DiagnosticReportGenetics FHIR Profile Proposal

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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)

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

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