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Difference between revisions of "GeneticPedigree FHIR Profile Proposal"
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Scott.Bolte (talk | contribs) (Created page with "{{subst::Template: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]] |
====Constraints to be Applied==== | ====Constraints to be Applied==== | ||
<!--Describe how the current resource will be constrained.--> | <!--Describe how the current resource will be constrained.--> | ||
| − | * | + | * ''none'' |
| − | |||
====Extensions to be Applied==== | ====Extensions to be Applied==== | ||
<!--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|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. |
| − | |||
===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.) --> | ||
| + | |||
| + | * Scenarios from ''[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=== | ||
| Line 64: | Line 65: | ||
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== | ||
| Line 69: | Line 74: | ||
<!-- 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. --> | ||
| − | [[ | + | [[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) --> | ||
| − | * | + | * [[Anatomic_Pathology_Work_Group|Anatomic Pathology]] |
| − | * | + | * [[Patient_Care_WG|Patient Care]] |
| − | + | ||
===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. --> | ||
| + | * TBD | ||
===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 | ||
| Line 90: | Line 98: | ||
<!-- 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== | ||
Revision as of 18:37, 12 May 2014
This page documents a Pending FHIR Resource Proposal
PutProposedProfileNameHere
Resource Details
Parent Resource
Constraints to be Applied
- none
Extensions to be Applied
- Emphasis on including mother/father relationships beyond relationship codes relative to the (a.k.a. Patient). The relationship codes are ambiguous and therefore a family history constructed exclusively with them is unsuitable for heritable trait calculations.
Example Scenarios
- Scenarios from 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
- TBD
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
- or Ballot independently as DSTU
- or Realm specific ballot
- or No Ballot
Desired Ballot Date
- PutDesiredBallotDateHere
