|Session Title: Ethical, Legal, Social and Policy Issues in Genetics Session Type: Poster|
|Session Location: Exhibit Hall, Level 2, Convention Center Session Time: Fri 7:00AM-4:30PM|
|Program Number: 1353F Presentation Time: Fri, Oct 14, 2011, 2:00PM-3:00PM|
|Keywords: Ethical, Legal, Social and Policy Issues in Genetics, KW080 - GENOME-WIDE ASSOCIATION, KW076 - GENETIC TESTING, KW150 - PUBLIC, PATIENT AND PROFESSIONAL EDUCATION, KW054 - ETHICAL, LEGAL AND SOCIAL ISSUES, KW154 - RISK ASSESSMENT|
Guidelines for evaluating genetic associations for use in direct-to-consumer personal genetic analysis. S. Wu, G. M. Benton, J. Y. Tung, A. B. Chowdry, J. L. Mountain, B. T. Naughton 23andMe, Inc., Mountain View, CA.|
Crowd-sourced, free, and online tools mingle alongside commercial and non-profit ventures now offering genetic testing and analysis to individuals. Groups that offer information about how genetics may influence health and physical traits base their services on the scientific literature, primarily genome-wide association studies (GWAS), but how they evaluate and report on this literature can vary. The standards for evidence used by different groups can range from very permissive to quite stringent, balancing different needs for validity, stability, flexibility, scalability, and relevancy to the state of research. 23andMe has developed and evolved a robust set of guidelines for evaluating genetic associations reported in the literature. These guidelines account for sources of error and bias -- including confirmation bias, multiple hypothesis testing, population stratification, and type I error -- by considering parameters such as sample size, existence of replications, effect size, and correction for multiple hypotheses. In addition, the guidelines address broader issues raised by reporting on research primarily focused on populations of European descent and on associations with different levels of evidence to a diverse consumer audience. We describe lessons learned from several years of evaluating genetic associations in the context of connecting individuals to their genetic information.
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