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跨学科的研究、培训和政策活动，解决基因组学应用于公众所涉及的伦理、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渠道以未经研究的方式向公众提供，并且正在讨论使用DNA测序来筛查人群中可预防的健康风险。但是，在基因组学的潜在应用能够在广泛人群中实现之前，需要解决一些重要的伦理、法律和社会问题。为了创造一个真实的环境来研究基因组学的应用，CGS的研究人员将根据ELSI的观点设计并实施一项试验方案，在一个受控的环境中招募1000人，重点关注高渗透的罕见突变，这些突变使人们面临明显可预防的疾病的风险，并评估常见疾病的基因组风险。与其他旨在基因组学快速临床实施的试点研究不同，这项跨学科试验的框架是解决疾病预防基因组测序理念提出的关键道德问题；哪些基因座和分析最适合于基于人群的应用？一般人群中谁是这种服务最合适的用户？种群基因组测序如何在实践中得到最好的实施，会带来什么后果？将根据支持和反对在一般人群中进行定向基因组测序的论点和证据制定政策建议，同时考虑到危害和益处以及对个人、临床和司法的影响。跨学科的研究活动将扩大CGS在学术和非学术领域的合作，并为未来的研究提供机会，这将扩展和补充我们的研究议程。这些研究活动对卫生政策、专业准则以及最终指导基因组研究和实践的政策具有明确和直接的影响。

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.