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.

项目总结/文摘