This wiki has undergone a migration to Confluence found Here
Difference between revisions of "GeneticPedigree FHIR Profile Proposal"
Jump to navigation
Jump to search
| (5 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 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 45: | Line 46: | ||
<!--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 | + | * 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 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. | ||
| Line 54: | Line 55: | ||
* 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)]'' | * 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 (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. | + | * 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 90: | 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 116: | 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
