Impact of Direct to Consumer Genetic Testing

描述(申请人提供)：快速识别常见、复杂疾病的遗传风险因素给公共卫生带来了巨大的机遇和挑战。基因信息越来越多地被用作商业努力的一部分，包括直接面向消费者(DTC)的基因测试，以向消费者提供常见疾病的风险信息。很少有经验数据被收集来了解DTC测试消费者的特征、心理、行为和健康影响，以及与DTC服务相关的伦理、法律和社会问题。在拟议的研究中，我们将调查两家提供DTC基因测试的领先美国公司(23andMe和Navigenics)的用户，了解他们对常见疾病的基因测试的反应，这些疾病包括心脏病、糖尿病、阿尔茨海默氏症、关节炎以及乳腺癌、结肠癌、肺癌和前列腺癌。两家公司现在都有数千名客户，每家公司都预计未来几年会有大量的销售。每家公司都同意允许我们的集团使用第三方数据收集和分析程序对消费者进行调查，这将使我们能够独立考虑以这种形式进行DTC测试的好处和风险。两家公司还同意为分析提供基因检测信息(征得受访者的许可)。在收到基因测试结果之前，我们将通过互联网对1000名消费者(每家公司500名)进行调查，我们将在收到结果后的1-2周和6个月内再次调查这一样本。为了开展拟议的研究，我们组建了一个跨学科的专家团队，他们具有医学、基因检测政策和实践、健康传播、遗传咨询、健康心理学、健康法律、生物伦理学和网络调查设计等方面的背景。许多团队成员在之前的ELSI资助的相关研究中进行了合作。我们的目标如下：1)描述谁和为什么寻求基因检测，收集有关人口统计学、寻求检测的动机和对遗传学的理解的信息；2)描述DTC基因检测的影响，包括心理影响、风险感知和理解以及个人服务效用；以及3)评估消费者在健康行为、保险变更、信息寻求以及与家庭和医疗保健提供者的沟通方面对其基因信息的处理。这项研究将产生可转化为建议的结果，以指导这一迅速崛起的领域的实践和政策。 公共卫生相关性：基因信息越来越多地被用作商业努力的一部分，包括直接面向消费者(DTC)的基因测试，以向消费者提供常见疾病的风险信息。我们将调查美国两家领先的DTC基因检测服务的客户，使用独立的第三方数据收集和分析来提供数据，了解谁订购了这些检测，为什么订购，以及它可能带来的好处和风险。这项研究将产生可转化为建议的结果，以指导这一迅速崛起的领域的实践和政策。

DESCRIPTION (provided by applicant): The rapid identification of genetic risk factors for common, complex diseases poses great opportunities and challenges for public health. Genetic information is increasingly being utilized as part of commercial efforts, including direct-to-consumer (DTC) genetic testing to provide risk information on common diseases to consumers. Very few empirical data have been gathered to understand the characteristics of DTC test consumers, the psychological, behavioral and health impact, and the ethical, legal and social issues associated with DTC services. In the proposed research, we will survey users of the two leading US companies providing DTC genetic testing (23andMe and Navigenics) regarding their response to genetic tests for common diseases of interest, including heart disease, diabetes, Alzheimer's disease, arthritis, and breast, colon, lung and prostate cancers. Each company now has thousands of customers and each anticipates extensive sales in coming years. Each has agreed to allow our group to survey consumers using third-party data collection and analysis procedures that will enable an independent consideration of the benefits and risks of DTC testing in this format. The companies have also agreed to provide genetic test information (with respondents' permission) for analyses. A total of 1000 consumers (500 from each company) will be surveyed via the Internet before receipt of genetic test results, and we will survey this sample again at 1-2 weeks and six months following receipt of results. To carry out the proposed research, we have assembled an interdisciplinary team of experts with backgrounds in medicine, genetic testing policy and practice, health communication, genetic counseling, health psychology, health law, bioethics and web survey design. Many team members have collaborated on prior, related ELSI-funded research. Our aims are as follows: 1) to describe who seeks genetic testing and why, collecting information on demographics, motivations for seeking testing, and understanding of genetics; 2) to describe the impact of DTC genetic testing, including psychological impact, risk perceptions and comprehension, and personal utility of services; and 3) to assess what consumers do with their genetic information in the domains of health behaviors, insurance changes, information seeking, and communication with family and health care providers. This study will produce results that can be translated into recommendations to guide practice and policy in this rapidly emerging area. PUBLIC HEALTH RELEVANCE: Genetic information is increasingly being utilized as part of commercial efforts, including direct-to-consumer (DTC) genetic testing to provide risk information on common diseases to consumers. We will survey customers of the two leading DTC genetic test services in the U.S., using independent third party data collection and analysis to provide data on who is ordering these tests and why, and what its benefits and risks may be. This study will produce results that can be translated into recommendations to guide practice and policy in this rapidly emerging area.