Second-Opinion Systems for Rare Diseases: A Scoping Review of Digital Workflows and Networks

Résumé fourni par la source

Introduction: Rare diseases disperse expertise across institutions and borders, making structured second-opinion systems a pragmatic way to concentrate subspecialty knowledge and reduce diagnostic delays. This scoping review mapped the design, governance, adoption, and impacts of such services across implementation scales. Objectives: To describe how second-opinion services for rare diseases are organized and governed, to characterize technological and workflow models, to summarize benefits and barriers, and to identify priority evidence gaps for implementation. Methods: Using a population–concept–context approach, we included peer-reviewed studies describing implemented second-opinion systems for rare diseases and excluded isolated case reports, purely conceptual proposals, and work outside this focus. Searches in August 2025 covered PubMed/MEDLINE, Scopus, Web of Science Core Collection, Cochrane Library, IEEE Xplore, ACM Digital Library, and LILACS without date limits and were restricted to English, Portuguese, or Spanish. Two reviewers screened independently, and the data were charted with a standardized, piloted form. No formal critical appraisal was undertaken, and the synthesis was descriptive. Results: Initiatives were clustered by scale (European networks, national programs, regional systems, international collaborations) and favored hybrid models over asynchronous and synchronous ones. Across settings, services shared reproducible workflows and provided faster access to expertise, quicker decision-making, and more frequent clarification of care plans. These improvements were enabled by transparent governance and dedicated support but were constrained by platform complexity, the effort required to assemble panels, uneven incentives, interoperability gaps, and medico-legal uncertainty. Conclusions: Systematized second-opinion services for rare diseases are feasible and clinically relevant. Progress hinges on usability, aligned incentives, and pragmatic interoperability, advancing from registries toward bidirectional electronic health record connections, alongside prospective evaluations of outcomes, equity, experience, effectiveness, and costs.

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