Release 5 Preview #2

This page is part of the FHIR Specification (v4.4.0: R5 Preview #2). 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

10.3.15 DiagnosticReport-Genetics

Orders and Observations Work GroupMaturity Level: N/AStandards Status: Informative

Trial-Use Note:

The material on this page is currently undergoing work to be refactored or potentially removed in a future release as further analysis is done as part of the Genomics Reporting Implementation Guide .

10.3.15.1 Content

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

10.3.15.2 Search Parameters

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