GeneticPedigree FHIR Profile Proposal

GeneticFamilyHistory

Resource Details

Parent Resource

• GeneticPedigree

Constraints to be Applied

• none

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 (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.

Example Scenarios

• 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

Ownership

Owning committee name

Clinical Genomics

Contributing or Reviewing Work Groups

• Anatomic Pathology
• Patient Care

Expected implementations

• TBD

gForge Users

• scott_bolte
• TBD

FHIR Profile Development Project Insight ID

• TBD

Plans

Timelines

• TargetDateForInternalReview

Balloting Requirements

Choose one:

• Ballot with next FHIR DSTU or Normative Edition

Desired Ballot Date

• PutDesiredBallotDateHere