Pharmacogenomics

Clinical Domain Working Groups(CDWG)


The Pharmacogenomics Working Group aims to integrate knowledge about human genetic variation to inform drug response.


Goals:

  1. Evaluate PGx genes, their impact on drugs, and provide additional annotation that supplements existing pharmacogenetic guidelines.
  2. 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.
  3. 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).
  4. Interact with other ClinGen WGs to harmonize the final contributions to the ClinGen resource.

Chairs


Coordinator


Members