Human Geneticists' Practices Preferences and Beliefs about Biobanks and Large Cohort Studies

Biobanks that collect and store participants' clinical and genetic information have become important tools in genomic research, disseminating data to a large number of investigators conducting genome-wide association studies and other genomic research. The ubiquity of these biobanks in research and the fact that many of their uses will be undetermined at the time a participant consents pose a host of ethical challenges related to privacy rights, participant consent, and data sharing. Moreover, in an atmosphere where the promise of genetic medicine is high, considerable discussion has arisen about whether, how, and when biobanks should return individual research results to participants who want such data. A number of recommendations have been published to guide researchers on these issues, and engagement projects have measured public preferences about participating in such research. However, no systematic assessment has been conducted to measure genetic researchers' practices, preferences and beliefs about how best to inform and consent biobank participants, how to protect their privacy while sharing their data with researchers, and how to return an individual's study results to them without creating roadblocks to effective genomic research. We propose a systematic study of genetic researchers' views about the current landscape of biobank use, in order to inform policies that maximize the benefits and minimize the harms of genomic research. We will measure and analyze the current practices, preferences, and opinions of genetic researchers in the U.S. regarding informed consent, privacy protection, data sharing and the return of individual results as they pertain to genomic biobank research. We will first conduct one-on-one interviews with 25 human geneticists from diverse backgrounds as well as 15 researchers who chair data access committees for biobanks. After carrying out formal qualitative data analysis, we will develop a survey based on the interview data and field it to 4,500 U.S.-based members of the American Society of Human Genetics and 350 U.S.-based scientists who have either contributed to or used the NIH dbGAP biobank database. The survey will measure the prevalence of practices, preferences, and opinions in the human genetics community. We will compare our findings to current guidelines on the conduct of biobank research in order to identify the strategies that are being used in practice, as well as areas where researchers may benefit from additional guidance. We will also compare geneticists' attitudes and practices to our previous work on public expectations of genetic research to identify areas of disconnect that may warrant consideration in the design and implementation of biobank policies. Because of the rapidly changing nature of genomic research, we have proposed an achievable, two-year study that will inform biobank research policy in a timely way. Findings will be disseminated to human geneticists and biobank leaders, and feedback will be requested from them to guide future work.