Genomics Reporting Implementation Guide
3.0.0 - STU3 International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0: STU3) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, 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)