BMIR Research Colloquium: Teri Klein “Pharmacogenomics Knowledge for Personalized Medicine”

When:
November 2, 2017 @ 12:00 pm – 1:00 pm
2017-11-02T12:00:00-07:00
2017-11-02T13:00:00-07:00
Where:
MSOB, Conference Room X-275
1265 Welch Rd
Stanford, CA 94305
USA
Cost:
Free
Contact:
Marta Vitale-Soto
(650) 724-3979

Teri Klein
Teri Klein
Member of Academic Council
Professor (Research) of Biomedical Data Science and of Medicine (BMIR)
Stanford University

Abstract:

Pharmacogenomics (PGx) focuses on the use of genomic information to guide drug therapy and is a central component of precision medicine. Despite substantial progress in understanding how genetic variations impact drug efficacy and toxicity, the adoption of pharmacogenomics in clinical practice has been relatively slow. Major challenges in the implementation of pharmacogenomics knowledge include lack of awareness of the available evidence, unsure of how to interpret and use the genetic information, and lack of clear guidance on how to deliver information to the practitioners and patients. A central repository of pharmacogneomic knowledge is critical in addressing all of these challenges. The Pharmacogenomics Knowledgebase (PharmGKB) is a publically available premiere repository that collects, curates, and disseminates information about the impact of human genetic variation on drug responses. Through our research efforts and collaborations with pharmacogenomics research and clinical communities, we provide a comprehensive catalogue of genes and genetic variations that are most important for drug response phenotypes.  I will describe the core content of our knowledgebase and discuss how we use the knowledge to support clinical implementation of PGx.  In addition, I will highlight our collaboration with the Clinical Pharmacogenetics Implementation Consortium (CPIC) to develop freely available, peer-reviewed gene/drug practice guidelines for physicians that aids implementation of pharmacogenetic testing and improves the precision of drug selection and dosing. Lastly, I will present the development of The Pharmacogenomics Clinical Annotation Tool (PharmCAT), a software tool that extract all CPIC level-A variants from a genetic dataset (represented as a vcf), interpret the variant alleles, and generate a report that can then be used to inform prescribing decisions

Klein

References

  • Whirl-Carrillo, E.M. McDonagh, J. M. Hebert, L. Gong, K. Sangkuhl, C.F. Thorn, R.B. Altman and T.E. Klein. “Pharmacogenomics Knowledge for Personalized Medicine”. Clinical Pharmacology & Therapeutics (2012) 92(4): 414-417.
  • V. Relling, T.E. Klein. “CPIC: Clinical Pharmacogenetics Implementation Consortium of the Pharmacogenomics Research Network.” Clin Pharmacol Ther. 2011 Mar;89(3):464-7