Center for Genomics and Society

描述(由申请人提供)：基因组学与社会中心(CGS)更新计划的总体目标是开展一套综合的跨学科研究、培训和政策活动，解决在将基因组学应用于普通公众时涉及的伦理、法律和社会问题。基因组检测已经通过直接面向消费者的公司和其他场所以一种未经研究的方式向普通公众提供，并正在讨论使用DNA测序来筛查人群中可预防的健康风险。但是，在基因组学的这一潜在应用能够在广泛的人群中实现之前，需要解决一些重要的伦理、法律和社会问题。为了创造一个研究基因组学这一应用的现实环境，CGS的调查人员将设计并进行一项由ELSI观点提供信息的试验方案，在受控环境中招募1000人，重点放在将人们置于显著可预防疾病风险中的高渗透性罕见突变和常见疾病的基因组风险评估上。与其他旨在快速临床实施基因组学的试点研究不同，这项跨学科试验旨在解决基因组测序预防疾病的想法引发的关键道德问题；哪些基因座和分析最适合于基于人群的应用？在普通民众中，谁会是这种服务最合适的用户？如何才能在实践中最好地实施种群基因组测序，并产生什么后果？将根据在普通人群中支持和反对定向基因组测序的论点和证据制定政策建议，同时考虑到危害和好处，以及个人、临床和司法方面的影响。跨学科研究活动将扩展CGS在学术和非学术社区的合作，并为未来的研究打开机会，这些研究将扩展和补充我们的研究议程。这些研究活动对卫生政策、专业指南以及最终指导基因组研究和实践的政策都有明确而直接的影响。

DESCRIPTION (provided by applicant): The overall aim of the Center for Genomics and Society (CGS) renewal plan is to carry out an integrated set of transdisciplinary research, training, and policy activities addressing ethical, legal and social Issues involved in the application of genomics to the general public. Genomic testing is already being offered to the general public in an unstudied way by direct-to-consumer companies and through other venues and the use of DNA sequencing to screen populations for preventable health risks is being discussed. But before this potential application of genomics can be realized in the broad population, a number of important ethical, legal, and social concerns will need to be addressed. To create a real-world context in which to study this application of genomics, CGS investigators will design and conduct a trial protocol informed by ELSI perspectives, recruiting 1,000 individuals within a controlled setting, focusing on both highly penetrant rare mutations that place people at risk for eminently preventable conditions and on the assessment of genomic risk for common disease. Unlike other pilot studies aimed at the rapid clinical Implementation of genomics, this interdisciplinary trial is framed to address the key moral questions that the Idea of genomic sequencing for disease prevention raises; what loci and analyses are most appropriate for population-based application? Who within the general population would be the most appropriate users of such a service? How can population genomic sequencing be best Implemented in practice, and with what consequences? Policy recommendations based on the arguments and evidence for and against targeted genomic sequencing in the general population will be formulated, taking into account the harms and benefits, and the personal, clinical, and justice implications. Transdisciplinary research activities will extend CGS collaborations across academic and non-academic communities, and open opportunities for future studies that will extend and complement our research agenda. These research activities have clear, immediate implications for health policy, for professional guidelines, and ultimately for policies that guide genomic research and practice.