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。目前来看，两者的好处 在没有迹象的情况下进行基因组测序的危害很大程度上是假设的。在这个不确定的 环境中，数千人已经进行了倾向性个人基因组测序 (PPGS) 通过学术研究项目或商业服务，预计还有数千个 尽快这样做。这些人中的大多数人表面上都很健康，否则不会接受 GS 由于缺乏医疗必要性，但人们对非诊断测序的兴趣和活动日益增长 目的是加强疾病预防和健康管理。早期采用者构成了一个独特的群体 在此类测试广泛普及之前值得研究的个体。我们收集了一些 这些项目纳入一个研究联盟，并试行了一项基于网络的调查，以更好地了解医学、 无迹象表明对成年人进行测序的行为和经济影响。迄今为止，已有近 1,400 人 已受邀参加我们的个人基因组测序结果 (PeopleSeq) 联盟，其中 大约 50% 的人联系参加了这项初步研究。共有 658 人拥有 在披露 PPGS 结果后完成了这项初步调查，我们的目标是添加额外的 与新的测序小组合作，吸引了 2,400 名参与者。 在这个提案中，我们提出了一个建立在我们项目基础上的计划和方法。我们将 扩大志愿测序的机会，将来自代表性不足的潜在参与者纳入其中 通过提供教育计划，包括在几家历史上黑人机构进行测序，来保护少数族裔。 我们将随着时间的推移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 的健康成年人，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、心理影响和健康相关的短期和长期影响 结果。我们将确定获得了哪些类型的后续临床护理（以及如何承保） 经济上），并评估其是否具有医疗益处。我们的研究结果将为以下准备工作提供信息 随着越来越多的人寻求 DNA 测序并对其做出反应，医疗保健系统也随之发生变化。此外，我们还会收集 关于同意参与者的实际基因组报告，并将描述临床上的数量和性质 重大发现。我们将把这些基因组信息与有关后续行动的调查数据结合起来 探索 PPGS 提供有助于预防和健康的临床有用信息的潜力 管理。