As genomic discovery transitions from variant-centric queries to longitudinal clinical utility, the GA4GH Beacon ecosystem faces a critical fragmentation risk. This session, co-led by the Clin/Pheno and Discovery Work Streams, addresses the urgent need to evolve clinical data models within Beacon to support high-fidelity, multimodal data discovery. We will conduct a hands-on review of current Beacon v2.0 entities (Individual, Biosample, Disease) against the GA4GH Phenopackets v2.0 standard and real-world models like OMOP and FHIR.
Participants will workshop technical requirements for queries involving longitudinal tracking, SDOH integration, AI-driven semantic mapping, support measurement and evidence data, and enable cross-standard semantic anchors, all to future-proof against emerging multi-omics needs.
Goal: a prioritised roadmap for schema alignment, ensuring Beacon remains the lingua franca for federated discovery without sacrificing clinical granularity. This interactive session is vital for implementers, clinicians, and data architects aiming to bridge the code to clinic gap.