JMIR Publications

ABSTRACT

Rare diseases have garnered increasing attention in public policy discussions due to their complexity, low prevalence, and considerable challenges in healthcare settings. Comprehensive care for people with rare diseases requires strengthening existing services, programs, and levels of care. It is imperative to make available digital health tools that can contribute to epidemiological surveillance activities and patient follow-up, as well as to the education and awareness of health professionals about these conditions. This study seeks to implement enhanced actions aligned with the National Policy for Comprehensive Care for People with Rare Diseases to improve the attention and care provided to individuals. This will be achieved by developing a computational tool and establishing guidelines to optimize the regulation of the Reference Services for Rare Diseases, providing updated information to expedite diagnosis and promote collaboration. This includes mapping the regulation scenarios for patients in the Clinics Hospital of Ribeirão Preto Health Complex. The participants will be healthcare professionals from the hospital complex, associated Primary Care Centers, and patients with a confirmed or suspected rare disease selected through medical records and patient associations. Data gathering methods include questionnaires, semi-structured interviews, and patient tracking using health information systems. The project will apply the 5W2H framework to structure its actions, focusing on aligning tasks, responsibilities, and resources. Integrating digital tools adhering to FAIR - Findability, Accessibility, Interoperability, and Reusability - principles will promote real-time monitoring, improved resource allocation, and enhanced workflow efficiency. Training initiatives will boost awareness and capacity among healthcare providers, while the computational tool seeks to streamline patient follow-up and tracking. Digital integration will reduce referral process inefficiencies and support evidence-based decision-making. Education and awareness campaigns will fill knowledge gaps among healthcare professionals and patients. Future efforts will focus on expanding the tool’s implementation, refining its functionalities, and evaluating its long-term impact on patient outcomes and system efficiency. This initiative underscores the critical role of integrating digital technologies in rare disease management and the importance of continued collaboration among healthcare stakeholders to achieve sustainable patient care and policy development improvements. The study emphasizes the potential of digital health solutions to transform rare disease care by improving coordination, resource allocation, and stakeholder education. Its adoption can enhance access to specialized care, reduce inefficiencies, and inform public health policies. The National Rare Diseases Network's participation and the leadership role of the Academic Health Complex of the Clinics Hospital of Ribeirão Preto will be crucial for the project's success, highlighting the importance of using updated scientific knowledge to foster network collaboration and combat the stigma of rare diseases.