Communicating Genetic Test Results by Telephone: A Randomized Trial

描述（由申请人提供）：基因组学的基础科学进步为改善人类健康和减轻美国癌症负担提供了巨大的希望，推动了个性化医疗领域的快速发展。然而，将基因发现转化为有利于个人和人群健康的负责任和有效的应用存在许多挑战。癌症易感性基因筛查是“个性化医疗”的一种应用，已成为癌症预防的标准循证实践。鉴于对基因检测的需求日益增加以及广泛传播服务以优化人口健康效益的愿望，目前肿瘤基因检测的提供模式对广泛传播存在障碍。电话提供遗传服务是一种创新和高效的提供模式，有可能将遗传服务扩展到不同的临床系统，并解决越来越多的遗传应用进入临床实践的问题。虽然电话提供服务有潜在的优点，但也有潜在的缺点，特别是在确定阳性检测结果方面。本提案的总体目标是评估一种有效的遗传服务提供模式，电话交流，与面对面交流基因检测结果相比，心理，行为和经济结果（即风险和收益）。BRCA1/2和Lynch综合征基因检测是临床医学中最先进的循证基因组应用。因此，它们为专注于遗传服务传播和传递的转化基因组研究提供了最佳的遗传应用。我们提出了一项多中心随机试验，将电话交流与在社会人口统计学不同的临床人群中进行基因检测结果的面对面交流进行比较。由于基因组进步的前景最终取决于健康和风险行为的改变，我们的研究以健康行为的自我调节理论为指导。在目标1中，我们将评估电话披露协议的有效性，以提供与当前标准护理相同的短期结果（遗传疾病的知识和认知、心理困扰、对遗传服务的满意度、行为意图以及患者和系统成本），当面沟通基因检测结果。在目标2中，我们将比较两个分娩组12个月的结果（心理调整和健康行为表现）。在目标3中，我们将探讨患者因素（例如测试结果，种族和访问障碍），这些因素可以确定电话通信可能特别有害或特别有用的亚组。我们期望这项转化基因组研究能够为基于证据的实践指南提供信息，并有可能改变肿瘤学内外遗传服务的交付范式。鉴于可用基因检测的数量不断增加，这项研究有可能影响一个重要的和不断增长的社区患者和他们的提供者寻求遗传风险信息，以改善他们的健康。

DESCRIPTION (provided by applicant): Basic science advances in genomics have provided great promise for improving human health and reducing the burden of cancer in the United States, fueling the rapidly growing field of personalized medicine. Yet, translating gene discoveries into responsible and effective applications that benefit the health of individuals and populations presents many challenges. Genetic screening for cancer susceptibility is one application of "personalized medicine", which has become standard evidence-based practice in cancer prevention. Given the increasing demand for genetic testing and the desire to disseminate services broadly to optimize population health benefits, the current delivery model for genetic testing in oncology presents barriers to widespread dissemination. Telephone delivery of genetic services is one innovative and efficient delivery model that has the potential to expand genetic services to diverse clinical systems and address the increasing number of genetic applications entering clinical practice. While there are potential advantages to telephone delivery of services, there are also potential disadvantages, particularly in the setting of a positive test result. The overall objective of this proposal is to evaluate the psychological, behavioral and economic outcomes (i.e. risks and benefits) of an efficient delivery model of genetic services, telephone communication, as compared to in- person communication of genetic test results. BRCA1/2 and Lynch syndrome genetic testing are two of the most advanced evidence-based genomic applications available in clinical medicine. Thus, they provide optimal genetic applications for translational genomic research focused on dissemination and delivery of genetic services. We propose a multi-center randomized trial of telephone communication as compared to in- person communication of genetic test results in sociodemographically diverse clinical populations. As the promise of genomic advances ultimately depends upon change in health and risk behavior, our study is guided by the Self-Regulation Theory of Health Behavior. In Aim 1, we will evaluate the efficacy of our telephone disclosure protocol to provide equal short-term outcomes (knowledge and perceptions of genetic disease, psychological distress, and satisfaction with genetic services, behavioral intentions and patient & system costs) to the current standard-of-care, in-person communication of genetic test results. In Aim 2, we will compare 12 month outcomes (psychological adjustment and performance of health behaviors) between the two delivery arms. In Aim 3, we will explore patient factors (e.g. test result, ethnicity, and access barriers) which could identify subgroups fr which telephone communication might be particularly harmful or particularly useful. We expect this translational genomic research to inform evidence based practice guidelines and potentially change the paradigm of delivery of genetic services within, and beyond oncology. Given the rising number of available genetic tests, this research has the potential to impact a significant and growing community of patients and their providers seeking genetic risk information to improve their health.