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Difference between revisions of "GeneticPedigree FHIR Profile Proposal"
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<!-- Provide a listing of the types of scenarios to be represented in the examples produced for this Profile. They should demonstrate the full scope of the Profile and allow exercising of the Profiles capabilities (full element coverage, inclusion & omission of optional elements, repeating and singleton repeating elements, etc.) --> | <!-- Provide a listing of the types of scenarios to be represented in the examples produced for this Profile. They should demonstrate the full scope of the Profile and allow exercising of the Profiles capabilities (full element coverage, inclusion & omission of optional elements, repeating and singleton repeating elements, etc.) --> | ||
| + | * Family History scenarios and example pedigrees from ''[ http://www.hl7.org/implement/standards/product_brief.cfm?product_id=301|HL7 Version 3 Implementation Guide: Family History/Pedigree Interoperability, Release 1 (US Relm)]'' | ||
* Scenarios from ''[http://www.hl7.org/implement/standards/product_brief.cfm?product_id=23|HL7 Version 2 Implementation Guide: Clinical Genomics; Fully LOINC-Qualified Genetic Variation Model (US Realm)]'' shall be added as Profile examples. | * Scenarios from ''[http://www.hl7.org/implement/standards/product_brief.cfm?product_id=23|HL7 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. | * Additional scenarios as needed based on ongoing maintenance of the Profile. | ||
Revision as of 18:27, 13 May 2014
This page documents a Pending FHIR Resource Proposal
GeneticFamilyHistory
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 (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 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 [ http://www.hl7.org/implement/standards/product_brief.cfm?product_id=301%7CHL7 Version 3 Implementation Guide: Family History/Pedigree Interoperability, Release 1 (US Relm)]
- Scenarios from 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
Contributing or Reviewing Work Groups
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
- or Ballot independently as DSTU
- or Realm specific ballot
- or No Ballot
Desired Ballot Date
- PutDesiredBallotDateHere
