The Pharmacogenomics Working Group aims to integrate knowledge about human genetic variation to inform drug response.
- Evaluate PGx genes, their impact on drugs, and provide additional annotation that supplements existing pharmacogenetic guidelines.
- Develop systematic methods for representing and depositing knowledge from the Pharmacogenomics (PGx) Working Group, Clinical Pharmacogenetics Implementation Consortium (CPIC) and PharmGKB into ClinGen and ClinVar on a regular schedule.
- Participate in discussions on the reconciliation of disparate nomenclatures in pharmacogenetics, including:
- Build working relationships with CPIC to develop standardized terminology for functional status and allele definitions, and, engage genetic testing laboratories to consistently apply these standardized definitions.
- Work with the American College of Medical Genetics and Genomics (ACMG) to develop a nomenclature appropriate for PGx variants similar to that of disease variants for pathogenicity.
- Support the development with the Center for Disease Control (CDC) Nomenclature group for standards for PGx assays such that it is clear what is being tested on a specific gene (e.g., CYP2D6 star system means what actual SNPs were tested).
- Interact with other ClinGen WGs to harmonize the final contributions to the ClinGen resource.