Over the years, GA4GH has collaborated with multiple organisations to enhance data standards and interoperability in genomics. Building on these efforts, we are excited to introduce a new multi-organisation project focused on Family Health History (FHH) using FHIR (Fast Healthcare Interoperability Resources) standards. This project aims to leverage the KIN ontology and incorporate a Phenopacket use case, with input and participation commitments from various driver projects, including the NCPI (NIH Cloud Platform Interoperability) initiative.

In this session, we will discuss and define the scope and goals of this collaborative FHH FHIR project. Our partners include Health Level Seven (HL7), Global Genomic Medicine Consortium (G2MC), the US Centers for Disease Control and Prevention (CDC) National Family Health History group, and the US National Cancer Institute. The organisations involved have tried out different representations for FHH in FHIR and are now looking to standardise. Stakeholders from these organisations, along with other interested parties, are encouraged to participate.

The outcome of the session will be a comprehensive roadmap outlining the project's objectives, milestones, and implementation strategies, including the development of an open-source FHH tool that can be used as a reference for other implementations. We will identify pilot implementations to test the proposed standards and approaches. This will lay the groundwork for a cohesive effort to standardise and enhance Family Health History data exchange, ultimately benefiting the global genomics community.