Current Build
Orders and Observations Work GroupMaturity Level: N/ABallot Status: Informative

This profile is slated for deprecation. It is included in this ballot for comparison purposes but is not expected to be included in the FHIR R4 published specification. This material is being refactored into an Implementation Guide (IG) for clinical genomics reporting, which can be found here .

DiagnosticReport-GeneticsDescribes how the DiagnosticReport resource is used to report structured genetic test results
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.

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.

assessed-conditionreferenceCondition assessed by genetic testXML / JSON