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 DiagnosticReport: somaticReport

Genetic analysis report (Genetics)

When For2023-02-02
Identifier: Accession ID/23-0000345

Report Details

CodeValueNoteWhen ForReported
Genetic variant assessmentPresent2023-02-01
Genetic variant assessmentPresent2023-02-01
Genetic variant assessmentPresent2023-02-01
Genetic variant assessmentPresent2023-02-01
Genetic variant assessmentPresent2023-02-01
Genetic variant assessmentPresent2023-02-01
Genetic variant assessmentPresent2023-02-01
Genetic variant assessmentPresent2023-02-01
Diagnostic Implication2023-02-01
Diagnostic Implication2023-02-01
Diagnostic Implication2023-02-01
Diagnostic Implication2023-02-01
Diagnostic Implication2023-02-01
Diagnostic Implication2023-02-01
Diagnostic Implication2023-02-01
Diagnostic Implication2023-02-01
Therapeutic Implication2023-02-01
Therapeutic Implication2023-02-01
Therapeutic Implication2023-02-01
Therapeutic Implication2023-02-01
Therapeutic Implication2023-02-01
Molecular Consequence2023-02-01
Molecular Consequence2023-02-01
Molecular Consequence2023-02-01
Molecular Consequence2023-02-01
Molecular Consequence2023-02-01
Molecular Consequence2023-02-01
Molecular Consequence2023-02-01
Molecular Consequence2023-02-01
Mutations/Megabase [# Ratio] in Tumor29.82023-02-01
Microsatellite instability [Interpretation] in Cancer specimen QualitativeMSI-H2023-02-01
PD-L1 by clone 22C3 in Tissue by Immune stain ReportPositive5% tumor proportion score2023-02-01
Haplotype NameHLA-A*24:022023-02-012023-02-01 00:00:00-0500
Haplotype NameHLA-A*02:062023-02-012023-02-01 00:00:00-0500
Haplotype NameHLA-B*35:012023-02-012023-02-01 00:00:00-0500
Haplotype NameHLA-B*35:012023-02-012023-02-01 00:00:00-0500
Haplotype NameHLA-C*03:032023-02-012023-02-01 00:00:00-0500
Haplotype NameHLA-C*15:022023-02-012023-02-01 00:00:00-0500

Patient is positive for Tier 1 / Level A variants, including variants with FDA-approved indications.

Coded Conclusions :

  • Positive