Genomics Reporting Implementation Guide
2.0.0 - trial-use

This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

CodeSystem: PharmGKB Evidence Level Example Codes

Summary

Defining URL:http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/pharmgkb-evidence-level-custom-cs
Version:2.0.0
Name:PharmGKBEvidenceLevelCustomCS
Title:PharmGKB Evidence Level Example Codes
Status:Active as of 2022-05-09 04:53:07+0000
Definition:

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.

Publisher:HL7 Clinical Genomics Working Group
Content:Complete: All the concepts defined by the code system are included in the code system resource
Source Resource:XML / JSON / Turtle

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

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

CodeDisplayDefinition
1A PGKB 1AHigh level of evidence. Supported by a guideline or FDA label with variant specific prescribing guidance. Additionally, supported by at least one publication.
1B PGKB 1BHigh 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 2AModerate 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 2BModerate 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 3Low-level of evidence. Where either the assocation is based on a single study, failed to be reproduced, or preliminary evidence.
4 PGKB 4The evidence does not support an association between the variant and the drug phenotype. (negative)