JMIR Publications

ABSTRACT

Background:

Objective:

This study aims to implement initiatives aligned with the National Policy for Comprehensive Care for People with Rare Diseases. The goal is to improve patient care by developing a computational tool and guidelines for optimizing the regulation of Reference Services for Rare Diseases, expediting diagnosis, and fostering collaboration.

Objective:

Results:

Initial outcomes focus on developing a computational tool to enhance patient tracking and follow-up, reduce referral inefficiencies, and support evidence-based decision-making. Training initiatives have increased awareness and capacity among healthcare providers. The digital integration has improved resource allocation and workflow efficiency. Education campaigns addressed knowledge gaps among healthcare professionals and patients, promoting better understanding and managing rare diseases.

Methods:

The study includes mapping the regulation scenarios for patients within the Clinics Hospital of Ribeirão Preto Health Complex. Participants include healthcare professionals from the hospital complex and associated Primary Care Centers and patients with confirmed or suspected rare diseases, selected through medical records and patient associations. Data collection methods involve questionnaires, semi-structured interviews, and patient tracking using health information systems. The project applies the 5W2H framework to structure its actions and integrates digital tools adhering to FAIR principles (Findability, Accessibility, Interoperability, and Reusability).

Results:

Initial outcomes focus on developing a computational tool to enhance patient tracking and follow-up, reduce referral inefficiencies, and support evidence-based decision-making. Training initiatives have increased awareness and capacity among healthcare providers. The digital integration has improved resource allocation and workflow efficiency. Education campaigns addressed knowledge gaps among healthcare professionals and patients, promoting better understanding and managing rare diseases.

Conclusions:

Digital health solutions demonstrate substantial potential to transform rare disease care by enhancing coordination, resource allocation, and stakeholder education. The initiative highlights the critical role of the National Rare Diseases Network and the Academic Health Complex of the Clinics Hospital of Ribeirão Preto in fostering collaboration, improving care delivery, and combating the stigma surrounding rare diseases. Future efforts will focus on expanding the tool's implementation, refining functionalities, and evaluating its long-term impact on patient outcomes and healthcare system efficiency.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.

Conclusions:

Digital health solutions demonstrate substantial potential to transform rare disease care by enhancing coordination, resource allocation, and stakeholder education. The initiative highlights the critical role of the National Rare Diseases Network and the Academic Health Complex of the Clinics Hospital of Ribeirão Preto in fostering collaboration, improving care delivery, and combating the stigma surrounding rare diseases. Future efforts will focus on expanding the tool's implementation, refining functionalities, and evaluating its long-term impact on patient outcomes and healthcare system efficiency. 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.