Returning Exome and Whole Genome Sequencing Results

返回外显子组和全基因组测序结果

基本信息

批准号：
9761557
负责人：
Joon-Ho Yu
金额：
$ 23.72万
依托单位：
UNIVERSITY OF WASHINGTON
依托单位国家：
美国
项目类别：
财政年份：
2017
资助国家：
美国
起止时间：
2017-09-07 至 2022-06-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/9761557
关键词：
Address Adult African American American Anthropology Anxiety Asian Americans Attitude Behavioral Bioethics Bioethics Consultants Categories Clinical Clinical Research Clinical Services Communities Complex Conceptions Data Databases Decision Making Development Disease Ensure Ethics Ethnic group European Focus Groups Foundations Genetic Genetic Research Genetic Risk Genome Genomic medicine Genomics Health Health Care Research Health Care Surveys Health Personnel Healthcare Hispanics Incidental Findings Individual Institution Interview Knowledge Latino Learning Life Style Medicine Mendelian disorder Mental Depression Mentors Methods Minority Minority Participation Modeling Morehouse School of Medicine Motivation Native Hawaiian Outcome Outcome Study Pacific Island Americans Participant Patients Phase Policies Population Postdoctoral Fellow Procedures Process Public Health Publications Race Research Research Personnel Research Project Grants Research Subjects Respondent Risk Role Sampling Social Sciences Spirituality Surveys Technology Testing Training Translations Trust Underserved Population Validity and Reliability Variant Work base biobank career clinical sequencing cohort commercialization cost effective ethnic diversity ethnic identity ethnic minority population exome exome sequencing expectation experience gene discovery genetic information genetic risk factor genome sequencing health care service utilization healthcare community innovation instrument interest minority communities minority health parity precision genetics preference psychosocial public health relevance racial and ethnic racial diversity racial minority rapid growth recruit skills solidarity time use tool trait underserved minority web-based tool whole genome

项目摘要

DESCRIPTION (provided by applicant): Exome sequencing (ES) and whole genome sequencing (WGS) are transformative new tools for discovery of genetic risk factors for both rare and common diseases and offer the potential of personalized genetic risk profiling in a single, cost-effective test. Because of the large number of variant results simultaneously identified, the number of results with potential clinical utility-including those that are unanticipated, and the evolving utility of results over time-use of these technologies challenges existing models of returning results to research subjects and patients. This has generated widespread interest in developing and testing innovative strategies for returning results from ES/WGS studies. Almost all strategies currently being studied, however, focus on returning results to European Americans-despite evidence of differences among racial and ethnic groups for preferences for results, the interpretation of clinical utility, and the impact of receiving geetic results. This situation reflects the broader challenge of involving racial and ethnic minority communities in genetic research in order to ensure parity in the benefits of advances in genomic medicine. Accordingly, it is imperative that we understand the attitudes and preferences of racial and ethnic minorities toward genomic research and specifically return of ES/WGS results, and assess the outcome of receiving ES/WGS and its impact on minority participation. I am choosing to devote my career to further the ethical and scientific translation of genomics to benefit all people, especially underserved racial and ethnic minorities. Through formal training at leading research institutions, mentored research and publications with experts in their respective fields, I will capitalize on my prior training in public health genetics and complete my transition to an independent investigator by (1) acquiring skills in quantitative survey development, conduct, and analysis; (2) acquire skills to work with culturally diverse racial and ethnic minority communities to conduct collaborative research; and (3) broaden my understanding of theoretical and empirical work on group harms and benefits from bioethics, anthropology and the social sciences. To compliment my formal training, I will utilize these skills to conduct two mentored research projects including (1) a survey of healthcare providers and community leaders who serve racial and ethnic minority communities and (2) focus groups with racially and ethnically diverse adults, about participation in genetic research and return of ES/WGS results. In the independent phase of this proposal, I will (1) characterize and describe attitudes of underserved populations toward return of ES/WGS results by using a survey and (2) characterize individual preferences for receiving ES/WGS incidental finding through interviews with participants who are using a newly developed web-based tool called My46. Also using this tool, I will (3) study the outcomes of returning ES/WGS incidental findings to a cohort of African American individuals.

描述（由申请人提供）：外显子测序（ES）和整个基因组测序（WGS）是为罕见和常见疾病发现遗传危险因素的变革性新工具，并在单个成本效益测试中提供了个性化遗传风险分析的潜力。由于同时确定了大量变异结果，因此具有潜在的临床公用事业的结果数量，包括意外情况，以及这些技术的结果随着时间使用的结果的不断发展的实用性挑战了现有的返回结果模型，以对研究对象和患者进行返回的结果。这引起了人们对开发和测试创新策略的广泛兴趣，以回归ES/WGS研究的结果。然而，几乎所有目前正在研究的策略都集中在返回欧洲人的结果上，尽管证据证明了种族和族裔群体之间差异的偏好，对结果的偏好，临床效用的解释以及获得GEETIC结果的影响。这种情况反映了使种族和少数民族社区参与遗传研究的更广泛挑战，以确保基因组医学进步的益处的均等。因此，我们必须了解种族和少数民族对基因组研究，特别是ES/WGS结果的回报的态度和偏好，并评估接受ES/WGS的结果及其对少数群体参与的影响。我选择将自己的职业发展促进基因组学的道德和科学翻译，以使所有人，尤其是服务不足的种族和少数民族。通过正式培训领先的研究机构，指导研究和与各自领域的专家的出版物，我将利用我先前在公共卫生遗传学方面的培训，并完成我的通过（1）获取定量调查开发，行为和分析方面的技能过渡到独立研究者；（2）获得与文化多样化的种族和少数民族社区合作的技能，以进行合作研究；（3）扩大我对生物伦理学，人类学和社会科学的群体危害和利益的理论和经验工作的理解。为了称赞我的正式培训，我将利用这些技能为了开展两个有指导的研究项目，包括（1）对服务种族和族裔少数民族社区的医疗保健提供者和社区领袖的调查，以及（2）具有种族和种族多元化成年人的焦点小组，涉及参与ES/WGS结果的遗传研究和回报。在本提案的独立阶段，我将（1）通过使用调查来表征和描述服务不足的人群对ES/WGS结果返回的态度，并且（2）通过对使用新开发的基于Web的工具的参与者的访谈来表征接收ES/WGS偶然发现的个体偏好。另外，我将（3）研究将ES/WGS偶然发现的结果研究。