JMIR Publications

ABSTRACT

Background:

According to the World Health Organization, education and awareness are essential for the success of public health promotion strategies. In the context of rare diseases, these actions are even more critical due to the persistent stigma and discrimination associated with such conditions. This situation is further aggravated by the lack of available structured knowledge and, in some cases, the absence of consolidated clinical and organizational protocols for proper disease management. As a result, referral errors, inefficient patient flows, and unnecessary procedures are common, often delaying timely and accurate diagnoses. These delays hinder the initiation of appropriate treatments and contribute to the deterioration of patients' clinical conditions.

Objective:

This study aims to identify and systematize core guidelines and recommendations for health education and awareness in the field of rare diseases, supporting the development of programs, policies, and strategies in this area.

Methods:

The research question was formulated using the Population, Concept, and Context approach, which is particularly suited for exploratory investigations aimed at mapping existing knowledge and identifying gaps. To ensure methodological rigor and transparency, the scoping review followed the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) framework, which guided the identification, screening, and selection of studies. All procedures, including database selection, search strategy, study selection, data extraction, and synthesis methods, were systematically documented to support the reproducibility and robustness of the findings. A rare diseases specialist served as an adjudicator during the final screening phase to minimize bias and ensure alignment with the eligibility criteria.

Results:

We included 32 studies in our scoping review. The results revealed significant gaps in structured knowledge about rare diseases among healthcare professionals in various roles and specialties, alongside a lack of training, capacity-building, and continuing education. Recommendations include integrating rare disease content into professional curricula and promoting workshops with up-to-date information. The use of digital health tools and platforms was suggested to support knowledge dissemination, along with leveraging social media for public awareness and professional engagement. Broader guidelines emphasize the development of public policies, intersectoral collaboration, government investment, research networks, and improved health information systems. Education and awareness efforts targeting the general population were also highlighted, advocating for accessible, validated information through both digital and traditional channels. Emotional support, experience-sharing, awareness campaigns, and the establishment of dedicated awareness days were identified as key strategies to strengthen visibility and engagement with the rare diseases agenda.

Conclusions:

This study provides a structured synthesis of international guidelines and recommendations for education and awareness in the field of rare diseases, supporting the development of inclusive healthcare practices, strategies, and public policies. The findings contribute to mapping existing knowledge, guiding strategic planning, and identifying gaps for future actions and initiatives in the rare disease context.