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| − | <div style="float: left;">[[Image:OpenHotTopic.GIF|35px| ]]</div> | + | Current version: https://confluence.hl7.org/display/FHIR/Genetics+FHIR+Profile+Proposal<div style="float: left;">[[Image:OpenHotTopic.GIF|35px| ]]</div> |
<div style="background:#F0F0F0"> | <div style="background:#F0F0F0"> | ||
This page documents a [[:category:Pending FHIR Resource Proposal|Pending]] [[:category:FHIR Resource Proposal|FHIR Resource Proposal]] | This page documents a [[:category:Pending FHIR Resource Proposal|Pending]] [[:category:FHIR Resource Proposal|FHIR Resource 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.--> | ||
| − | * [[http://hl7-fhir.github.io/ | + | *[[http://hl7-fhir.github.io/diagnosticreport.html|Observation]] DiagnosticReport |
====Constraints to be Applied==== | ====Constraints to be Applied==== | ||
| Line 47: | Line 47: | ||
<!--Describe how the current resource will be extended.--> | <!--Describe how the current resource will be extended.--> | ||
| − | + | *AssessedCondition | |
| − | * AssessedCondition | + | *FamilyMemberHistory |
| − | * FamilyMemberHistory | + | *Analysis |
| − | * | ||
===Example Scenarios=== | ===Example Scenarios=== | ||
| − | * Genetics Test Result Reporting | + | *Genetics Test Result Reporting |
| − | * Public Health Reporting | + | *Public Health Reporting |
| − | * Clinical and Research Data Warehouses | + | *Clinical and Research Data Warehouses |
| − | * Genetics Results with Family History | + | *Genetics Results with Family History |
| − | * Gene Analysis Panel | + | *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.) --> | ||
| Line 64: | Line 63: | ||
===Scope of coverage=== | ===Scope of coverage=== | ||
| − | The Standard Genetics Profile extends the | + | The Standard Genetics Profile extends the DiagnosticReport resource to enable reporting of structured genetic test results. It 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 Condition resource. |
| − | This profile supports reporting of | + | This profile supports reporting of 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. | 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. | ||
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<!-- 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.) --> | ||
| − | |||
===FHIR Profile Development Project Insight ID=== | ===FHIR Profile Development Project Insight ID=== | ||
| Line 108: | Line 106: | ||
Choose one: | Choose one: | ||
| + | |||
*Ballot with next FHIR DSTU or Normative Edition | *Ballot with next FHIR DSTU or Normative Edition | ||
*or Ballot independently as DSTU | *or Ballot independently as DSTU | ||
| Line 115: | Line 114: | ||
<!-- Indicate the desired ballot date.--> | <!-- Indicate the desired ballot date.--> | ||
Desired Ballot Date | Desired Ballot Date | ||
| + | |||
*PutDesiredBallotDateHere | *PutDesiredBallotDateHere | ||
Latest revision as of 16:15, 31 October 2019
Current version: https://confluence.hl7.org/display/FHIR/Genetics+FHIR+Profile+Proposal
This page documents a Pending FHIR Resource Proposal
Contents
Standard Genetics Profile
Profile balloting plans
Profile Details
Profiled Resource(s)
- [[1]] DiagnosticReport
Constraints to be Applied
None
Extensions to be Applied
- AssessedCondition
- FamilyMemberHistory
- Analysis
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 DiagnosticReport resource to enable reporting of structured genetic test results. It 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 Condition resource.
This profile supports reporting of 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
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
