The GA4GH Pedigree Standard allows for the computable exchange of family health history as well as representation of larger, more complex families. The collection of specific clinical or genetic data is outside the scope of this deliverable, and would instead be handled by other formats and references to individuals within the pedigree representation. Standardizing the way systems represent family structure will allow patients to share this information more easily between healthcare systems and help software tools use this information to improve genome analysis and diagnosis.
This has been developed as part of the GA4GH Clinical Phenotype Data Capture Workstream.
The core documentation can be found at https://pedigree.readthedocs.io/. Links of Interest:
- Use case collection
- Conceptual model
- Common dataset
- Draft FHIR IG
- KIN Ontology
- Pedigree Tools
- Pedigree Validator
- Meeting Minutes
The model uses semantic versioning. See https://semver.org for details.
The GA4GH Pedigree Subgroup has a Google Group/mailing list for those interested in contributing to development of the stadard or following akong with progress. Please reach out to lindsay.smith@ga4gh.org for more information.