View source for 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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[[Category:FHIR Resource Proposal]]
[[Category:FHIR Profile Proposal]]
[[Category:Pending FHIR Profile Proposal]]


<!-- For additional guidance on considerations for profile creation, refer to [[FHIR Profile Considerations]] -->


=GeneticFamilyHistory=

<!-- Profile names should meet the following characteristics:
* Lower camel case
* U.S. English
* Domain-friendly
* Short
* Clear
* Unique
* Avoid non-universal abbreviations (e.g. URL would be ok)
* Be expressed as a noun
* Be consistent with other similar Profiles
* Incorporate the name of the Resource being profiled
-->

==Resource Details==

===Parent Resource===

<!--Put a link to the resource/datatype (or group of resources) that will be profiled here.-->
* [[FamilyMemberHistory]]
* [[List]]

====Constraints to be Applied====

<!--Describe how the current resource will be constrained.-->
* ''none''

====Extensions to be Applied====

<!--Describe how the current resource will be extended.-->
* This profile is sufficient for support of personalized genetic medicine.
* 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===

<!-- 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===

<!-- Define the full scope of coverage for the Profile.  The scope must be clearly delineated such that it does not overlap with any other existing or expected Profile.  The scope will be used to govern "what is the set of potential applications to consider when evaluating what elements are 'core' – i.e. in the 80%"

Scope should consider numerous aspects of breadth of scope, including:
* Subject: Human vs. non-human vs. non-patient (e.g. lab bench medicine)
* Disciplines: Environmental Health, Palliative, Respiratory, Psychology, Maternity, Clinical Research
* Delivery environment (Community, Geriatric, Home care, Emergency, Inpatient, Intensive, Neonatal, Pediatric, Primary)
* Locale: Country, region

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==
===Owning committee name===

<!-- The name of the committee that is proposed to have responsibility for developing and maintaining the Profiles. -->
[[CG|Clinical Genomics]]

===Contributing or Reviewing Work Groups===

<!-- Additional work groups that may have an interest in contributing to, or reviewing  the content of the Profile (optional) -->
* [[Anatomic_Pathology_Work_Group|Anatomic Pathology]]
* [[Patient_Care_WG|Patient Care]]


===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. -->
* Intermountain Healthcare
* Harvard - Partners

===gForge Users===

<!-- Identify the userids who will require commit access to gForge to maintain the Profile.  (Ensure all users have registered for gForge.) -->
* scott_bolte
* TBD


===FHIR Profile Development Project Insight ID===

<!-- 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==
===Timelines===

<!-- Indicate the target date for having the Profile complete from a committee perspective and ready for vetting and voting -->
*TargetDateForInternalReview

===Balloting Requirements===

<!-- Indicate the intended method of balloting by choosing one of the options below, or propose alternative.  If Realm Specific or No Ballot indicate the amount of informal review required by the FHIR community.-->

Choose one:
*Ballot with next FHIR DSTU or Normative Edition

<!-- Indicate the desired ballot date.-->
Desired Ballot Date
*PutDesiredBallotDateHere