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Learn how GA4GH helps expand responsible genomic data use to benefit human health.
Pedigree
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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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
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CATEGORY
TYPE
STATUS
Work Stream
LATEST VERSION
Product Leads
Staff Contact
Tools & Platforms
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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.
Date
Title
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27 Mar 2024
The GA4GH Pedigree team is looking for groups to pilot their standard or contribute to their model!
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Repeat
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Working meeting for the development of the GA4GH Pedigree product, including discussion of implementations and support tooling
Bi-Weekly
Thursday
20:00 UTC
1 Hour
Date
Version
N.A.
Date
Title
15 Dec 2023
14 Sep 2023
28 Apr 2023
11 Mar 2023
7 Feb 2016
Don't see your name? Get in touch:
- Michael Brudno
University Health Network - Orion Buske
PhenoTips - 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
TrakGene - 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
TrakGene - Grant Wood
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