Ethics of Future Disclosure of Individual Risk Information in a Genetic Cohort Study: A Survey of Donor Preferences

BACKGROUND: Although genetic epidemiologic research has added an element of individualization to epidemiologic research, there is neither agreement nor much discussion on whether donors of genetic samples should be offered an opportunity to receive individualized results regarding their genetic susceptibility to disease. Little is known regarding donors’ preferences for future disclosure of individual results. The purpose of this study is to investigate the actual preferences of such donors with regard to receiving individual results, to explore the factors related to their decision, and then to discuss ethical issues regarding the disclosure of results. METHODS: Participants (n = 1857) of an ongoing Japanese population-based genetic cohort study in Takashima, Shiga, in 2003, were asked at entry about their preferences with regard being recontacted by researchers in the future and whether they wanted to receive reports on their individual genetic results if genetic problems relevant to their health are discovered for which efficacious interventions might be available. RESULTS: Most of the donors wished to be recontacted and receive reports, but some did not want any reports. Those who were younger, former/current drinkers, or had at least 1 parent who had had cancer were more likely to want the results, while those who had at least 1 sibling with a medical history of cancer were less likely to want the results. CONCLUSION: We observed a high level of positive preference for future disclosure of individual genetic results, which is in line with the professional views on the ethics of this issue. A well-considered procedure for ascertaining donors’ preferences for receiving the results of the research is required from an ethical perspective.