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Difference between revisions of "Genetics FHIR Profile Proposal"

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(Created page with "{{subst::Template:FHIR Profile Proposal}}")
 
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=PutProposedProfileNameHere=
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=Standard Genetics Profile=
  
 
<!-- 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.-->
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* [[ParentResourceAddress|ResourceName]]
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* [[http://hl7-fhir.github.io/observation.html|Observation]] Observation
  
 
====Constraints to be Applied====
 
====Constraints to be Applied====
  
 
<!--Describe how the current resource will be constrained.-->
 
<!--Describe how the current resource will be constrained.-->
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* Constraint 1
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None
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* 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.-->
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* Extension 1
+
* Sequence
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* Extension 2
+
* AssessedCondition
 +
* FamilyMemberHistory
 +
* DiagnosticReport
  
 
===Example Scenarios===
 
===Example Scenarios===
 +
 +
* Genetics Test Result Reporting
 +
* Public Health Reporting
 +
* Clinical and Research Data Warehouses
 +
* Genetics Results with Family History
 +
* Gene Analysis Panel
  
 
<!-- 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.) -->
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===Scope of coverage===
 
===Scope of coverage===
  
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<!-- 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%"
+
The Standard Genetics Profile extends the Observation resource to enable reporting of structured genetic test results by referring to Sequence resource. In addition, the genetics profile denotes condition context for genetic testing, which may influence reported variants and interpretation for large genomic testing panels and provides references to the FamilyMemberHistory resource, the DiagnosticReport resource. The Card. of the extension - variant (reference to sequence-genetics variant) in the Standard genetics profile is 0...* which makes it convenient and flexible to support genetic test results containing a list of gene mutations or variants.
  
−
Scope should consider numerous aspects of breadth of scope, including:
+
This profile supports reporting of DNA variants at the genomic, cDNA, and protein change level. In addition, a condition context may be provided, as AssessedCondition. For large genomic tests, a condition may be used as an input into the analytic pipeline to aid in the identification of clinically relevant variants related to the test order.
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* 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.
+
Hl7 Clinical Genomics Work Group emphasizes the importance of transmitting structured genetic findings within the clinical, translational, and research environments fully integrated with other clinical data, in order to drive outcomes analysis, operational decision making, discovery research, and public health reporting.
−
-->
 
  
−
===Realm===
 
−
Please describe the realm to which this profile applies, or indicate that it is realm neutral.
 
  
 
==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. -->
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[[YourCommitteeName]]
+
[[CG]]
  
 
===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
 
* Work Group Name
 
* or link
 
* or link
 
* or "None"
 
* or "None"
−
 
+
-->
 
===Expected implementations===
 
===Expected implementations===
  

Revision as of 06:59, 5 October 2015

OpenHotTopic.GIF

This page documents a Pending FHIR Resource Proposal



Standard Genetics Profile

Profile balloting plans

Profile Details

Profiled Resource(s)

  • [[1]] Observation

Constraints to be Applied

None

Extensions to be Applied

  • Sequence
  • AssessedCondition
  • FamilyMemberHistory
  • DiagnosticReport

Example Scenarios

  • Genetics Test Result Reporting
  • Public Health Reporting
  • Clinical and Research Data Warehouses
  • Genetics Results with Family History
  • Gene Analysis Panel


Scope of coverage

The Standard Genetics Profile extends the Observation resource to enable reporting of structured genetic test results by referring to Sequence resource. In addition, the genetics profile denotes condition context for genetic testing, which may influence reported variants and interpretation for large genomic testing panels and provides references to the FamilyMemberHistory resource, the DiagnosticReport resource. The Card. of the extension - variant (reference to sequence-genetics variant) in the Standard genetics profile is 0...* which makes it convenient and flexible to support genetic test results containing a list of gene mutations or variants.

This profile supports reporting of DNA variants at the genomic, cDNA, and protein change level. In addition, a condition context may be provided, as AssessedCondition. For large genomic tests, a condition may be used as an input into the analytic pipeline to aid in the identification of clinically relevant variants related to the test order.

Hl7 Clinical Genomics Work Group emphasizes the importance of transmitting structured genetic findings within the clinical, translational, and research environments fully integrated with other clinical data, in order to drive outcomes analysis, operational decision making, discovery research, and public health reporting.


Ownership

Owning committee name

CG

Contributing or Reviewing Work Groups

Expected implementations

gForge Users

FHIR Profile Development Project Insight ID

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
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