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Pedigree

Allows for computable exchange of family health history and representation of larger, more complex families

SummaryBenefitsTarget usersAnnouncements

The need for computable pedigree and family health history information is critical for informing genomic analysis and for calculating disease 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, the GA4GH Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream 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. Standardising 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.

Benefits

  • Seamlessly share computable pedigree and family health history information
  • Robust representation of family relationships
  • Interoperable with GA4GH Phenopackets and HL7 FHIR
  • Can be easily integrated into the wider pedigree ecosystem of tools

 

Target users

Researchers, clinicians, clinical laboratories, and developers

Announcements

Date Title
27 March 2024 Does your group or initiative work with pedigree or family health history information?
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Staff Contact
GitHub
GitHub
Community Engagement
Active Engagement
Last Approved Version
Pedigree v1.0

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