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Resource Details

Parent Resource

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 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.

Example Scenarios

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

Clinical Genomics

Contributing or Reviewing Work Groups

Expected implementations

  • Intermountain Healthcare
  • Harvard - Partners

gForge Users

  • scott_bolte
  • TBD

FHIR Profile Development Project Insight ID

  • TBD



  • TargetDateForInternalReview

Balloting Requirements

Choose one:

  • Ballot with next FHIR DSTU or Normative Edition

Desired Ballot Date

  • PutDesiredBallotDateHere