DiagnosticReportHlaResults FHIR Profile Proposal

DiagnosticReportHlaResults

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

This profile was created to attempt to satisfy the requirements for a specific use case: Reporting HLA genotyping for matching donors with patients needing stem cell transplants. In this report, multiple observations around multiple HLA genes are captured and reported in IPD-IMGT/HLA nomenclature in GL String format (Tissue Antigens. 2013 Aug;82(2):106-12. doi: 10.1111/tan.12150.). The allele assignments are reported to record full ambiguity of results, along with the lab data (including genomic sequence) supporting these assignments, and methodologies used.

Profile balloting plans

STU3

Profile Details

The DiagnosticReportHlaResults 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)

• 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 each resource.
• Query Result Examples for each 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

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