Genomics Reporting Implementation Guide
3.0.0 - STU3 International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

Example Observation: PolyGenicDiagnosticImpExample

Generated Narrative: Observation PolyGenicDiagnosticImpExample

Genomic Risk Assessment: Polygenic Risk Score

status: Final

category: Laboratory, Genetics

code: Diagnostic Implication

subject: Adam B. Everyman Male, DoB: 1951-01-20 ( Medical Record Number: m123 (use: usual, ))

effective: 2019-04-01

performer: Organization some lab

derivedFrom:

  • Variant 1 (Identifier: http://hospital.example.org/11)
  • Variant 2 (Identifier: http://hospital.example.org/12)

component

code: Genetic variation clinical significance [Imp]

value: Pathogenic

component

code: Associated phenotype

value: Diabetes mellitus type 2 (disorder)