Experiences and Outcomes in Early Adopters of Predispositional Sequencing

倾向性测序早期采用者的经验和成果

• 批准号: 9980970
• 负责人: Robert C. Green
• 金额: $ 80万
• 依托单位: BRIGHAM AND WOMEN'S HOSPITAL
• 依托单位国家: 美国
• 财政年份: 2018
• 资助国家: 美国
• 起止时间: 2018-09-21 至 2022-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9980970
• 关键词: Adult; Advocate; African American; Age; American; Attention; Benefits and Risks; Caring; Clinical; Clinical Practice Guideline; Community Health Networks; Consent; DNA Sequence; DNA sequencing; Data; Data Aggregation; Diagnosis; Disease; Enrollment; Environment; European; Foundations; Frequencies; Funding; Future; General Population; Genetic Predisposition to Disease; Genomics; Goals; Health; Health Expenditures; Healthcare Systems; Historically Black Colleges and Universities; Iatrogenesis; Individual; Industry; Interview; Investigation; Knowledge; Lead; Life Style; Longitudinal cohort study; Medical; Medicine; Methods; Morbidity - disease rate; Nature; Online Systems; Outcome; Participant; Patient Self-Report; Patients; Planning Techniques; Population; Practice Guidelines; Predisposition; Preparation; Prevention; Process; Provider; Psychological Impact; Race; Reporting; Research; Research Project Grants; Risk; Services; Surveys; Testing; Time; Underrepresented Groups; Underrepresented Minority; United States National Institutes of Health; behavioral economics; clinical care; clinical practice; clinically relevant; clinically significant; cohort; cost; diet and exercise; disorder prevention; economic impact; experience; follow-up; genetic information; genome sequencing; health care service utilization; health management; innovation; interest; precision medicine; prevent; programs; recruit; research study; sex; volunteer

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.

项目摘要/摘要 基因组测序（GS）的潜力有望成为精确医学的新时代 来自健康个体的序列信息可以预期并预防疾病。目前，这两个好处 没有指示进行的基因组测序的危害在很大程度上是假设的。在这个不确定的情况下 环境，数千人已经进行了倾向的个人基因组测序 （PPG）通过学术研究项目或商业服务，预计了数千个 尽快这样做。这些人中的大多数显然很健康，否则不会接受GS 由于缺乏医疗必要性，但是对非诊断的测序越来越兴趣和活动 旨在增强疾病预防和健康管理的目的。早期采用者构成了独特的队列 在这种测试之前值得学习的个体变得广泛。我们收集了许多 这些项目进入了一个研究联盟，并试行了一项基于网络的调查，以更好地了解医学， 没有迹象表明的成年人的行为和经济影响。迄今为止，近1400个人 已被邀请参加我们的个人基因组测序结果（PeopleSeq）联盟， 大约50％的人与参加这项初步研究的人联系。共有658个人 在公开了PPGS结果后，完成了此初步调查，我们的目标是增加 与新测序小组合作，有2,400名参与者。 在此提案中，我们提出了一个计划和方法，以建立我们的项目基础。我们将 扩大机会自愿进行排序，以包括代表不足的潜在参与者 通过提供教育计划，包括在几个历史悠久的黑人机构中进行排序。 我们将随着时间的推移进行基于Web的调查，并通过包括 选定个人的定性访谈。作为大多数的首次纵向队列研究 接受PPG的健康成年人，我们将广泛评估PPG的拟议风险和益处， 包括对医疗保健利用，心理影响和与健康有关的短期和长期影响 结果。我们将确定获得了哪种随访临床护理（以及如何涵盖它 财务上），并评估它是否在医学上是有益的。我们研究的发现将为准备准备 随着越来越多的人寻求并反应DNA测序，医疗保健系统。此外，我们将收集 有关同意参与者的实际基因组报告，并将表征临床的数量和性质 重要的发现。我们将将这些基因组信息与有关后续行动的调查数据结合在一起 探索PPG的潜力提供临床上有用的信息，以帮助预防和健康 管理。