This wiki has undergone a migration to Confluence found Here
Difference between revisions of "GeneticPedigree FHIR Profile Proposal"
Jump to navigation
Jump to search
Scott.Bolte (talk | contribs) |
|||
| (10 intermediate revisions by 3 users not shown) | |||
| Line 3: | Line 3: | ||
<div style="float: left;">[[Image:OpenHotTopic.GIF|35px| ]]</div> | <div style="float: left;">[[Image:OpenHotTopic.GIF|35px| ]]</div> | ||
<div style="background:#F0F0F0"> | <div style="background:#F0F0F0"> | ||
| − | This page documents a [[:category: | + | 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: | + | [[Category:Approved FHIR Profile Proposal]] |
| Line 14: | Line 14: | ||
| − | = | + | =GeneticFamilyHistory= |
<!-- Profile names should meet the following characteristics: | <!-- Profile names should meet the following characteristics: | ||
| Line 34: | Line 34: | ||
<!--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.--> | ||
| − | * [[ | + | * [[FamilyMemberHistory]] |
| + | * [[List]] | ||
====Constraints to be Applied==== | ====Constraints to be Applied==== | ||
| Line 44: | Line 45: | ||
<!--Describe how the current resource will be extended.--> | <!--Describe how the current resource will be extended.--> | ||
| − | * Emphasis on including mother/father relationships beyond relationship codes relative to the [http://en.wikipedia.org/wiki/Proband | + | * 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=== | ===Example Scenarios=== | ||
| Line 50: | Line 54: | ||
<!-- 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. | * Additional scenarios as needed based on ongoing maintenance of the Profile. | ||
| Line 86: | Line 91: | ||
<!--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=== | ||
| Line 112: | Line 118: | ||
Choose one: | Choose one: | ||
*Ballot with next FHIR DSTU or Normative Edition | *Ballot with next FHIR DSTU or Normative Edition | ||
| − | |||
| − | |||
| − | |||
<!-- 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
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
- Family History scenarios and example pedigrees from 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 (Clinical Genomics document repository on HL7 main site), as well as 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
- 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
