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

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.

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  • 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

Community resources

Dive deeper into this product! In order to scale genomic analysis of larger, more complex families, it is crucial to develop high quality, unambiguous, and computable family information systems. Currently in development, the new Pedigree standard will enable the sharing of clinical and family history information across different systems, the ability to connect multiple individuals within the same pedigree, and robust representation of  relationships — all necessary for activities such as counselling, risk assessment, and diagnosis.




27 Mar 2024
The GA4GH Pedigree team is looking for groups to pilot their standard or contribute to their model!







Working meeting for the development of the GA4GH Pedigree product, including discussion of implementations and support tooling

20:00 UTC
1 Hour



Don't see your name? Get in touch:

  • Michael Brudno
    University Health Network
  • Orion Buske
  • Megan Doerr
    Sage Bionetworks
  • Bingjian Feng
    University of Utah
  • Melissa Haendel
    University of Colorado Anschutz Medical Campus
  • Allison Heath
    Children's Hospital of Philadelphia
  • Arthur Hermann
    Kaiser Permanente
  • Tim Jackson
  • Guida Landoure
    University of Sciences, Techniques and Technologies of Bamako (USTTB)
  • Zane Lombard
    University of the Witwatersrand, National Health Laboratory Service
  • Mamana Mbiyavanga
    University of Cape Town
  • Monica Munoz-Torres
    University of Colorado Anschutz Medical Campus
  • Soichi Ogishima
    Tohoku University Tohoku, Medical Megabank Organization
  • Augusto Rendon
    Genomics England
  • Amanda Spurdle
    QIMR Berghofer Medical Research Institute
  • Zornitza Stark
    Australian Genomics
  • Kathryn Van Diemen
  • Grant Wood

News, events, and more

Catch up with all news and articles associated with Pedigree.

8 Jul 2021
GA4GH standards in a global learning health system
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19 Mar 2021
Pedigree Connectathon: testing interoperability across the research-healthcare continuum
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