CPIC

The Clinical Pharmacogenetics Implementation Consortium (CPIC) was 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.

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 , EMA, PMDA, and HCSC 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
• Display all information on the website and provide comprehensive downloads

PharmVar

The Pharmacogene Variation (PharmVar) Consortium, established in 2017, is a critical resource for researchers and clinical professionals. PharmVar serves as a central repository for information facilitating the interpretation of pharmacogenetic test results to guide individualized drug therapy. The following highlight PharmVar’s contributions to pharmacogenetics:

• Provide haplotype-based annotations (star alleles) for important pharmacogenes in a user-friendly database
• Each gene is curated by an international expert panel
• PharmVar encourages users to submit their newly discovered haplotypes to grow content, as well as confirmatory submissions to substantiate allele definitions
• Publish GeneFocus review articles summarizing important gene information and PharmVar gene curation efforts
• PharmVar works closely with PharmGKB and CPIC to facilitate standardized pharmacogene variation designations across all three resources
• PharmVar also engages in other efforts such as clinical allele test recommendations published by the Association of Molecular Pathology (AMP) and the Genetic Testing Reference Materials Coordination Program (GeT-RM) to further promote clinical implementation using standardized nomenclature