Purpose: Sharing study data within the research community generates tension between two important goods: promoting scientific goals and protecting the privacy interests of study participants. This study was designed to explore the perceptions, beliefs, and attitudes of research participants and possible future participants regarding genome-wide association studies and repository-based research. Methods: Focus group sessions with (1) current research participants, (2) surrogate decision-makers, and (3) three age-defined cohorts (18 -34 years, 35-50, Ͼ50). Results: Participants expressed a variety of opinions about the acceptability of wide sharing of genetic and phenotypic information for research purposes through large, publicly accessible data repositories. Most believed that making de-identified study data available to the research community is a social good that should be pursued. Privacy and confidentiality concerns were common, although they would not necessarily preclude participation. R ecent technological advances have decreased the expense and increased the feasibility of genome-wide association studies (GWAS), and still more comprehensive genomic investigation, in the form of whole-exome research and full genome re-sequencing, is on the horizon. Because the contribution of individual gene variants to common diseases tends to be small, and because more definitive mutations tend to be quite rare, these forms of research require large sample sizes-in some cases, tens of thousands of participants. 1,2 Sharing study data within the research community is an attractive solution to the problem of amassing sufficient datasets; it also promises to increase research efficiencies, maximizing the utility of existing datasets while minimizing participant burden. These benefits have informed policies of the National Institutes of Health (NIH) aimed at promoting data sharing. 3, 4 However, making such data available to the research community generates tension between two important goods: advancing scientific goals and protecting the privacy interests of study participants. [5] [6] [7] [8] [9] Because every person's DNA is unique, the traditional means of safeguarding research participants' privacy-de-identification of study data and biospecimensdoes not guarantee protection. 10 -14 In addition, trade-offs exist between de-identification and other possible participant concerns, such as the ability to receive individual research findings or the ability to withdraw from research participation. 9, 15, 16 Numerous previous studies have characterized potential participants' views about willingness to participate in biobanks and related forms of population-based genomic research and how informed consent ought to be handled. [17] [18] [19] [20] [21] [22] [23] [24] [25] [26] [27] [28] [29] [30] [31] [32] [33] There are also some published reports regarding participants' views about research access to medical record data. 34 -39 However, relatively little is known about participants' and the general public's attitudes and perceptions regarding newer data-sharing mechanisms, such as the Federal database of Genotypes and Phenotypes (dbGaP), designed to make large amounts of genotypic and phenotypic information about individual participants available to any qualified researcher. McGuire et al. 40 have described research participants' preferences regarding informed consent for public release of data, whereas Kaufman et al. 41, 42 have investigated public opinions regarding a large prospective genetic cohort study being contemplated by the National Human Genome Research Institute. Lemke et al. 43 recently reported the results of focus groups with biorepository participants and members of the general public, in which they found "varying views" with respect to data sharing. This study was designed to explore the perceptions, beliefs, and attitudes of research participants and possible future participants regarding GWAS and repositorybased research. In this article, we report study findings with respect to participants' views about data sharing. The study was performed as part of the electronic Medical Records and Genomics (eMERGE) Network, a research consortium funded by the National Human Genome Research Institute and the National Institute of General Medical Sciences to explore the feasibility of using electronic medical record (EMR) data to derive reliable phenotypic data for use in GWAS. Our project, a partnership between the Group Health Research Institute, the University of Washington, and the Fred Hutchinson Cancer Research Center, is using an existing dataset from the Adult Changes in Thought (ACT) Study to perform proof-ofconcept GWAS of dementia, carotid artery atherosclerotic disease, and adverse events associated with statin use. The project also includes an aim specifically targeted at understanding the ethical and social implications of such research, with the ultimate goal of informing policy development. The ACT Study is a cohort study of aging and dementia and the successor to a model Alzheimer's Disease Patient Registry funded since 1986 by the National Institute on Aging. 44 The cohort study began in 1994 with the enrollment of a randomly selected population of 2,581 persons over age 65 who were known not to have dementia at the time of enrollment. The project has been focused on detection of markers and risk factors for Alzheimer disease and related dementias, as well as
Trinidad et al. REF explored the attitude of research participants and possible future participants regarding Genome-Wide Association Studies (GWAS): they found out that participants expressed a variety of opinions about the acceptability of wide sharing of genetic and phenotypic information for research purposes through large, publicly accessible data repositories.
Genomic research and wide data sharing: Views of prospective participants
Genetics in Medicine
Genetics in Medicine
Medicine