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Difference between revisions of "GeneticPedigree FHIR Profile Proposal"

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(Created page with "{{subst::Template:FHIR Profile Proposal}}")
 
 
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<div style="float: left;">[[Image:OpenHotTopic.GIF|35px| ]]</div>
 
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<div style="background:#F0F0F0">
 
<div style="background:#F0F0F0">
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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]]
 
</div>
 
</div>
 
</div>
 
</div>
 
[[Category:FHIR Resource Proposal]]
 
[[Category:FHIR Resource Proposal]]
 
[[Category:FHIR Profile Proposal]]
 
[[Category:FHIR Profile Proposal]]
−
[[Category:Pending FHIR Profile Proposal]]
+
[[Category:Approved FHIR Profile Proposal]]
  
  
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=PutProposedProfileNameHere=
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=GeneticFamilyHistory=
  
 
<!-- Profile names should meet the following characteristics:
 
<!-- Profile names should meet the following characteristics:
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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.-->
−
* [[ParentResourceAddress|ResourceName]]
+
* [[FamilyMemberHistory]]
 +
* [[List]]
  
 
====Constraints to be Applied====
 
====Constraints to be Applied====
  
 
<!--Describe how the current resource will be constrained.-->
 
<!--Describe how the current resource will be constrained.-->
−
* Constraint 1
+
* ''none''
−
* Constraint 2
 
  
 
====Extensions to be Applied====
 
====Extensions to be Applied====
  
 
<!--Describe how the current resource will be extended.-->
 
<!--Describe how the current resource will be extended.-->
−
* Extension 1
+
* This profile is sufficient for support of personalized genetic medicine.
−
* Extension 2
+
* 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
 +
* Additional extensions support capture of risk analysis for quantification of genetic-based disease risk, to support full clinical workflow.
  
 
===Example Scenarios===
 
===Example Scenarios===
  
 
<!-- 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 Realm)]''
 +
* Genetic scenarios and information models from the Clinical Genomics Domain Analysis Model and Domain Information Model (''[http://www.hl7.org/Special/committees/clingenomics/index.cfm|see Clinical Genomics document repository on HL7 main site]''), as well as ''[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.
  
 
===Scope of coverage===
 
===Scope of coverage===
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As a rule, Profiles should encompass all of these aspects.
 
As a rule, Profiles should encompass all of these aspects.
 
-->
 
-->
 +
* 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==
 
==Ownership==
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<!-- The name of the committee that is proposed to have responsibility for developing and maintaining the Profiles. -->
 
<!-- The name of the committee that is proposed to have responsibility for developing and maintaining the Profiles. -->
−
[[YourCommitteeName]]
+
[[CG|Clinical Genomics]]
  
 
===Contributing or Reviewing Work Groups===
 
===Contributing or Reviewing Work Groups===
  
 
<!-- Additional work groups that may have an interest in contributing to, or reviewing  the content of the Profile (optional) -->
 
<!-- Additional work groups that may have an interest in contributing to, or reviewing  the content of the Profile (optional) -->
−
* Work Group Name
+
* [[Anatomic_Pathology_Work_Group|Anatomic Pathology]]
−
* or link
+
* [[Patient_Care_WG|Patient Care]]
−
* or "None"
+
 
  
 
===Expected implementations===
 
===Expected 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. -->
 
<!--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. -->
 +
* Intermountain Healthcare
 +
* Harvard - Partners
  
 
===gForge Users===
 
===gForge Users===
  
 
<!-- Identify the userids who will require commit access to gForge to maintain the Profile.  (Ensure all users have registered for gForge.) -->
 
<!-- Identify the userids who will require commit access to gForge to maintain the Profile.  (Ensure all users have registered for gForge.) -->
 +
* scott_bolte
 +
* TBD
  
  
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<!-- Please specify the id of your work group’s PSS for doing FHIR work.  (If submitted but not yet approved, just write “pending”.) The link to the PSS template can be found here: http://gforge.hl7.org/gf/download/docmanfileversion/6832/9398/HL7FHIR_DSTUballotPSS-20120529.doc -->
 
<!-- Please specify the id of your work group’s PSS for doing FHIR work.  (If submitted but not yet approved, just write “pending”.) The link to the PSS template can be found here: http://gforge.hl7.org/gf/download/docmanfileversion/6832/9398/HL7FHIR_DSTUballotPSS-20120529.doc -->
 +
* TBD
  
 
==Plans==
 
==Plans==
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Choose one:
 
Choose one:
 
*Ballot with next FHIR DSTU or Normative Edition
 
*Ballot with next FHIR DSTU or Normative Edition
−
*or Ballot independently as DSTU
 
−
*or Realm specific ballot
 
−
*or No Ballot
 
  
 
<!-- Indicate the desired ballot date.-->
 
<!-- Indicate the desired ballot date.-->
 
Desired Ballot Date
 
Desired Ballot Date
 
*PutDesiredBallotDateHere
 
*PutDesiredBallotDateHere

Latest revision as of 21:05, 29 July 2015

OpenHotTopic.GIF

This page documents a Approved 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 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
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