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Difference between revisions of "GeneticPedigree FHIR Profile Proposal"

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This page documents a [[:category:Pending FHIR Resource Proposal|Pending]] [[:category:FHIR Resource Proposal|FHIR Resource Proposal]]
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This page documents a [[:category:Approved FHIR Resource Proposal|Approved]] [[:category:FHIR Resource Proposal|FHIR Resource Proposal]]
 
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[[Category:FHIR Resource Proposal]]
 
[[Category:FHIR Resource Proposal]]
 
[[Category:FHIR Profile Proposal]]
 
[[Category:FHIR Profile Proposal]]
[[Category:Pending FHIR Profile Proposal]]
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[[Category:Approved FHIR Profile Proposal]]
  
  
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<!--Put a link to the resource/datatype (or group of resources) that will be profiled here.-->
 
<!--Put a link to the resource/datatype (or group of resources) that will be profiled here.-->
* [[FamilyHistory|GeneticPedigree]]
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* [[FamilyMemberHistory]]
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* [[List]]
  
 
====Constraints to be Applied====
 
====Constraints to be Applied====
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<!--Describe how the current resource will be extended.-->
 
<!--Describe how the current resource will be extended.-->
 
* This profile is sufficient for support of personalized genetic medicine.
 
* This profile is sufficient for support of personalized genetic medicine.
* Emphasis on including mother/father relationships beyond relationship codes relative to the [http://en.wikipedia.org/wiki/Proband|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.
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* Emphasis on including mother/father relationships beyond relationship codes relative to the proband [http://en.wikipedia.org/wiki/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
 
* 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.
 
* Additional extensions support capture of risk analysis for quantification of genetic-based disease risk, to support full clinical workflow.
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<!--Key Profiles are justified by CCDA, for Profiles not deemed "key", what interest is there by implementers in using this particular Profile. Provide named implementations if possible - ideally provide multiple independent implementations. -->
 
<!--Key Profiles are justified by CCDA, for Profiles not deemed "key", what interest is there by implementers in using this particular Profile. Provide named implementations if possible - ideally provide multiple independent implementations. -->
* TBD
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* Intermountain Healthcare
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* Harvard - Partners
  
 
===gForge Users===
 
===gForge Users===

Latest revision as of 21:05, 29 July 2015



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 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

Ownership

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

Plans

Timelines

  • TargetDateForInternalReview

Balloting Requirements

Choose one:

  • Ballot with next FHIR DSTU or Normative Edition

Desired Ballot Date

  • PutDesiredBallotDateHere