Introduction Studies have found that people are interested in receiving their individual research results (IRRs) in exchange for participating in genetic studies. However, it is unclear whether the public understands the nature and limitations of these results and whether they would want information with little or no clinical utility. Methods We conducted 10 focus groups in three U.S. cities to examine the types of results they would want to learn, the perceived value of results with little or no clinical utility, and how individuals might prioritize the value of different types of IRRs. Findings Nearly all focus group participants said they would want at least some IRRs returned. Priority was placed on results that are well understood. Less important to participants were magnitude of the risk conferred and actionability of the result. In addition to wanting results that will help treat or prevent disease, participants identified other potential clinical and personal reasons for wanting IRRs. Many believed the study had an obligation to return IRRs and that the study should trade off sample size to meet the perceived obligation of returning results. Although most people would prefer to receive as much information as possible, many were willing to accept the return of a limited set of results in exchange for their participation. Conclusions Members of the public understood the nuances and limitations that are likely to apply to most IRRs. Researchers and others deciding the value of returning a given result should not base their decision on actionability of the information alone. Rather, they should consider broadening their definition of clinical utility to include the possible personal utility of information.

Direct-to-consumer genetic testing has generated speculation about how customers will interpret results and how these interpretations will influence healthcare use and behavior; however, few empirical data on these topics exist. We conducted an online survey of DTC customers of 23andMe, deCODEme, and Navigenics to begin to address these questions. Random samples of U.S. DTC customers were invited to participate. Survey topics included demographics, perceptions of two sample DTC results, and health behaviors following DTC testing. Of 3,167 DTC customers invited, 33% (n = 1,048) completed the survey. Forty-three percent of respondents had sought additional information about a health condition tested; 28% had discussed their results with a healthcare professional; and 9% had followed up with additional lab tests. Sixteen percent of respondents had changed a medication or supplement regimen, and one-third said they were being more careful about their diet. Many of these health-related behaviors were significantly associated with responses to a question that asked how participants would perceive their colon cancer risk (as low, moderate, or high) if they received a test result showing an 11% lifetime risk, as compared to 5% risk in the general population. Respondents who would consider themselves to be at high risk for colon cancer were significantly more likely to have sought information about a disease (p = 0.03), discussed results with a physician (p = 0.05), changed their diet (p = 0.02), and started exercising more (p = 0.01). Participants' personal health contexts--including personal and family history of disease and quality of self-perceived health--were also associated with health-related behaviors after testing. Subjective interpretations of genetic risk data and personal context appear to be related to health behaviors among DTC customers. Sharing DTC test results with healthcare professionals may add perceived utility to the tests.

Purpose Some large population biobanks that house biospecimens and health information for research seek broad consent from participants, while others re-consent for specific new studies. Understanding research participants’ attitudes and preferences about broad and narrow consent may improve recruitment, retention, and public support. Methods An online survey was conducted among a representative sample of 4,659 US adults to examine relationships between consent preferences and demographic factors, beliefs about privacy, the value of research, and the perceived trustworthiness of researchers. Results Participants preferred broad consent (52%) over study-by-study consent models (48%). Higher preferences for study-by-study consent observed among Black non-Hispanic respondents, and respondents with lower income and education were explained by differences in the prevalence of one or more beliefs about the study. Respondents with fears about research and those that would feel respected if asked for permission for each research use preferred study-by-study consent. Preference for broad consent was related to the desire not to be bothered with multiple requests and the belief that the study could lead to improved treatments, cures, and lives saved. Conclusion These data suggest that support for broad consent is contingent on sufficient information about data use. Work with research participants and community leaders to understand, respond to, and influence opinions about a given, ongoing study may improve uptake of broad consent.

Purpose Recent policies specifying criteria about which individual research results (IRRs) to return leave considerable discretion to researchers. This study investigated which types of results the public wants when participating in genetic research and whether preferences differ based on willingness to participate. Methods A representative survey of U.S. adults used conjoint analysis to measure priorities among eight principles of a results policy for a proposed large-cohort study. Policy preferences were measured using twelve tasks where respondents chose between two groupings of the policy principles. Stratified analysis compared those self-identified as likely or unlikely to participate in genomic research. Results Of 1,515 respondents, 56% would participate in the proposed study. All eight principles were positively endorsed by participants (all p<0.003) with priority placed on providing results at no cost, and returning well-validated results for treatable and serious diseases. Providing detailed result reports was more highly valued than providing staff to explain results (p=0.0005). Receiving results about major changes in risk was marginally disvalued by those unlikely to participate (p=0.35). Conclusion Public preferences for well-validated IRRs for serious, actionable diseases agree with emerging recommendations. However, since preferences for receiving IRRs vary, some choices should be offered to research participants.

original research article Purpose: In 2006, the Department of Veterans Affairs launched the Genomic Medicine Program with the goal of using genomic information to personalize and improve health care for veterans. A step toward this goal is the Million Veteran Program, which aims to enroll a million veterans in a longitudinal cohort study and establish a database with genomic, lifestyle, military-exposure, and health information. Before the launch of the Million Veteran Program, a survey of Department of Veterans Affairs patients was conducted to measure preferences for opt-in and opt-out models of enrollment and consent.methods: An online survey was conducted with a random sample of 451 veterans. The survey described the proposed Million Veteran Program database and asked respondents about the acceptability of opt-in and opt-out models of enrollment. The study examined differences in responses among demographic groups and relationships between beliefs about each model and willingness to participate.Results: Most respondents were willing to participate under both opt-in (80%) and opt-out (69%) models. Nearly 80% said they would be comfortable providing access to residual clinical samples for research. At least half of respondents did not strongly favor one model over the other; of those who expressed a preference, significantly more people said they would participate in a study using opt-in methods. Stronger preferences for the opt-in approach were expressed among younger patients and Hispanic patients.conclusion: Support for the study and willingness to participate were high for both enrollment models. The use of an opt-out model could impede recruitment of certain demographic groups, including Hispanic patients and patients under the age of 55 years. 2012:14(9):787-794 Genet Med

Choice of consent model matters when engaging diverse populations in biobank research. Beliefs underlying concerns about privacy and genetic protections should be considered when constructing biobank protocols.

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Genomic sequencing technology is increasingly used in genetic research. Studies of informed consent for exome and genome sequencing (ES/GS) research have largely involved hypothetical scenarios or healthy individuals enrolling in population-based studies. Studies have yet to explore the consent experiences of adults with inherited disease. We conducted a qualitative interview study of 15 adults recently enrolled in a large-scale ES/GS study (11 affected adults, four parents of affected children). Our study had two goals: (1) to explore three theoretical barriers to consent for ES/GS research (interpretive/technical complexity, possibility of incidental findings, and risks of loss of privacy); and (2) to explore how interviewees experienced the consent process. Interviewees could articulate study goals and processes, describe incidental findings, discuss risks of privacy loss, and reflect on their consent experience. Few expected the study would identify the genetic cause of their condition. All elected to receive incidental findings. Interviewees acknowledged paying little attention to potential implications of incidental findings in light of more pressing goals of supporting research regarding their own medical conditions. Interviewees suggested that experience living with a genetic condition prepared them to adjust to incidental findings. Interviewees also expressed little concern about loss of confidentiality of study data. Some experienced the consent process as very long. None desired reconsent prior to return of study results. Families with inherited disease likely would benefit from a consent process in which study risks and benefits were discussed in the context of prior experiences with genetic research and genetic disease.