Strengthening rare disease response in the community of Portuguese-speaking countries: a position paper on digital health innovation and international cooperation

Résumé fourni par la source

Abstract Rare diseases (RDs) affect millions across the Community of Portuguese-Speaking Countries (CPLP), yet fragmented governance, uneven diagnostic capacity, and limited data interoperability constrain timely diagnosis and access to care. Anchored in the first-ever World Health Assembly (WHA) resolution on RDs, this position paper outlines a pragmatic Lusophone agenda that couples standards-based data infrastructure with regulatory alignment, workforce development, and cross-border collaboration. We conducted a narrative, policy-oriented synthesis drawing on scientific literature, policy and institutional documents, international RD initiatives, and existing collaborative efforts among CPLP countries. We focus on Orphanet RD codes (ORPHAcodes) for disease coding, the Human Phenotype Ontology (HPO) for structured phenotyping, Global Alliance for Genomics and Health (GA4GH) Phenopackets for computable case exchange, and governance models for secure, federated data sharing. We highlight operational lessons from European Reference Networks and tele-expertise platforms, and we foreground equity and privacy safeguards—dynamic consent and federated analytics—as key design considerations for low-connectivity contexts. Building on the experiences of Brazil and Portugal, as well as emerging African initiatives, we propose a sequenced roadmap for national registries, virtual multidisciplinary boards, and capacity-building pipelines aligned with global standards. Implementation metrics include time to confirmed diagnosis, proportion of molecular confirmations, and geographic equity in access. The recommendations are intended as a propositional roadmap requiring national validation, local adaptation, and sustained governance to reduce inequities in RD care.