Impact of Direct to Consumer Genetic Testing

快速识别常见、复杂疾病的遗传风险因素为公共卫生带来了巨大的机遇和挑战。遗传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的基因检测，以向消费者提供关于常见疾病的风险信息。很少有经验数据被收集来了解DTC测试消费者的特点，心理，行为和健康的影响，以及与DTC服务相关的伦理，法律的和社会问题。 在拟议的研究中，我们将调查两家提供DTC基因检测的美国领先公司（23andMe和Navigenics）的用户对常见疾病基因检测的反应，包括心脏病，糖尿病，阿尔茨海默病，关节炎，乳腺癌，结肠癌，肺癌和前列腺癌。每家公司现在都有成千上万的客户，并预计在未来几年的广泛销售。每个人都同意允许我们的小组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DTC测试的好处和风险。这些公司还同意提供基因测试信息（经受访者同意）用于分析。在收到基因检测结果前，我们将通过互联网对1000名消费者（每家公司500名）进行调查，并在收到结果后的1-2周和6个月再次对这一样本进行调查。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，生物伦理学和网络调查设计的背景。许多团队成员曾在ELSI资助的相关研究上进行过合作。我们的目标如下：1）描述谁寻求基因检测和为什么，收集人口统计学信息，寻求检测的动机和对遗传学的理解; 2）描述DTC基因检测的影响，包括心理影响，风险认知和理解，以及服务的个人效用;以及3）评估消费者在健康行为、保险变更、信息寻求以及与家人和医疗保健提供者的沟通。这项研究将产生结果，这些结果可以转化为建议，以指导这一迅速出现的领域的做法和政策。 公共卫生相关性：遗传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的基因检测，以向消费者提供关于常见疾病的风险信息。我们将调查美国两大主要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，提供关于谁订购这些测试的数据，以及为什么，以及它的好处和风险。这项研究将产生结果，这些结果可以转化为建议，以指导这一迅速出现的领域的做法和政策。

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.