Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot 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 3.0.1-SNAPSHOT built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of and changes regularly. See the Directory of published versions

Example RiskAssessment: GenRiskDiabetesT2

Generated Narrative: RiskAssessment GenRiskDiabetesT2

parent: Observation Diagnostic Implication

status: Final

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


  • Variant 1 (Identifier:
  • Variant 2 (Identifier:
  • Variant 3 (Identifier:
  • Variant 4 (Identifier:
  • Variant 5 (Identifier:
  • Variant 6 (Identifier:
  • Variant 7 (Identifier:


outcome: Diabetes mellitus type 2 (disorder)

probability: 0.26

qualitativeRisk: Low likelihood

relativeRisk: 1.05

when: ?-53


outcome: Diabetes mellitus type 2 (disorder)

probability: 0.7

qualitativeRisk: High likelihood

relativeRisk: 2.69

when: ?-65