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Main Recommendations for Developing Education and Awareness Strategies for Rare Diseases: Scoping Review
Diego Bettiol Yamada1, Tatiana Takahasi Komoto1, Vinícius Costa Lima1,2
1Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, Brazil.
JMIR Medical Education
|June 12, 2026
Summary
This scoping review identified key recommendations for rare disease (RD) education and awareness strategies. Findings highlight the need for professional training, public policy integration, and digital tools to improve care and patient outcomes.
Area of Science:
- Public Health
- Medical Education
- Health Policy
Background:
- Rare diseases (RDs) present unique challenges including stigma and fragmented knowledge.
- Gaps in RD education lead to diagnostic delays and inefficient care pathways.
- Effective health education and awareness are crucial for improving public health outcomes in RDs.
Purpose of the Study:
- To systematically identify and organize recommendations for health education and awareness in rare diseases.
- To support the development of targeted health care programs and public policies for RDs.
- To consolidate dispersed knowledge on RD awareness strategies.
Main Methods:
- Scoping review following PRISMA-ScR guidelines.
- Inclusion of peer-reviewed articles and official documents in English, Spanish, or Portuguese.
- Thematic categorization of data and descriptive statistics for analysis.
Main Results:
- Professional education and training were the most frequent recommendations (84.4%).
- Public policies, intersectoral integration (62%), and general population awareness (48.2%) were also significant.
- Emphasis on integrating RD content into education, strengthening professional competencies, and utilizing digital technologies.
Conclusions:
- This review synthesizes diverse evidence on RD education and awareness strategies.
- Findings can inform improvements in health services, professional practices, and patient support initiatives.
- Recommendations aim to enhance diagnostic processes, referral coordination, and equitable access to care for RDs.
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