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