19 March 2021
The GA4GH Clinical and Phenotypic Data Capture Work Stream will host a connectathon on April 1, 19:00 UTC to focus on interoperability of its Pedigree specification with the GA4GH Phenopackets v1.1 standard and HL7 FHIR. This hands-on session aims to bring together the technical development community to share knowledge, learnings, and approaches to implementing computable pedigree information across the research-healthcare continuum.
The need for computable pedigree and family health history information is critical for informing genomic analysis and for calculating risk to family members. Currently, pedigree data is represented by a variety of formats—which are often limited in the representation of more complex families. To address this challenge, GA4GH is developing a new pedigree standard that allows for the computable exchange of family health history as well as representation of larger, more complex families. Standardizing the way systems represent pedigree information will allow patients, care providers, and researchers to share this information more easily between healthcare systems and enable software tools to use this information to improve genome analysis and diagnosis. Input from the broader community and interoperability with other healthcare standards, such as HL7 FHIR, are key priorities.
The Pedigree Connectathon kicks off a larger series of workshops hosted by the Genomics in Health Implementation Forum (GHIF), aimed at facilitating the implementation of GA4GH standards. To learn more about future webinars, including the upcoming DUO Workshop and VRS Webinar, visit here.