Building a digital platform for collaborative second opinions in rare disease: Integrating AI and healthcare networks for improved care

The RD2O platform is a digital solution designed to support second opinions in rare disease care, particularly in healthcare systems marked by regional disparities, such as Brazil’s. Developed through action research and grounded in a sociotechnical approach, RD2O connects general practitioners, specialists, and patient associations via a secure web portal. The platform allows the submission of clinical and non-clinical queries, which are supported by generative AI models and validated by human experts. Preliminary evaluations demonstrate that RD2O streamlines complex case discussions, enhances the accuracy of second opinions, and contributes to a growing, publicly accessible educational database. Its modular architecture integrates clinical guidelines, privacy protocols, and telehealth tools, making it scalable and adaptable to other national contexts. RD2O ensures ethical, user-centered, and evidence-based digital health transformation by embedding evaluation mechanisms at every stage of development. This platform exemplifies how collaborative, AI-assisted systems can strengthen RD care, inform public policy, and generate validated knowledge through a secure, auditable process.