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

人类遗传学家对生物样本库和大型 C 的实践偏好和信念

• 批准号: 8127997
• 负责人: DEBRA JH MATHEWS
• 金额: $ 36.4万
• 依托单位: JOHNS HOPKINS UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2010
• 资助国家: 美国
• 起止时间: 2010-08-16 至 2014-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8127997
• 关键词: Address; Administrator; Adopted; American; Area; Attitude; Authorization documentation; Belief; Clinical; Clinical Data; Cohort Studies; Collection; Communities; Complex; Conflict (Psychology); Consensus; Consent; Data; Data Analyses; Data Protection; Databases; Development; Disease; Ensure; Environment; Ethical Issues; Ethics; Feedback; Future; Genetic; Genetic Medicine; Genetic Research; Genetic screening method; Genomics; Goals; Grant; Guidelines; Health Benefit; Human; Human Genetics; Individual; Informed Consent; Interview; Measurement; Measures; Medical Genetics; Methods; NIH Program Announcements; National Human Genome Research Institute; Nature; Participant; Police; Policies; Policy Research; Practice Guidelines; Predisposition; Prevalence; Privacy; Public Health; Publishing; Recommendation; Research; Research Personnel; Research Subjects; Rights; Risk; Scientist; Societies; Structure; Surveys; Time; United States National Institutes of Health; Work; base; biobank; cohort; data sharing; database of Genotypes and Phenotypes; design; expectation; experience; genome wide association study; human subject; insight; interest; member; new technology; planetary Atmosphere; population based; preference; public health relevance; rapid growth; response; tool; willingness

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.

描述（由申请人提供）：收集和存储参与者临床和遗传信息的生物库已成为基因组研究的重要工具，将数据传播给大量进行全基因组关联研究和其他基因组研究的研究人员。这些生物库在研究中的普遍存在，以及它们的许多用途在参与者同意时尚未确定的事实，构成了一系列与隐私权、参与者同意和数据共享相关的伦理挑战。此外，在基因医学前景看好的环境下，关于生物库是否、如何以及何时应该将个人研究结果返还给需要此类数据的参与者的问题，已经引发了相当多的讨论。已经发表了一些建议，以指导研究人员在这些问题上，参与项目已经衡量了公众对参与此类研究的偏好。然而，没有进行系统的评估，以衡量遗传研究人员的做法，偏好和信念，如何最好地通知和同意生物库的参与者，如何保护他们的隐私，同时与研究人员分享他们的数据，以及如何返回个人的研究结果给他们，而不会对有效的基因组研究造成障碍。 我们提出了一个系统的研究遗传研究人员对生物库使用的当前景观的看法，以告知政策，最大限度地提高基因组研究的好处和危害最小化。我们将衡量和分析目前的做法，偏好和意见的遗传研究人员在美国关于知情同意，隐私保护，数据共享和个人结果的回报，因为它们涉及到基因组生物库研究。我们将首先与25位来自不同背景的人类遗传学家以及15位主持生物库数据访问委员会的研究人员进行一对一的访谈。在进行正式的定性数据分析后，我们将根据访谈数据制定一项调查，并将其提交给4，500名美国-美国人类遗传学协会的成员和350名美国-为NIH dbGAP生物库数据库做出贡献或使用该数据库的科学家。该调查将衡量人类遗传学界的实践，偏好和意见的流行程度。我们将把我们的研究结果与目前生物库研究的指导方针进行比较，以确定在实践中使用的策略，以及研究人员可以从额外指导中受益的领域。我们还将比较遗传学家的态度和做法，我们以前的工作对遗传研究的公众期望，以确定断开的领域，可能需要考虑在生物库政策的设计和实施。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，并要求他们提供反馈，以指导未来的工作。 公共卫生关系：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，有必要了解使用生物库数据的研究人员的做法。这项对遗传学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卫生效益的政策提供信息。