Methodological advances now permit the use of genome-wide association studies (GWAS)to discover novel genotype-phenotype associations. GWAS offer a powerful tool for identifyinggenetic contributions to both common and rare diseases. At the same time, GWAS raiseprofound and challenging ethical questions. The most pressing questions derive from thelikelihood that GWAS will uncover genetic information with the potential to be clinicallymeaningful to individual participants. As a result, investigators will inevitably face the questionof whether individual genetic results from genome-wide scans should be disclosed to subjects. Commentators and ethics panels have addressed the question of whether genetic testresults should be returned to research participants. Most policymakers advocate a cautiousapproach: disclosure should be limited to a narrow subset of results that meet stringent criteriarelated to magnitude of risk, severity of phenotype, and availability of prophylactic, therapeuticor reproductive interventions. Limited data regarding research participants' views, on the otherhand, suggest a strong preference for disclosure of test results. However, because these dataare based upon dichotomous responses to single questions, they do not address whetherparticipants' views are sensitive to the factors identified by expert panels as salient to decisionsabout return of results. Without such information, it is impossible to know whether the gapbetween participants' views and policy guidance is as profound as the data suggest. The present proposal aims to bridge this gap through a factorial survey of 1800 members ofthe Jackson and Framingham Heart Studies, two influential cardiovascular cohort studies thatconduct GWAS. Specifically, the proposed study will evaluate whether the criteria highlightedby policymakers are predictive of research participants' desires for this information. The studywill also evaluate the relationships between attitudinal characteristics (e.g., views on andknowledge about genetics) and sociodemographic characteristics (e.g., age, education) andparticipants' desires for return of results. The findings will permit assessment of the extent towhich there is concordance between the views of experts and those of research participants onthis vexing topic. These data will help shape practice and policy regarding the return ofindividual results from genomic research.

Public Health Relevance

/RELEVANCE Genome-wide association studies (GWAS) are a revolutionary new tool for understandingthe genetic foundations of human health and disease. Because disclosure of genetic testresults to participants may have both harmful and beneficial consequences; however;investigators' obligations when research tests indicate that a study participant may be at risk fora genetic condition are ethically controversial. This study will survey 1800 participants in theFramingham and Jackson Heart Studies about their preferences regarding disclosure of geneticresults; in order to guide policies that address this dilemma and thereby to help ensure thatGWAS realize their full potential for understanding and improving human health.

National Institute of Health (NIH)
National Human Genome Research Institute (NHGRI)
Research Project (R01)
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Ethical, Legal, and Social Implications of Human Genetics Study Section (ELS)
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Mcewen, Jean
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University of Pennsylvania
Internal Medicine/Medicine
Schools of Medicine
United States
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