PharmGKB: pharmacogenomics discovery and implementation

7. 项目总结

7. Project Summary Pharmacogenomics studies how genetic variation influences drug response phenotypes and is a pillar of precision medicine—choosing the right drug for the right patient at the right dose and time. A public resource of pharmacogenomics information is critical—both to catalyze basic discovery of the molecular mechanisms that drive variability in drug response and to support the implementation of clinical research to understand how to best deliver pharmacogenomics in the clinic. The Pharmacogenomics Knowledgebase (PharmGKB) is the premier public repository of pharmacogenomics information. PharmGKB curators focus on high quality extraction and representation of knowledge in the primary literature, and capture information about individual genetic variations that impact drug response, the potential clinical impact of these variations, the pharmacokinetic and pharmacodynamic pathways of drug response, the pharmacogenomic requirements in regulatory documents (labels), and guidelines for genome-driven prescribing. The PharmGKB website hosts more than 60,000 unique IP visits per month and provides flexible access to pharmacogenomics knowledge on multiple devices. Most importantly, PharmGKB serves as a hub for the research community in pharmacogenomics and precision medicine—integrating its contents with critical resources and organizations including ClinVar, ClinGen, the FDA, the Clinical Pharmacogenetics Implementation Consortium (CPIC) and others. In this proposal, we request support for PharmGKB as a Genomic Community Resource, and outline a plan to (1) curate pharmacogenomic knowledge from the published literature and from relevant databases, combining manual curation with automated methods for triaging important knowledge, (2) build tools that catalyze the discovery and use of pharmacogenomic knowledge, by providing the content of our knowledge base in novel ways useful to our users, and (3) collaborate with efforts devoted to implementation of genomic medicine, by providing the best scientific knowledge to support these efforts.