Evaluating the Risks and Benefits of the Next Generation of Direct-to-Consumer Genetic Tests

评估下一代直接面向消费者的基因测试的风险和收益

• 批准号: 10678974
• 负责人: Madison K Kilbride
• 金额: $ 17.32万
• 依托单位: UNIVERSITY OF UTAH
• 依托单位国家: 美国
• 财政年份: 2020
• 资助国家: 美国
• 起止时间: 2020-09-01 至 2024-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10678974
• 关键词: Address; Affective; BRCA1 gene; Behavioral; Benefits and Risks; Clinical; Cognitive; Color; Coupled; DNA sequencing; Data; Data Collection; Development; Disclosure; Disease; Disease susceptibility; Distress; Ethics; Evaluation; Future; General Population; Generations; Genes; Genetic; Genetic Diseases; Genomics; Goals; Growth; Health; Health behavior; Heart Diseases; Human Genetics; Individual; Informal Social Control; Intervention; Interview; Knowledge; Laws; Life; Literature; Malignant Neoplasms; Malignant neoplasm of ovary; Marketing; Measures; Medical; Mentored Research Scientist Development Award; Mentors; Methods; Mutation; Oncogenes; Outcome; Outcome Assessment; Outcome Study; Participant; Penetrance; Policies; Policy Maker; Procedures; Process; Publishing; Qualitative Research; Research; Research Methodology; Research Personnel; Risk; Risk Estimate; Scholarship; Structure; Surveys; Susceptibility Gene; Technology; Test Result; Testing; Training; Uncertainty; Writing; adverse outcome; career; cost; disorder risk; ethical, legal, and social implication; evidence base; experience; gene panel; genetic information; genetic testing; insight; instrument; interest; malignant breast neoplasm; multidisciplinary; next generation; novel; novel strategies; policy recommendation; primary outcome; programs; psychosocial; recruit; skills; success; theories

PROJECT SUMMARY/ABSTRACT The declining cost of DNA sequencing, coupled with the public's growing interest in personal genomics, has spurred the growth of direct-to-consumer (DTC) genetic testing for health risks. Today, several DTC companies offer tests that include high- and moderate-penetrance genes that are associated with a significantly increased risk of developing certain diseases. While the availability of these tests may benefit consumers by broadening access to potentially life-saving genetic information, widespread access also poses physical and psychosocial risks. Despite these risks, there is a lack of research on DTC genetic tests that have significant implications for disease risk. But in order to evaluate the risks and benefits of current DTC offerings, a new approach to studying DTC outcomes is critically needed. The reason is that, in the past, academic researchers partnered with companies to study DTC outcomes. Today, DTC companies are less willing to partner with academics, instead preferring to conduct their own research in-house. To meet this need, the proposed K01 Award will assess the feasibility of and optimize a novel approach to studying DTC outcomes—the DTC Outcomes Evaluation Paradigm. This paradigm is novel because it: (1) does not rely on partnering with a DTC company and (2) can be used to study a wide range of current and future DTC tests and companies. To assess the feasibility of this paradigm—while concurrently addressing the lack of data for DTC genetic tests that analyze high- and moderate- penetrance disease susceptibility genes—the proposed K01 Award will recruit individuals to undergo a DTC genetic test that sequences 60 cancer and cardiac disease susceptibility genes. The aims of the proposed research are: Aim 1: To assess the feasibility of and optimize the DTC Outcomes Evaluation Paradigm for studying real-world DTC outcomes. Aim 2: To obtain initial cognitive, affective, and behavioral short-term and 6-month data through four surveys taken by individuals undergoing a DTC genetic test for cancer and cardiac disease susceptibility genes. Aim 3: To use semi-structured qualitative interviews to further understand participants' experiences undergoing DTC genetic testing in order to identify novel constructs not captured by quantitative instruments. The candidate's career goals are: (1) to pursue an academic career in the ELSI of genetics and genomics by establishing an independent research program that incorporates quantitative and qualitative research methods and conceptual analysis; (2) to publish high-impact scholarship that engages an interdisciplinary audience of scholars, policy makers, and the general public; and (3) to inform public discourse about genetic testing and develop evidence-based policy recommendations that promote the safe and ethical use of DTC genetic tests. Throughout the K01 Award period, the candidate will, in conjunction with mentored research, pursue formal coursework in research methods, human genetics, and health law and regulatory policy. The candidate will also pursue professional development activities, with an emphasis on developing collaborative relationships with an interdisciplinary network of scholars, disseminating research, and writing an R01.

项目摘要/摘要 DNA测序成本的下降，加上公众对个人基因组学日益增长的兴趣，已经 刺激了直接面向消费者(DTC)的健康风险基因测试的增长。今天，几家DTC公司 提供包括高和中等外显性基因的测试，这些基因与显著增加的 患上某些疾病的风险。虽然这些测试的可用性可能会通过扩大 获得可能挽救生命的遗传信息，广泛获得也会造成身体和心理社会 风险。尽管存在这些风险，但缺乏对DTC基因测试具有重大影响的研究 疾病风险。但为了评估当前DTC产品的风险和收益，研究一种新的方法 DTC的结果是迫切需要的。原因是，在过去，学术研究人员与 公司研究DTC结果。如今，DTC公司转而不太愿意与学术界合作 更愿意在内部进行自己的研究。为配合这方面的需要，建议的K01奖励计划将评选 一种研究直接TC结果的新方法--DTC结果评价的可行性及优化 范例。这种模式是新颖的，因为它：(1)不依赖于与DTC公司合作，(2)可以 用于研究当前和未来的DTC测试和公司的广泛范围。为了评估这一点的可行性 范式-同时解决了分析高水平和中等水平的DTC基因测试缺乏数据的问题- 外显性疾病易感基因-建议的K01奖将招募个人接受DTC 对60个癌症和心脏疾病易感基因进行测序的基因测试。建议的目标是 研究内容为：目标1：评估和优化直接技术转换成果评价范式的可行性 研究真实世界的DTC结果。目标2：获得最初的认知、情感和行为的短期和 接受DTC癌症和心脏基因测试的个人通过四次调查获得的6个月数据 疾病易感基因。目标3：使用半结构定性访谈进一步了解 参与者接受DTC基因测试以识别未被捕获的新结构的经验 量化工具。应聘者的职业目标是：(1)在英语系从事学术工作 遗传学和基因组学通过建立一个独立的研究计划，该计划结合了定量和 质的研究方法和概念分析；(2)出版影响较大的学术论文 学者、政策制定者和公众的跨学科受众；以及(3)为公众话语提供信息 关于基因检测并制定基于证据的政策建议，以促进安全和道德 DTC基因检测的使用。在整个K01颁奖期间，候选人将与被指导 研究，在研究方法、人类遗传学、卫生法律和监管政策方面进行正式课程。 候选人还将从事职业发展活动，重点是发展协作性 与跨学科学者网络的关系，传播研究，并撰写R01。