|Session Title: Pharmacogenetics Session Type: Poster|
|Session Location: Exhibit Hall, Level 2, Convention Center Session Time: Fri 7:00AM-4:30PM|
|Program Number: 1391F Presentation Time: Fri, Oct 14, 2011, 2:00PM-3:00PM|
|Keywords: Pharmacogenetics, KW131 - PHARMACOGENETICS, KW054 - ETHICAL, LEGAL AND SOCIAL ISSUES, KW134 - PHENOTYPE, KW080 - GENOME-WIDE ASSOCIATION, KW143 - PREDICTIVE TESTING|
Web-based phenotyping for pharmacogenomics research. K. E. Barnholt1, A. K. Kiefer1, T. K. Acquaye1, R. B. Altman2, H. L. McLeod3, J. A. Johnson4, C. B. Marsh5, J. Y. Tung1, J. L. Mountain1 1) 23andMe, Inc., Mountain View, CA; 2) Department of Bioengineering, Stanford University, Stanford, CA; 3) Division of Pharmacotherapy and Experimental Therapeutics, Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, NC; 4) Department of Pharmacotherapy and Translational Research, College of Pharmacy, University of Florida, Gainesville, FL; 5) Division of Pulmonary, Allergy, Critical Care, and Sleep Medicine, Department of Internal Medicine, Ohio State University, Columbus, OH.|
Significant barriers to the progress of pharmacogenomics research include the cost and time required to assemble, phenotype and genotype an appropriately-sized cohort. 23andMes research program uses web-based surveys to gather a broad range of phenotype data from an expanding cohort of genotyped individuals. The primary goal of this study is to develop, assess and implement web-based surveys for the rapid, efficient collection of drug response and toxicity data across three classes of medication: warfarin, proton pump inhibitors (PPIs), and non-steroidal anti-inflammatory drugs (NSAIDs). In the initial phase of this two-part study, we have assessed how well web-based surveys elucidate drug response data by comparing online self-reported data to responses obtained via semi-structured telephone interviews. A set of approximately 120 telephone interviews is currently underway. The second phase will incorporate data from tens of thousands of 23andMe customers to validate known associations between PPIs and the CYP2C19 gene, and between warfarin and NSAIDs and the CYP2C9 gene. The latter phase will also leverage 23andMes customized genotyping chip to search for novel genetic associations with drug efficacy and toxicity. Our survey objective is to gather high quality data regarding drug name, drug dosage, duration of drug use, side effects, and efficacy while achieving a high completion rate. Telephone interview data from the initial phase have indicated that the greatest challenges center around providing accurate date and dosage information. Based on participant feedback, we have revised the structure and flexibility of surveys to correspond with the type of drug under investigation. For drug classes that encompass a broad range of use patterns, such as NSAIDs, we have implemented a web-based approach with several layers of conditional logic to allow adequate input of the most relevant data. This approach is designed to better meet the needs of responders with both vague and precise recollections of their drug dosage and use duration. These survey revisions are undergoing further assessment. Since web-based surveys can be administered efficiently to millions of individuals, validation of this method of assessing drug response would lead to significant acceleration of pharmacogenomics research. This study is funded in part by NIH grant 1R43HG005807-01.