Center for Genomics and Society

描述(由申请人提供)：北卡罗来纳大学-CH基因组学和社会中心专注于随着该领域的成熟而新出现的基因组学研究的伦理、法律和社会影响(ELSI)，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从其中收集DNA的大量个人，对其整个DNA序列进行检查的少数个人的研究，以及创建可能以各种方式与多个其他数据来源相联系的复杂数据集。在这些活动中收集的DNA可以测试一个人群是否存在已知的遗传疾病，使用基因分型数据来制定给药指南，结合用于大规模前瞻性研究的基因和表型数据，收集DNA和环境数据并将其存储在遗传登记中，或者整合多个研究人员收集的DNA以创建一个用于当前或未来探索性研究的“银行”。我们认为，尽管大规模的基因发现和披露工作具有巨大的科学前景，并有可能更直接地导致公共政策或临床实践的变化，但它们也提出了广泛的ELSI问题，在较小规模的努力中并不明显。(1)“扩大规模”可能改变遗传信息对个人、家庭或人口的影响，特别是当遗传发现是由于个人在社会定义的群体中的成员身份而被归因于个人时。(2)大规模基因组研究可能会改变对知情同意的挑战，以回应对风险和收益的不同估计。(3)新的技术和数据收集和存储能力可能会造成独特的小岛屿发展中国家问题，因为调查人员、受试者和有关机构都在努力管理DNA样本的使用、数据的控制及其传播。(4)所有这些问题对于理解将基因组研究成果最有效和最明智地转化为临床或公共卫生实践也是不可或缺的。我们已经组建了一个跨学科的研究团队，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；促进根据我们的研究结果制定的政策倡议；并提供培训、教育和推广，特别是针对代表性较低的少数群体，以促进继续进行大规模基因组学的ELSI研究。除了我们在新生儿筛查和其他基因技术的转化方面解决公共卫生优先事项的目标外，将代表性不足的少数群体纳入我们中心活动的所有方面，突显了对旨在解决健康差距的大规模基因组研究最感兴趣并受其影响最大的人群进行协商的重要性。

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.