Center for Genomics and Society

描述（由申请人提供）：UNC-CH基因组学与社会中心专注于基因组学研究的新兴伦理，法律的和社会影响（ELSI），因为该领域已经成熟，并将其重点从小规模的努力转移到更大规模的努力。这些基因发现和披露活动涉及大量的个人，从他们的DNA已被收集，研究与少数个人的整个DNA序列正在检查，并创建复杂的数据集，可以以各种方式链接到多个其他来源的数据。在这些活动中收集的DNA可以测试一个群体是否存在已知的遗传疾病，使用基因型数据来制定药物给药指南，为大规模前瞻性研究结合联合收割机基因型和表型数据，在遗传登记处收集和存储DNA和环境数据，或合并多个研究者收集的DNA以创建一个“库”，用于当前或未来的探索性研究。我们认为，虽然大规模的基因发现和披露的努力有巨大的科学前景，并有可能导致更直接的公共政策或临床实践的变化，他们也提出了广泛的ELSI问题，而不是在小规模的努力明显。(1)“扩大规模”可能会改变遗传信息对个人、家庭或群体的影响，特别是当遗传研究结果因个人属于社会界定的群体而归于个人时。(2)大规模的基因组研究可能会改变知情同意的挑战，以应对风险和效益估计的变化。(3)新的技术和数据收集和存储能力可能会带来独特的ELSI问题，因为调查人员，主题和相关机构正在努力解决DNA样本使用，数据控制及其传播的监管问题。(4)所有这些问题也是理解基因组研究结果最有效和最明智地转化为临床或公共卫生实践所不可或缺的。我们已经组建了一个跨学科的研究人员团队，对大规模基因组学提出的这些ELSI问题进行研究;为基因组研究人员提供研究伦理咨询服务;促进我们的研究结果所告知的政策举措;并提供培训，教育和外展，特别关注代表性不足的少数民族，以促进大规模基因组学的持续ELSI研究。除了我们在新生儿筛查和其他遗传技术的转化中解决公共卫生优先事项的目标外，在我们中心活动的各个方面纳入代表性不足的少数民族，突出了对旨在解决健康差异的大规模基因组研究最感兴趣和最受影响的人群进行咨询的重要性。

DESCRIPTION (provided by applicant): The UNC-CH Center for Genomics and Society focuses on newly emerging ethical, legal and social implications (ELSI) of genomics research as the field matures and shifts its focus from small efforts to those on a much larger scale. These gene discovery and disclosure activities involve large numbers of individuals from whom DNA has been collected, studies with a small number of individuals whose whole DNA sequences are being examined, and the creation of complex data sets that may be linked in a variety of ways to multiple other sources of data. DNA collected in these activities may test a population for the presence of a known genetic disorder, use genotypic data to develop guides for drug dosing, combine genotype and phenotype data for large-scale prospective studies, collect and store DNA and environmental data in genetic registries, or consolidate DNA collected by multiple investigators to create a "bank" for use in current or future exploratory studies. We argue that although large-scale gene discovery and disclosure efforts have tremendous scientific promise and the potential to lead more directly to changes in public policy or clinical practice, they also raise a wide range of ELSI issues not apparent in smaller-scale efforts. (1) "Scaling up" may change the implications of genetic information for individuals, families, or populations, particularly when genetic findings are ascribed to individuals by virtue of their membership in socially defined groups. (2) Large-scale genomic research may alter challenges to informed consent in response to shifting estimations of risk and benefit. (3) New technologies and data collection and storage capacities may pose unique ELSI issues as investigators, subjects and relevant institutions grapple with regulation of the use of DNA samples, control of data, and their dissemination. (4) All of these concerns are also integral to understanding the most efficient and judicious translation of genomic research findings into clinical or public health practice. We have assembled an interdisciplinary team of investigators to conduct a research on these ELSI issues raised by large scale genomics; offer a research ethics consultation service for genomic researchers; facilitate policy initiatives that are informed by our research findings; and provide training, education, and outreach particularly focused on underrepresented minorities, to foster continued ELSI research on large-scale genomics. In addition to our goal of addressing public health priorities in newborn screening and in the translation of other genetic technologies, inclusion of underrepresented minorities in all aspects of our Center activities highlights the importance of consultation from populations with greatest interest in and most affected by large-scale genomic studies intended to address health disparities.