Human Geneticists' Practices Preferences and Beliefs about Biobanks and Large C

描述(申请人提供)：收集和存储参与者的临床和遗传信息的生物库已成为基因组研究的重要工具，将数据传播给进行全基因组关联研究和其他基因组研究的大量研究人员。这些生物库在研究中无处不在，而且在参与者同意的时候，它们的许多用途将是未知的，这构成了与隐私权、参与者同意和数据共享相关的一系列伦理挑战。此外，在基因医学前景看好的情况下，关于生物库是否、如何以及何时应该将个人研究结果返回给想要这些数据的参与者，已经出现了相当大的讨论。已经公布了一些建议，以指导研究人员在这些问题上的研究，参与项目衡量了公众对参与此类研究的偏好。然而，还没有进行系统的评估来衡量遗传研究人员的做法、偏好和信念，这些做法、偏好和信念涉及如何最好地通知和同意生物库参与者，如何在与研究人员共享数据的同时保护他们的隐私，以及如何在不给有效的基因组研究设置障碍的情况下将个人的研究结果返回给他们。我们建议对遗传研究人员对生物库使用现状的看法进行系统研究，以便制定政策，最大化基因组研究的好处，最大限度地减少基因组研究的危害。我们将测量和分析美国遗传研究人员目前在知情同意、隐私保护、数据共享和返回个人结果方面的做法、偏好和意见，因为它们与基因组生物库研究有关。我们将首先对来自不同背景的25名人类遗传学家以及15名担任生物库数据访问委员会主席的研究人员进行一对一的采访。在进行正式的定性数据分析后，我们将根据采访数据制定一项调查，并将其提供给美国人类遗传学学会的4,500名美国成员和350名曾为NIH DBGaP生物库数据库做出贡献或使用过该数据库的美国科学家。这项调查将衡量人类遗传学社区中的做法、偏好和观点的流行度。我们将把我们的发现与目前关于生物库研究的指导方针进行比较，以确定正在实践中使用的策略，以及研究人员可能从额外指导中受益的领域。我们还将把遗传学家的态度和做法与我们之前关于公众对基因研究的期望的工作进行比较，以确定在设计和实施生物库政策时可能需要考虑的脱节领域。由于基因组研究的性质迅速变化，我们提出了一项可实现的、为期两年的研究，该研究将及时为生物库研究政策提供信息。研究结果将分发给人类遗传学家和生物库负责人，并将要求他们提供反馈，以指导未来的工作。 公共卫生相关性：包含参与者临床数据和遗传信息的生物库已成为基因组研究中了解常见复杂疾病的重要工具，但它们引发了一些伦理问题。为了确保公众从基因组研究中受益，有必要了解利用生物库数据的研究人员的做法。这项对遗传研究人员在生物库研究方面的观点和做法的系统研究将为最大限度地提高基因组研究的公共健康利益的政策提供信息。

DESCRIPTION (provided by applicant): 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. PUBLIC HEALTH RELEVANCE: Biobanks containing participants' clinical data and genetic information have become important tools in genomic research to understand common, complex diseases, but they raise a number of ethical issues. In order to ensure that the public benefits from genomic research, it is necessary to understand the practices of researchers who are making use of biobank data. This systematic study of genetic researchers' views and practices with respect to biobank research will inform polices that maximize the public health benefits of genomic research.