Promoting Comprehensive Care for People With Rare Diseases in a Tertiary Care Setting in Brazil: Protocol for a Mixed Methods Implementation Study.

BACKGROUND

Rare diseases (RDs) have gained attention in public policy due to their complexity and low prevalence and the challenges they present in health care settings. Comprehensive care for people with RDs requires strengthening of services, programs, and care levels. It is imperative to make digital health tools available to support epidemiological surveillance, facilitate patient follow-up, and enhance the education and awareness of health care professionals (HCPs) regarding these conditions.

OBJECTIVE

This study aims to implement enhanced actions aligned with the Brazilian 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 RDs, providing updated information to expedite diagnosis and promote collaboration.

METHODS

The methodology includes mapping the regulation processes in the Clinics Hospital of Ribeirão Preto Health Complex. Participants will include HCPs from the hospital complex and associated primary care centers and patients with a confirmed or suspected RD selected through medical records and patient associations. Data collection methods include questionnaires, semistructured interviews, and patient tracking using health information systems. The project will apply the 5W2H (what, who, where, when, why, how, and how much) framework to align tasks, responsibilities, and resources. Integrating digital tools adhering to the 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 HCPs, while the computational tool seeks to streamline patient follow-up and tracking. Digital integration and interoperability will reduce referral process inefficiencies and support evidence-based decision-making. Education and awareness campaigns will fill knowledge gaps among HCPs and patients.

RESULTS

Ethics approval was granted on December 9, 2024. We conducted technical meetings with the IT team to align procedures for obtaining secondary data. Concurrently, we identified key guidelines and applied a knowledge management maturity questionnaire based on which we began mapping RD-related management processes. A computational ontology is currently under development to ensure semantic interoperability. This framework supported initiatives promoting education and awareness regarding RDs, targeting HCPs and patients.

CONCLUSIONS

The study emphasizes the potential of digital health solutions to transform RD care by improving coordination, resource allocation, and stakeholder education. When effectively adopted, these solutions can enhance access to specialized care, reduce inefficiencies, and inform public health policies. 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 highlights the crucial role of integrating digital technologies in managing RDs and underscores the need for ongoing collaboration among health care stakeholders to achieve sustainable improvements in patient care and policy development.

INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): PRR1-10.2196/68949.