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: PGxGenomicReportEMERGE

Genetic analysis report (Genetics)

SubjectAdam B. Everyman male, DoB: 1951-01-20 ( Medical Record Number/m123 (use: usual))
When For2020-01-01 00:00:00-0500
Reported2020-01-01 00:00:00-0500

Report Details

CodeValueNoteWhen For
Therapeutic Implication2019-04-01
Therapeutic Implication2019-04-01
Therapeutic Implication2019-04-01
Therapeutic Implication2019-04-01
Therapeutic Implication2019-04-01
Therapeutic Implication2019-04-01
Genotype display nameCYP2C19*2/*22019-04-01
Genotype display nameVKORC1 rs9923231 C/T2019-04-01
Genotype display nameCYP2C9*1/*12019-04-01
Genetic variant assessmentPresent2020-01-01
Genetic variant assessmentPresent2019-04-01
Genetic variant assessmentPresent2019-04-01
Genetic variant assessmentPresent2019-04-01
Genetic variant assessmentPresent2019-04-01
Genetic variant assessmentPresent2019-04-01
Genetic variant assessmentPresent2019-04-01
Genetic variant assessmentPresent2019-04-01
Genetic variant assessmentPresentThis variant was confirmed with SANGER sequencing2019-04-01
Genetic variant assessmentPresentThis variant was confirmed with SANGER sequencing2019-04-01
Genetic variant assessmentPresentThis variant was confirmed with SANGER sequencing2019-04-01

Based on the genotype result, this patient is predicted to have a CYP2C19 poor metabolizer phenotype. This genotype information can be used by patients and clinicians as part of the shared decision-making process for several drugs metabolized by CYP2C19 including clopidogrel, voriconazole, amitriptyline, citalopram and escitalopram.

Coded Conclusions :

  • Positive