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: 10055077
• 负责人: Madison K Kilbride
• 金额: $ 17.52万
• 依托单位: UNIVERSITY OF PENNSYLVANIA
• 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 2021-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10055077
• 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; Measures; Medical; Mentored Research Scientist Development Award; Mentors; Methods; Mutation; Oncogenes; Outcome; Outcome Study; Participant; Penetrance; Policies; Policy Maker; Procedures; Process; Publishing; Qualitative Research; Recommendation; Research; Research Methodology; Research Personnel; Risk; Risk Estimate; Savings; Scholarship; Structure; Surveys; Susceptibility Gene; Technology; Test Result; Testing; Training; Uncertainty; Writing; adverse outcome; base; career; cost; disorder risk; evidence base; experience; gene panel; genetic information; genetic testing; insight; instrument; interest; malignant breast neoplasm; multidisciplinary; next generation; novel; novel strategies; 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的兴趣日益浓厚， 刺激了直接面向消费者（DTC）的健康风险基因检测的增长。今天，几家DTC公司 提供测试，包括高和中度的基因，与显着增加 发展某些疾病的风险。虽然这些测试的可用性可能会使消费者受益， 虽然获得可能挽救生命的遗传信息的机会有限，但广泛获得遗传信息也会造成身体和心理上的影响， 风险尽管存在这些风险，但缺乏对DTC基因检测的研究，这些基因检测对 疾病风险。但为了评估当前DTC产品的风险和收益，一种新的研究方法 迫切需要DTC成果。原因是，在过去，学术研究人员与 公司研究DTC的结果。如今，DTC公司不太愿意与学术界合作， 他们更喜欢在内部进行研究。为了满足这一需求，拟议的K 01奖将评估 研究了一种新的DTC结局研究方法-DTC结局评价的可行性和优化 范例。这种模式是新颖的，因为它：（1）不依赖于与DTC公司的合作，（2）可以 可用于研究广泛的当前和未来的DTC测试和公司。为了评估这一点的可行性， 范式，同时解决缺乏数据的DTC基因测试，分析高-和中度- 疾病易感基因-拟议的K 01奖将招募个人接受DTC 基因测试，测序60个癌症和心脏病易感基因。建议的目标 目的1：评估DTC结局评价范式的可行性并优化DTC结局评价范式， 研究真实世界的DTC结果。目标2：获得初步的认知、情感和行为短期和 6-通过对接受DTC基因检测的癌症和心脏病患者进行的四项调查， 疾病易感基因目的3：使用半结构化定性访谈，以进一步了解 参与者经历DTC基因检测，以识别未被捕获的新结构， 量化工具。候选人的职业目标是：（1）追求在ELSI的学术生涯， 遗传学和基因组学，建立一个独立的研究计划，结合定量和 质的研究方法和概念分析;（2）出版高影响力的奖学金， 学者、政策制定者和公众的跨学科受众;（3）为公共话语提供信息 关于基因检测，并制定基于证据的政策建议，促进安全和道德的 使用DTC基因测试。在整个K 01奖励期间，候选人将与指导 研究，追求研究方法，人类遗传学，卫生法和监管政策的正式课程。 候选人还将从事专业发展活动，重点是发展合作 与学者的跨学科网络的关系，传播研究，并撰写R 01。