Assessing the Impact of DTC Genetic Testing to Inform Policy Development

描述(由申请人提供)：本申请建议评估直接提供给消费者的基因测试(DTC)的社会影响，并制定DTC监督的政策选项，以平衡促进可获得对公众健康产生积极影响的测试的好处和防止误导性声明、不适当的测试或不准确的测试结果对公众造成的伤害。 DTC基因检测对传统的基因检测传递方式提出了挑战。一些人认为，基因测试应该只在医疗保健提供者的背景下进行，DTC基因测试可能会因为不适当的测试选择、缺乏咨询和不正确的测试解释而损害消费者的利益。其他人认为，DTC基因检测可能会提高消费者对检测的认识和获得检测的机会，这些检测可以帮助他们改善健康，做出有益的治疗和生活方式决定。关于基因检测的法律或商业前景，以及DTC基因检测对消费者行为的可能影响，人们知之甚少。 支持研究以确保向公众有效和适当地翻译遗传学研究是ELSI计划的基石。人类基因组计划的成功导致了1200多种疾病的基因测试的发展。越来越多的此类测试被提供给DTC，而且进入市场的监管障碍很少。因此，在不久的将来，我们可能会看到DTC基因检测的显著增长。 国家人类基因组研究所提出了几个关于DTC基因检测的重要研究问题。该项目将提供开始回答其中一些问题所需的数据。它将对DTC环境进行全面的景观分析。它将评估针对DTC提供的特定测试的声明，并将这些声明与科学文献中的有效性和实用性证据进行比较。它将评估公众对DTC基因检测服务的认识和态度，以及使用过两种不同DTC检测的消费者的体验。最后，它将制定监督DTC基因测试的政策选择。在所有这些活动中，GPPC将作为政策制定者、媒体和公众关于DTC基因检测的专家资源。公共卫生声明该项目与美国公众的健康直接相关。基因组学的进步有很大的潜力造福公众健康，但前提是公众在知情的情况下选择是否接受基因检测，以及根据检测结果采取什么行动。最近直接面向消费者(DTC)基因检测的增长带来了问题、担忧和机遇，但人们对其影响知之甚少。实现本项目提出的具体目标，将为DTC基因检测的知情政策制定提供所需的数据和分析，并提供重要的见解，有助于确保有效地将基因研究的发现转化为有益于公众健康的发现。

DESCRIPTION (provided by applicant): This application proposes to assess the societal impact of genetic tests offered directly to consumers (DTC) and to develop policy options for DTC oversight that will balance the benefits of promoting availability of tests that can have a positive impact on public health and preventing harm to the public as a result of misleading claims, inappropriate tests, or inaccurate test results. DTC genetic testing challenges the traditional means of genetic test delivery. Some argue that genetic testing should take place only in the context of a health care provider, and that DTC genetic testing may harm consumers through inappropriate test selection, lack of counseling, and improper test interpretation. Others argue that DTC genetic testing may increase consumer awareness of, and access to, tests that can help them improve their health and make beneficial treatment and lifestyle decisions. Little is known about the legal or business landscape for genetic testing or its likely impact of DTC genetic testing on consumer behavior. Supporting research to ensure the effective and appropriate translation of genetics research to the public is a cornerstone of the ELSI program. The success of the Human Genome Project has led to the development of genetic tests for more than 1,200 diseases. A growing number of these tests are being offered DTC and there are few regulatory barriers to market entry. Therefore, we may expect to see significant growth of DTC genetic testing in the near future. The National Human Genome Research Institute has raised several significant research questions about DTC genetic testing. This project will provide the data needed to begin to answer some of these questions. It will develop a comprehensive landscape analysis of the DTC environment. It will evaluate claims for specific tests offered DTC and compare these claims to evidence of validity and utility in scientific literature. It will assess public awareness and attitudes regarding DTC genetic testing services and the experiences of consumers who have used two different DTC tests. Finally, it will develop policy options for oversight of DTC genetic testing. In all of these activities, the GPPC will serve as an expert resource for policymakers, the media and the public about DTC genetic testing. PUBLIC HEALTH REVELANCE STATEMENT This project is directly relevant to the health of the U.S. public. Advances in genomics have significant potential to benefit public health, but only if the public makes informed choices about whether to obtain genetic testing and what actions to take based on test results. The recent growth in direct-to-consumer (DTC) genetic testing presents questions, concerns, and opportunities, but little is known about its impact. Achieving the specific aims proposed of this project will provide the data and analysis needed for informed policy development for DTC genetic testing and important insights that can contribute to ensuring effective translation of discoveries in genetic research so as to benefit the public's health.