As part of a multi-year effort engaging stakeholders from national genomic initiatives, clinical programs, and industry partners, the Global Alliance for Genomics and Health (GA4GH) is developing a new standard for the representation of pedigree and family health history information.
Pedigree data is currently represented in multiple formats that prevent full interoperability. Then there are lowest-common-denominator formats like PED, which are often limited in the representation of more complex families. The need for high-quality, unambiguous, and computable pedigree and family health history information is critical for informing genomic analysis and diagnosis, and for sharing this information more easily between healthcare systems. Planning for publication this year, the GA4GH Pedigree Standard offers an updated data model, intended to fit within the structure of other standards like HL7 FHIR and Phenopackets. For the technically inclined, the documentation and associated tools can be viewed here.
Comments on the standard or questions about GA4GH are welcome by emailing Lindsay.smith@ga4gh.