Current Build
(No assigned work group)Maturity Level: N/ABallot Status: Informative

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 on how this resource interact with other Clinical Genomics resources or profiles, please refer to implementation guidance document here .

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, 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.

Here is the document of HL7 Version 3 Domain Analysis Model where the examples used in genetics profile are from (Page 5).

Profiles:
HLAResultDescribes how the HLA genotyping results
Extensions:
hla-genotyping-results-allele-databaseallele-database :

Allele Database.

hla-genotyping-results-glstringglstring :

glstring.

hla-genotyping-results-haploidhaploid :

haploid.

hla-genotyping-results-methodmethod :

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

Examples:
HLA genotyping

An example of a HLA genotyping results report