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 

Impactful Advances in Aesthetic Medicine

Medscape is pleased to announce new advancements within its Clinical Advances in Aesthetic Medicine. Launched in 2022, this initiative has effectively educated MD practitioners, showcasing measurable outcomes with submissions to...

A Pulse on Innovation at the Heart of Cardiology 2025

MedscapeLIVE! is proud to present its annual Heart of Cardiology meeting, returning for its fifth year in Miami, Florida from January 24-26, 2025. Over 3 packed days at the Fontainebleau...

A Sparkling Achievement: Sarah Atwood Celebrated as a 2024 CPD Forty Under 40

For Sarah Atwood, MPH, the proudest moment of her incredible career in education and instructional design is happening right now. Atwood is an instructional designer with a public health lens...

A Successful Outing at ASH 2024

Medscape has wrapped up their work at this year’s ASH annual meeting in San Diego. During the conference, Medscape hosted 8 symposia that presented the latest data and supported advancing...

Highlighting the Power of Patient-Integration

Advancing person-centered care is an important topic for the Medscape Oncology team, and no one knows this better than Dr Victoria Harvey-Jones, Associate Director of Clinical Strategy for Medscape Oncology...

Education, AI and More at ASH 2024

Medscape will showcase eight educational symposia and three posters at ASH 2024, highlighting advancements in hematology and oncology education. The presentations will reflect on the impact of last year's programs,...

Getting to the Heart of the Matter: Medscape Education at AHA 2024!

Come join Medscape Education at the American Heart Association (AHA) 2024 Scientific Sessions in Chicago, IL, from November 16-18 — a dynamic event packed with cutting-edge cardiology education that you...

Medscape Publication is Awarded Poster of Distinction at AASLD

Medscape Education is committed to disseminating the outcomes of the education programs through peer-reviewed publications and posters at leading medical conferences around the world. To this end, Medscape publishes more...

Advancing Education at AASLD 2024

Get ready for an exciting experience at AASLD 2024! The Medscape team is thrilled to be in San Diego from November 15-19 for this year’s AASLD conference, where we will...

Recognizing C diff Awareness Month in 2024

Every year, the medical community recognizes the month of November as Clostridioides difficile (C. diff) Awareness month. C. diff is a public health threat that causes around 500,000 infections every...