View source for DiagnosticReportGenetics FHIR Profile Proposal


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This page documents a [[:category:Pending FHIR Resource Proposal|Pending]] [[:category:FHIR Resource Proposal|FHIR Resource Proposal]]
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[[Category:FHIR Resource Proposal]]
[[Category:FHIR Profile Proposal]]
[[Category:Pending FHIR Profile Proposal]]


<!-- For additional guidance on considerations for profile creation, refer to [[FHIR Profile Considerations]] -->


=DiagnosticReportGenetics=

The DiagnosticReportGenetics profile extends the DiagnosticReport resource to enable reporting of structured genetic test results by referring to the ObservationGenetics profile. 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 Condition resource.

==Profile balloting plans==

STU3

==Profile Details==

The DiagnosticReportGenetics 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.

===Profiled Resource(s)===

* [http://hl7-fhir.github.io/diagnosticreport.html DiagnosticReport]

====Constraints to be Applied====

The following constraints are applied to the DiagnosticReport resource as necessary:
* Constrain the cardinality of the data elements within the resource.
* Constrain the mustSupport attribute of the data elements within the resource.
* Define searchParameters as necessary for the resource.
* Constrain vocabularies for the resources as applicable.

====Extensions to be Applied====

The following extensions are applied to the DiagnosticReport resource as appropriate:
* Clinical genomics specific extensions.

===Example Scenarios===

* Query Examples for DiagnosticReport resource.
* Query Result Examples for DiagnosticReport resource.

===Scope of coverage===

* Subject: patient
* Disciplines: Patient Care, Clinical Research, Public Health
* Delivery Environment: Inpatient, Ambulatory, Community, Emergency, etc.

===Realm===
Clinical genomics.

==Ownership==
===Owning committee name===

[[Clinical Genomics]]

===Contributing or Reviewing Work Groups===

* None

===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. -->

===gForge Users===

* Gil Alterovitz
* Gaston Fiore

===FHIR Profile Development Project Insight ID===

1110

==Plans==
===Timelines===

*July 2016

===Balloting Requirements===

*Ballot with next FHIR DSTU or Normative Edition

Desired Ballot Date
*End 2016