The human genome sequencing project provides the foundation for using individual genetics to optimize the selection and dosing of medications. The field of pharmacogenomics is still young, but has undergone a revolution in the last decade, as genomic technologies have uncovered associations between drug response phenotypes and genetic variations. The challenge now is to define the mechanisms underlying these associations, to advance our detailed understanding of the genetics of drug response. The PharmGKB ( is devoted to collecting, encoding and disseminating knowledge about pharmacogenomics. PharmGKB is the pre-eminent resource for information about genes involved in the pharmacokinetics (PK) and pharmacodynamics of drug response, the pathways in which they act, and their important polymorphisms. PharmGKB staff curate this information, and have also helped lead successful international data sharing initiatives. In this proposal, we outline a plan to (1) curate information about genetic variations, pathways and networks relevant to drug response (2) create informatics tools for understanding the mechanism of drug response, (3) create and support new data sharing consortia, (4) engage in strategic collaborations to maximize PharmGKB's impact, and (5) disseminate the PharmGKB resources to the scientific community. We provide testimonials from users and letters of support from the research community to demonstrate our ongoing impact on the field.

Public Health Relevance

Pharmacogenomics is the study of how variations in human genes affect our response to drugs. It is the science behind personalized medicine-using individual genetics to increase the efficacy of drugs, and reduce their unwanted side effects. This proposal outlines a plan to extend the PharmGKB, a web-based resource that provides high-quality information and tools to researchers in pharmacogenomics.

National Institute of Health (NIH)
National Institute of General Medical Sciences (NIGMS)
Resource-Related Research Projects (R24)
Project #
Application #
Study Section
Special Emphasis Panel (ZGM1-PPBC-5 (KB))
Program Officer
Long, Rochelle M
Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
Total Cost
Indirect Cost
Stanford University
Schools of Medicine
United States
Zip Code
Daneshjou, Roxana; Cavallari, Larisa H; Weeke, Peter E et al. (2016) Population-specific single-nucleotide polymorphism confers increased risk of venous thromboembolism in African Americans. Mol Genet Genomic Med 4:513-20
Barbarino, Julia M; McGregor, Tracy L; Altman, Russ B et al. (2016) PharmGKB summary: very important pharmacogene information for MT-RNR1. Pharmacogenet Genomics 26:558-567
Chen, Jonathan H; Podchiyska, Tanya; Altman, Russ B (2016) OrderRex: clinical order decision support and outcome predictions by data-mining electronic medical records. J Am Med Inform Assoc 23:339-48
Caudle, Kelly E; Gammal, Roseann S; Whirl-Carrillo, Michelle et al. (2016) Evidence and resources to implement pharmacogenetic knowledge for precision medicine. Am J Health Syst Pharm 73:1977-1985
Saito, Y; Stamp, L K; Caudle, K E et al. (2016) Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for human leukocyte antigen B (HLA-B) genotype and allopurinol dosing: 2015 update. Clin Pharmacol Ther 99:36-7
Chen, Jonathan H; Goldstein, Mary K; Asch, Steven M et al. (2016) DYNAMICALLY EVOLVING CLINICAL PRACTICES AND IMPLICATIONS FOR PREDICTING MEDICAL DECISIONS. Pac Symp Biocomput 21:195-206
Kalman, L V; Agúndez, Jag; Appell, M Lindqvist et al. (2016) Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting. Clin Pharmacol Ther 99:172-85
Hoffman, James M; Dunnenberger, Henry M; Kevin Hicks, J et al. (2016) Developing knowledge resources to support precision medicine: principles from the Clinical Pharmacogenetics Implementation Consortium (CPIC). J Am Med Inform Assoc 23:796-801
Alvarellos, Maria L; Krauss, Ronald M; Wilke, Russell A et al. (2016) PharmGKB summary: very important pharmacogene information for RYR1. Pharmacogenet Genomics 26:138-44
Klein, Daniel J; Boukouvala, Sotiria; McDonagh, Ellen M et al. (2016) PharmGKB summary: isoniazid pathway, pharmacokinetics. Pharmacogenet Genomics 26:436-44

Showing the most recent 10 out of 127 publications