in...

Medscape Oncology at ASCO 2025: Driving Innovation, Education & Better Patient Outcomes

Medscape Oncology is making a powerful impact at ASCO 2025, bringing seven high-impact symposia, new research insights, and the return of the Medscape Fellows Program—all aimed at educating the next...