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 https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

Example RiskAssessment: GenRiskDiabetesT2

Generated Narrative: RiskAssessment

ResourceRiskAssessment "GenRiskDiabetesT2"

parent: Observation/PolyGenicDiagnosticImpExample

status: final

subject: Patient/CGPatientExample01 " EVERYMAN"

basis:

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

prediction

outcome: Diabetes mellitus type 2 (disorder) (SNOWMED CT#44054006)

probability: 0.26

qualitativeRisk: Low likelihood (Risk Probability#low)

relativeRisk: 1.05

when: ?-53

prediction

outcome: Diabetes mellitus type 2 (disorder) (SNOWMED CT#44054006)

probability: 0.7

qualitativeRisk: High likelihood (Risk Probability#high)

relativeRisk: 2.69

when: ?-65