In this administrative supplemental proposal, we outline a plan to continue the mission of the Pharmacogene Variation (PharmVar) Consortium. PharmVar succeeded the Human Cytochrome P450 (CYP) Allele Nomenclature Database which was founded in 2000 and served the pharmacogenetics community for over 15 years. Over the past three years PharmVar has taken the original web pages to a new level and built a ?Next-Generation? Pharmacogene Variation data repository to inform basic and clinical research in the field of drug metabolism, disposition and response. Information is highly curated to provide users high-quality and standardized information. This was achieved by closely working with the PharmGKB, but also the direct involvement of PGx community members. PharmVar has also developed a series of database features to display complex data in useful and easy to understand ways. PharmVar has, and will continue, to engage with and listen to PGx members to maximize the utility and value of this resource. Contingent on funding over the next year, PharmVar will focus on a single goal, i.e. the provision of high-quality pharmacogene nomenclature to the PGx community. In addition to day-to day operations, we will update information of genes in the database (i.e. review new submissions, update functional information, etc.), complete transitions of genes currently being curated, update source documentation and add the SLCO1B1 drug transporter gene to PharmVar for which no formal nomenclature exists (this gene has been prioritized by the Steering Committee). The recently developed application programming interface (beta version) will be optimized to facilitate data transfer to the PharmGKB, other database, as well as users. PharmVar also plans to add limited new content, which has already been compiled (e.g. allele activity scores), which is essential information for the translation of genotype to phenotype to facilitate grouping of samples/subjects for data analysis. The PharmVar database has become an integral part for PGx research at large, nationally and globally, and is viewed by many as an invaluable go-to resource.
The Pharmacogene Variation (PharmVar) Consortium has established a critical resource vital for basic research in drug metabolism and disposition, as well as clinical research investigating the role of genetic variation on drug response and adverse drug events. PharmVar will continue its mission to serve as a central repository providing standardized nomenclature for relevant pharmacogenes.
| Gaedigk, Andrea; Ingelman-Sundberg, Magnus; Miller, Neil A et al. (2018) The Pharmacogene Variation (PharmVar) Consortium: Incorporation of the Human Cytochrome P450 (CYP) Allele Nomenclature Database. Clin Pharmacol Ther 103:399-401 |
| Yang, Jun J; Whirl-Carrillo, Michelle; Scott, Stuart A et al. (2018) Pharmacogene Variation Consortium Gene Introduction: NUDT15. Clin Pharmacol Ther : |
| Goetz, Matthew P; Sangkuhl, Katrin; Guchelaar, Henk-Jan et al. (2018) Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 and Tamoxifen Therapy. Clin Pharmacol Ther 103:770-777 |
