Experiences and Outcomes in Early Adopters of Predispositional Sequencing

项目概要/摘要 基因组测序（GS）的潜力预示着精准医学的新时代， 来自健康个体的序列信息可以预测和预防疾病。目前，无论是利益 在没有指示的情况下进行基因组测序的危害在很大程度上是假设的。在这个不确定的 环境中，几千人已经有了倾向性的个人基因组测序 （PPGS）通过学术研究项目或商业服务，预计还有数千人 这样做很快。这些人中的大多数显然是健康的，否则不会获得GS 由于缺乏医疗必要性，但对非诊断性测序的兴趣和活动日益增加。 目的加强疾病预防及健康管理。早期采用者构成了一个独特的群体， 在这种测试普及之前，这些个体值得研究。我们收集了一些 这些项目组成了一个研究联盟，并试行了一项基于网络的调查，以更好地了解医疗， 行为和经济影响的成年人测序没有迹象。到目前为止，近1,400人 已被邀请参加我们的个人基因组测序成果（PeopleSeq）联盟， 大约50%的人参加了这项初步研究。共有658人 在公布PPGS结果后，我们完成了这项初步调查，我们的目标是增加一个额外的 通过与新的测序小组合作，2，400名参与者。 在本提案中，我们提出了一个计划和方法，以建立在我们的项目的基础上。我们将 扩大自愿参与排序的机会，以包括代表性不足的潜在参与者 通过提供教育计划，包括在几个历史上的黑人机构测序少数民族。 我们将在一段时间内进行基于网络的调查，并采用混合方法，包括 对选定的个人进行定性访谈。作为第一个纵向队列研究， 接受PPGS的健康成人，我们将广泛评估PPGS的拟议风险和益处， 包括对医疗保健利用的短期和长期影响，心理影响，以及与健康有关的 成果。我们将确定获得了哪些类型的后续临床护理（以及如何覆盖 经济上），并评估它是否在医学上有益。我们的研究结果将为2010年的筹备工作提供信息。 随着越来越多的人寻求并对DNA测序做出反应，医疗保健系统也将受到影响。此外，我们还将收集 对知情同意的受试者进行实际基因组报告，并将描述临床 重大发现。我们将联合收割机将这些基因组信息与有关后续行动的调查数据相结合， 探索PPGS提供临床有用信息的潜力，以帮助预防和健康 管理

PROJECT SUMMARY/ABSTRACT The potential of genomic sequencing (GS) promises a new era of precision medicine in which sequence information from healthy individuals can anticipate and prevent disease. At present, both the benefits and harms of genomic sequencing conducted without indication are largely hypothetical. In this uncertain environment, several thousand individuals have already had predispositional personal genome sequencing (PPGS) through academic research projects or commercial services, and many thousands more are projected to do so soon. The majority of these individuals are apparently healthy and would otherwise not receive GS due to lack of medical necessity, but there is growing interest and activity in sequencing for non-diagnostic purposes to enhance disease prevention and health management. Early adopters constitute a unique cohort of individuals that are worthy of study before such testing becomes widespread. We have gathered a number of these projects into a research consortium and piloted a web-based survey to better understand the medical, behavioral and economic impacts of sequencing adults without indication. To date, nearly 1,400 individuals have been invited to participate in our Personal Genome Sequencing Outcomes (PeopleSeq) Consortium, with approximately 50% of individuals contacted enrolling in this preliminary study. A total of 658 individuals have completed this preliminary survey after having their PPGS results disclosed, and we aim to add an additional 2,400 participants by partnering with new sequencing groups. In this proposal, we present a plan and methodology to build upon our project’s foundation. We will expand the opportunity to volunteer for sequencing to include potential participants from underrepresented minorities by offering educational programs that include sequencing at several Historically Black institutions. We will conduct web-based surveys over time and incorporate a mixed-methods approach by including qualitative interviews among selected individuals. As the first longitudinal cohort study of mostly generally healthy adults who receive PPGS, we will extensively evaluate the proposed risks and benefits of PPGS, including short- and long-term impacts on healthcare utilization, psychological impact, and health-related outcomes. We will determine what kinds of follow-up clinical care were obtained (and how it was covered financially), and assess whether it was medically beneficial. Findings from our study will inform preparations in the healthcare system as more individuals seek out and react to DNA sequencing. In addition, we will collect actual genomic reports on consenting participants and will characterize the number and nature of clinically significant findings. We will combine this genomic information with survey data about follow-up actions to explore the potential of PPGS to provide clinically useful information that can assist in prevention and health management.