Genetics FHIR Profile Proposal

Standard Genetics Profile

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

CG

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