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中新兴的伦理、法律和社会影响（ELSI），随着该领域的成熟，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已收集DNA的个体，对少数正在检查其整个DNA序列的个体进行研究，以及可能以各种方式与多个其他数据来源相关联的复杂数据集的创建。在这些活动中收集的DNA可以测试人群是否存在已知的遗传疾病，使用基因型数据来制定药物剂量指南，将基因型和表型数据结合起来进行大规模前瞻性研究，在遗传登记中收集和存储DNA和环境数据，或整合多个研究人员收集的DNA以创建一个“银行”用于当前或未来的探索性研究。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，但它们也引发了广泛的ELSI问题，而这些问题在小规模的工作中并不明显。(1)“放大”可能改变遗传信息对个人、家庭或群体的影响，特别是当遗传发现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，以应对风险和收益评估的变化。(3)新技术、数据收集和存储能力可能会带来独特的ELSI问题，因为研究者、受试者和相关机构都在努力应对DNA样本使用、数据控制及其传播的监管。(4)所有这些问题对于理解基因组研究成果最有效和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；为基因组研究者提供研究伦理咨询服务；促进以我们的研究结果为依据的政策措施；并提供培训、教育和外联服务，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。除了我们的目标是解决新生儿筛查和其他遗传技术翻译方面的公共卫生优先事项外，在我们中心活动的各个方面纳入代表性不足的少数群体，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.