PharmGKB

The PharmGKB is a pharmacogenomics knowledge resource that encompasses clinical information including dosing guidelines and drug labels, potentially clinically actionable gene-drug associations and genotype-phenotype relationships. PharmGKB collects, curates and disseminates knowledge about the impact of human genetic variation on drug responses through the following activities:

  • Annotate genetic variants and gene-drug-disease relationships via literature reviews
  • Summarize important pharmacogenomic genes, associations between genetic variants and drugs, and drug pathways
  • Curate FDA drug labels containing pharmacogenomic information
  • Enable consortia examining important questions in pharmacogenomics
  • Curate and participate in writing pharmacogenomic-based drug dosing guidelines
  • Contribute to clinical implementation projects for pharmacogenomics through collaborations
  • Publish pharmacogenomic-based drug dosing guidelines, very important pharmacogene summaries and drug-centered pathways

The Clinical Pharmacogenetics Implementation Consortium (CPIC)

Formed as a shared project between PharmGKB and the Pharmacogenomics Research Network (PGRN). CPIC guidelines are peer-reviewed and published in a leading journal (in partnership with Clinical Pharmacology and Therapeutics) with simultaneous posting to PharmGKB with supplemental information/data and updates. Anyone with clinical interests in pharmacogenetics is eligible for membership. CPIC’s goal is to address some of the barriers to implementation of pharmacogenetic tests into clinical practice.

 

Background:  One barrier to clinical implementation of pharmacogenetics is the lack of freely available, peer-reviewed, updatable, and detailed gene/drug clinical practice guidelines. CPIC provides guidelines that enable the translation of genetic laboratory test results into actionable prescribing decisions for specific drugs. The guidelines can center on genes (e.g. thiopurine methyltransferase and its implications for thiopurines) or around drugs (e.g. warfarin and CYP2C9 and VKORC1). Priority is given to genotyping tests that are already offered in CLIA-approved clinical settings.

The Genomics and Targeted Therapy Group, in FDA’s Office of Clinical Pharmacology

Works to advance the application of genomic technologies in the discovery, development, regulation, and use of medications.   Through pre-market review of therapeutics, policy development, regulatory research, and education, the Group ensures that pharmacogenomic and targeted development strategies are appropriately promoted and proactively applied in all phases of drug development.
Publications

WarfarinDosing

WarfarinDosing.org is a free online tool that helps prescribers estimate an ideal therapeutic dose for patients new to Warfarin. Estimates are based on clinical factors and the genotype of CYP2C9 and VKORC1, which are part of the pharmacogenetics panel offered by Rxight®. This is a powerful tool that leverages precision medicine and in doing so, helps eliminate the occurances of ADR’s in patients that take Warfarin.

IGNITE

IGNITE is an NIH-funded network dedicated to supporting the implementation of genomics in healthcare. The network is comprised of six research sites, a coordinating center, a steering committee, and working and interest groups. The National Human Genome Research Institute and an external scientific panel provide oversight for all network activity.