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 Observation: EGFR-L858R-therapuDrug1

Generated Narrative: Observation EGFR-L858R-therapuDrug1

status: Final

category: Laboratory, Genetics

code: Therapeutic Implication

subject: Substance Junior Hamsburg (official) Male, DoB: 1987-09-01 ( Medical record number: 1234567 (use: temp, period: 2021-01-01 --> (ongoing)))

effective: 2023-02-01

performer: Practitioner Test Dolin

derivedFrom: Observation Genetic variant assessment

component

code: Therapeutic Implication

value: Responsive

component

Related Artifact for Observation component: No display for RelatedArtifact (type: citation; url: https://www.jmdjournal.org/cms/attachment/ee43a71b-81de-4cb3-ac5e-2fb9a7d41491/gr2.jpg)

code: Level of evidence

value: Tier I - Level A

component

code: Associated phenotype

value: Non-small cell lung cancer

component

Related Artifact for Observation component: No display for RelatedArtifact (type: citation; url: https://www.cancer.net/cancer-types/lung-cancer-non-small-cell/types-treatment)

code: Medication assessed

value: Gefitinib

component

Related Artifact for Observation component: No display for RelatedArtifact (type: citation; url: https://civicdb.org/evidence/2994/summary)

code: Conclusion Text

value: Non-small cell lung cancer with EGFR L858R mutation is sensitive to gefitinib