FHIR Release 3 (STU) 4

This page is part of the FHIR Specification (v3.0.2: (v4.0.1: R4 - Mixed Normative and STU 3). ) in it's permanent home (it will always be available at this URL). The current version which supercedes this version is 5.0.0 . For a full list of available versions, see the Directory of published versions . Page versions: R4 R3 R4 R3

(No assigned work group) Orders and Observations Work Group Maturity Level : N/A Ballot Standards Status : Informative
10.2.15.1 Overview

Trial-Use Note:

The DiagnosticReport-genetics profile extends the DiagnosticReport resource to enable reporting of structured genetic test results by referring to Observation-genetics 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. For use cases, details material on how this resource interact with other Clinical Genomics resources or profiles, please refer page is currently undergoing work to implementation guidance document here . 10.2.15.2 Scope and Usage The DiagnosticReport-genetics 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, refactored or potentially removed in a condition may be used future release as an input into the analytic pipeline to aid in the identification further analysis is done as part 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. Here Reporting Implementation Guide is the document of HL7 Version 3 Domain Analysis Model where the examples used in genetics profile are from (Page 5). .

Profiles :
HLAResult Describes how the HLA genotyping results
Extensions :
hla-genotyping-results-allele-database allele-database :

Allele Database.

hla-genotyping-results-glstring glstring :

glstring.

hla-genotyping-results-haploid haploid :

haploid.

hla-genotyping-results-method method :

The platform, methodology and software applied at the time of the genotyping.

Examples :
HLA genotyping

An example of a HLA genotyping results report