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

CodeSystem: PharmGKB Evidence Level Example Codes

Official URL: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/pharmgkb-evidence-level-custom-cs Version: 3.0.1-SNAPSHOT
Active as of 2024-04-09 Computable Name: PharmGKBEvidenceLevelCustomCS

PharmGKB contains examples of evidence level concepts that are not conflated with clinical significance. These can be found on PharmGKB https://www.pharmgkb.org/page/clinAnnLevels. These examples are informational only, for copyright information contact the relevant source.

This Code system is referenced in the content logical definition of the following value sets:

This case-sensitive code system http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/pharmgkb-evidence-level-custom-cs defines the following codes:

CodeDisplayDefinition
1A PGKB 1A High level of evidence. Supported by a guideline or FDA label with variant specific prescribing guidance. Additionally, supported by at least one publication.
1B PGKB 1B High level of evidence. But, NOT supported by a guideline or FDA label with variant specific prescribing guidance. Additionally, supported by at least one publication.
2A PGKB 2A Moderate level of evidence. Supported by being a KNOWN pharmacogene on https://www.pharmgkb.org/vips. Also, found in multiple studies but may have a minority of studies that did not support the majority opinion. Supported by at least two indpendent publications.
2B PGKB 2B Moderate level of evidence. NOT in the list of very important, KNOWN pharmacogenes. Found in multiple studies but may have a minority of studies that did not support the majority opinion. Supported by at least two indpendent publications.
3 PGKB 3 Low-level of evidence. Where either the assocation is based on a single study, failed to be reproduced, or preliminary evidence.
4 PGKB 4 The evidence does not support an association between the variant and the drug phenotype. (negative)