Center for Genomics and Society

基因组学与社会中心

• 批准号: 7341788
• 负责人: Gail E HENDERSON
• 金额: $ 107.29万
• 依托单位: UNIV OF NORTH CAROLINA CHAPEL HILL
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-09-27 至 2012-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7341788
• 关键词: Address; Administrator; Affect; Area; Awareness; Benefits and Risks; Clinical; Collaborations; Communities; Complex; Consultations; DNA; DNA Sequence; Data; Data Collection; Data Set; Data Sources; Discipline; Disclosure; Dose; Education Projects; Education and Outreach; Ensure; Ethics; Ethics Consultation; Faculty; Family; Fostering; Future; Genetic; Genetic Research; Genomics; Genotype; Goals; Grant; Health Priorities; Hereditary Disease; Individual; Informed Consent; Institution; Knowledge; Lead; Link; Minority-Serving Institution; Neonatal Screening; North Carolina; Numbers; Patients; Pharmaceutical Preparations; Phenotype; Policies; Policy Maker; Policy Research; Population; Postdoctoral Fellow; Prospective Studies; Public Health; Public Health Practice; Public Policy; Range; Recommendation; Regulation; Research; Research Personnel; Sampling; Services; Societies; Staging; Students; TNFRSF5 gene; Techniques; Testing; Training; Training Activity; Training and Education; Translating; Translations; Underrepresented Minority; United States National Institutes of Health; Universities; Work; career; college; ethical legal social implication; experience; gene discovery; genetic registry; genetic technology; health disparity; high school; interdisciplinary collaboration; interest; new technology; novel; outreach; pharmacogenetic testing; programs; research study; response; sample collection; scale up; skills

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.

描述（由申请人提供）：随着该领域的成熟，北卡罗来纳大学-CH基因组学与社会中心重点关注基因组学研究新出现的伦理、法律和社会影响（ELSI），并将其重点从小型工作转向更大规模的工作。这些基因发现和披露活动涉及大量个体的 DNA 收集、对少数个体的整个 DNA 序列进行检查的研究，以及复杂数据集的创建，这些数据集可以通过多种方式与多个其他数据源联系起来。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性疾病，使用基因型数据制定药物剂量指南，结合基因型和表型数据进行大规模前瞻性研究，在基因登记中收集和存储 DNA 和环境数据，或者整合多个研究人员收集的 DNA 以创建一个“库”以用于当前或未来的探索性研究。我们认为，尽管大规模基因发现和披露工作具有巨大的科学前景，并且有可能更直接地导致公共政策或临床实践的变化，但它们也引发了小规模工作中不明显的广泛 ELSI 问题。 (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，特别是当遗传发现归因于个人是社会定义群体的成员时。 (2) 大规模基因组研究可能会改变知情同意的挑战，以应对风险和收益估计的变化。 (3) 当研究者、受试者和相关机构努力解决 DNA 样本使用、数据控制及其传播的监管问题时，新技术以及数据收集和存储能力可能会带来独特的 ELSI 问题。 (4) 所有这些担忧对于理解基因组研究结果如何最有效、最明智地转化为临床或公共卫生实践也是不可或缺的。我们组建了一个跨学科的研究团队，对大规模基因组学引发的这些 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；促进以我们的研究结果为基础的政策举措；并提供培训、教育和推广，特别针对代表性不足的少数群体，以促进 ELSI 对大规模基因组学的持续研究。除了我们的目标是解决新生儿筛查和其他遗传技术转化中的公共卫生优先事项之外，将代表性不足的少数群体纳入我们中心活动的各个方面，凸显了与旨在解决健康差异的大规模基因组研究最感兴趣和受其影响最大的人群进行协商的重要性。