The Pharmacogene Variation (PharmVar) Consortium is a critical resource for researchers and clinical professionals. At the center of the Consortium is the PharmVar Database which houses pharmacogene (PGx) variation that focuses on haplotype structure (allelic variation). The information in this central repository will facilitate the interpretation of pharmacogenetic test results to guide precision medicine.
In the mid 1990’s, an international group of leading experts devised the star (*) nomenclature system to provide the field with a systematic way to catalogue allelic variants of Cytochrome P450s, a super family of genes responsible for a wide range of activity towards numerous clinically used drugs. To keep track of an increasing number of P450 allelic variants, theHuman Cytochrome P450 (CYP) Allele Nomenclature Database (“Nomenclature website” for short) was established in 2002 and has become the primary hub for allele definitions as well as the authority of P450 nomenclature. The PGx field has readily embraced the star nomenclature system and heavily relies on the catalog of haplotype definitions listed on the Nomenclature website for research and clinical applications alike. The Pharmacogene Variation (PharmVar) Consortium will be the new home for PGx gene nomenclature and serve as a centralized ‘Next-Generation’ Pharmacogene Variation data repository. As a first step, the Nomenclature website will transition from its current location at the Karolinska Institute in Sweden to Children’s Mercy in Kansas City, USA, in September of 2017 and a new interactive database will be launched. The inaugural version of PharmVar will contain the high-priority CYP2C9, 2C19 and CYP2D6 genes; other P450 genes will be transferred to PharmVar within the first year of the project (once a gene is transferred into PharmVar, it will receive legacy status on the Nomenclature website). Other PGx genes including clinically actionable CPIC genes will be added in the future. Highlights of the PharmVar database include a transparent submission and review process, versioning at a haplotype, gene and database level and annotations. Pharmacogene variation data in PharmVar will be directly accessible to all users, but also through the PharmGKB. The utility of PharmVar will be maximized through direct efforts with the PharmGKB as well as other stake holders to unify and standardize pharmacogene variation designation and translation into phenotype. The PharmVar and PharmGKB teams bring rich expertise and existing collaborations to the Consortium, which are essential components for advancing genome-informed medicine and PGx-guided individualized drug therapy at large.
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Have a question? Please contact Andrea Gaedigk at firstname.lastname@example.org
In this proposal we outline a plan for a Pharmacogene Variation (PharmVar) Consortium that will establish a critical resource for researchers and clinical professionals. The PharmVar Consortium will serve as a central repository for information facilitating the interpretation of pharmacogenetic test results to guide individualized drug therapy.
Andrea Gaedigk ____________________________________________________ Director, Pharmacogenetics Core Laboratory, Division of Clinical Pharmacology & Medical Toxicology Children’s Mercy Hospitals & Clinics, Kansas City, MO Professor of Pediatrics, University of Missouri-Kansas City School of Medicine email@example.com