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:
DiagnosticReport-GeneticsDescribes how the DiagnosticReport resource is used to report structured genetic test results
Extensions:
DiagnosticReport-geneticsAssessedConditionAssessedCondition :

Used to denote condition context for genetic testing, which may influence reported variants and interpretation for large genomic testing panels e.g. lung cancer or familial breast cancer.

DiagnosticReport-geneticsFamilyMemberHistoryFamilyMemberHistory :

Significant health events and conditions for a person related to the patient relevant in the context of care for the patient.

DiagnosticReport-geneticsAnalysisAnalysis :

Knowledge-based comments on the effect of the sequence on patient's condition/medication reaction.

DiagnosticReport-geneticsReferencesReferences :

Additional bibliographic reference information about genetics, medications, clinical trials, etc associated with knowledge-based information on genetics/genetic condition.

Examples:
Genetics -with family

An example of a genetics test report with Family member history

Comprehensive report

An example of a comprehensive bone marrow report

PGx Example

An example of a PGx haplotype report

Search parameters defined by this package. See Searching for more information about searching in REST, messaging, and services.

NameTypeDescriptionPathsSource
assessed-conditionreferenceCondition assessed by genetic testXML / JSON