Main Recommendations for Developing Education and Awareness Strategies for Rare Diseases: Scoping Review

According to the World Health Organization, education and awareness are essential components of public health promotion strategies. In the context of rare diseases (RDs), these actions are particularly critical because of persistent stigma, fragmented knowledge, and the frequent absence of consolidated clinical and organizational protocols. These gaps often result in inappropriate referrals, inefficient care pathways, unnecessary procedures, and delays in diagnosis, negatively affecting health outcomes and quality of life.

This study aimed to identify and systematize the main recommendations for health education and awareness in the field of RDs, supporting the development of health care programs, public policies, and strategic initiatives.

We formulated the research question using the Population, Concept, and Context framework. This scoping review followed the PRISMA-ScR (Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews) guidelines to ensure methodological transparency. Eligible records included peer-reviewed research articles of any design and official documents published in Portuguese, English, or Spanish, with no time restrictions. Records that did not address the research question, lacked sufficient rigor, or focused exclusively on specific subgroups of RDs were excluded. Searches were performed in PubMed/MEDLINE, Scopus, Embase, Web of Science, as well as gray literature. Study selection and data extraction were conducted by the research team, with disagreements resolved and the included sources reviewed by an RDs expert. Data were thematically categorized by consensus, and descriptive statistics were used to summarize findings.

A total of 58 sources of evidence were included. Among the identified recommendations related to education and awareness, most sources focused on professional education and training (49/58, 84.4%), followed by public policies and intersectoral integration (36/58, 62%), education and awareness for the general population (28/58, 48.2%), digital technologies (27/58, 46.5%), emotional support and experience sharing (20/58, 34.4%), and awareness events and dates (8/58, 13.7%). Percentages exceed 100% because individual sources could report multiple recommendations. Overall, the literature emphasizes integrating RDs content into educational initiatives and strengthening professional competencies, intersectoral collaboration, digital technologies, and broader awareness strategies.

This scoping review systematically mapped and organized recommendations from diverse sources of evidence on strategies for health education and awareness related to RDs. It synthesizes heterogeneous evidence using a structured approach to provide a comprehensive overview of strategies in this field, consolidating dispersed knowledge into a coherent body of evidence. The findings may inform improvements in health services, as well as professional and managerial practices, and initiatives aimed at supporting patients, families, and advocacy groups involved in RDs, with potential implications for strengthening diagnostic processes, referral coordination, and more equitable access to information and care.