GeneticPedigree FHIR Profile Proposal
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- 1 GeneticFamilyHistory
- 1.1 Resource Details
- 1.2 Ownership
- 1.3 Plans
Constraints to be Applied
Extensions to be Applied
- This profile is sufficient for support of personalized genetic medicine.
- Emphasis on including mother/father relationships beyond relationship codes relative to the proband (a.k.a. Patient). The relationship codes are ambiguous and therefore a family history constructed exclusively with them is unsuitable for heritable trait calculations.
- Extensions are backward with the v3 Pedigree/Family History standard and the US Realm implementation guide
- Additional extensions support capture of risk analysis for quantification of genetic-based disease risk, to support full clinical workflow.
- Family History scenarios and example pedigrees from Version 3 Implementation Guide: Family History/Pedigree Interoperability, Release 1 (US Realm)
- Genetic scenarios and information models from the Clinical Genomics Domain Analysis Model and Domain Information Model (Clinical Genomics document repository on HL7 main site), as well as Version 2 Implementation Guide: Clinical Genomics; Fully LOINC-Qualified Genetic Variation Model (US Realm) shall be added as Profile examples.
- Additional scenarios as needed based on ongoing maintenance of the Profile.
Scope of coverage
- Subject: human subjects only. Should support risk analysis for the presenting patient -- the proband -- as well as enumerated relatives.
- Disciplines: heritable disease & syndrome risk assessments (e.g., BRCA II carrier risk assessments).
- Delivery environment: no known constraints
- locale: no known constraints
Owning committee name
Contributing or Reviewing Work Groups
- Intermountain Healthcare
- Harvard - Partners
FHIR Profile Development Project Insight ID
- Ballot with next FHIR DSTU or Normative Edition
Desired Ballot Date