Rare disease education in medical schools: patient-centered and innovative strategies

TL;DR

This paper explores how medical schools can better educate students about rare diseases through patient panels and other innovative methods to improve future care.

Contribution

The study introduces a patient and caregiver panel as an innovative strategy to enhance medical students' understanding of rare diseases.

Findings

Student attitudes, knowledge, and confidence in caring for rare disease patients improved significantly after participating in the patient panel.

A scoping review revealed diverse educational interventions for rare diseases, but most lacked input from patients and caregivers.

Effective methods included lectures, case studies, role-playing simulations, and artificial intelligence.

Abstract

Globally, approximately 300 million people live with a rare disease, while in the United States, nearly 30 million, or 1 in 10 Americans, have a rare disease or disorder (RD) (The Lancet Global Health. Lancet Glob Health 2024. 10.1016/S2214-109X(24)00244-0; National Center for Advancing Translational Sciences. Rare disease day at NIH 2024; 2024). Despite the prevalence of RDs, many physicians do not have adequate awareness of RDs or training to care for RD patients. RD advocates are focusing on undergraduate medical education to improve timely and quality care for RD patients. Thus, in 2023, the authors conducted an RD patient panel at their medical school and a scoping review of global medical schools’ approaches to integrating RD education into their curricula. While the panel was implemented in a U.S. context, the scoping review revealed diverse approaches applicable worldwide, highlighting the need to prepare medical students for the global burden of RDs, which affect approximately 300 million people across WHO regions, with significant challenges in low- and middle-income countries (LMICs) (The Lancet Global Health. Lancet Glob Health 2024. 10.1016/S2214-109X(24)00244-0).

In 2023, the authors implemented an RD patient and caregiver panel for first-year medical students (n = 175) and Special Master’s Program students (n =109). Pre- and post-panel surveys with ANOVA statistical analysis assessed attitudes toward and knowledge of RDs. The systematic scoping review from the databases MEDLINE, Embase, ERIC, and Web of Science sought international literature written in English discussing RD education in medical schools. From 11 relevant studies, the authors analyzed broad trends in RD education and their outcomes.

Pre- and post-survey results from the patient panel demonstrated improved students’ attitude, knowledge, and value of RDs. Confidence in caring for RD patients also increased significantly. From the scoping review, educational intervention types and content varied broadly among medical schools. Many institutions employed multiple interventions simultaneously, and all reported positive attitudes, higher knowledge from participants, or both. However, interventions lacked input from RD patients and caregivers.

Patient panels improved students’ understanding of the RD patient experience. Beyond patient panels, effective approaches in RD education in undergraduate medical curricula included lectures, case studies, role-playing simulations, artificial intelligence, and more. The authors hope medical schools will continue to implement RD education into their curricula.

The online version contains supplementary material available at 10.1186/s13023-025-03771-8.

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