Access to Genetic Information Leveraging Innovative Technology (AGILITY) Study

项目摘要/摘要 敏捷性(利用创新技术获取遗传信息)试验将评估分层 实现精准医疗面临的挑战。这包括一支有限的遗传咨询队伍，以促进 测试决定，以及在获得基因检测方面存在的不平等。为了应对这些挑战，我们将 进行类型1混合试验，包括三个具体目标。第一个目标是让现有的临床 遗传学聊天机器人，并将其定制用于人群筛选可能导致遗传的基因变异 乳腺癌和卵巢癌综合征、林奇综合征和家族性高胆固醇血症。由于 变异的流行率和采取行动减少负面结果的选择，已经有10个基因 由美国国家医学科学院和美国医学院批准进行人群筛查 遗传学。为了验证针对目标人群的聊天机器人，我们将使用初级保健访谈中的数据 患者和提供者需要了解信息需求，以实现知情的测试决策。曾经的聊天机器人 第二个目标是进行一项虚拟实施的随机对照试验， 照顾来自不同背景的病人。我们将测试聊天机器人的非劣性与 标准的遗传咨询。我们计划招募2400名成年参与者，他们来自五个种族，民族和 佛罗里达大学卫生系统的社会经济多样化的初级保健诊所。病人将会是 如果他们在筛查条件下没有更高的风险，他们有资格参加试验。[风险较高者 将有机会接受有针对性的基因测试，这是护理的标准，并作为 描述性研究臂。]参与者将被随机分配，以了解通过临床聊天机器人或基因测试进行的测试 律师。我们的主要结果是在知情的情况下选择接受基因检测。因此，那些 拒绝测试的信息量与接受测试的人一样多。次要结果包括与考试相关的痛苦， 决策冲突，以及测试理解能力。知情选择将在决定后立即进行评估， 接受检测的人在收到结果后，所有参与者在3个月和6个月后。为了确保 敏捷试验的成功，RTI国际的调查人员将与高级副院长 佛罗里达大学的研究、初级保健提供者、患者和社区顾问委员会 卫生系统，以制定招聘、参与和留住战略。第三个目标是进行一个 临床聊天机器人作为优化遗传咨询的干预措施的实施评估 损害知情决策，并促进人口筛查。为此，我们将分析 对参与试验的参与者、遗传咨询师和初级保健提供者进行采访，使用 公认的告知执行情况的方法。敏捷性研究将提供证据支持 解决如何提供强大且可扩展的遗传咨询这一关键问题的可行解决方案 关于常规临床护理中的预测基因组学。

PROJECT SUMMARY/ABSTRACT The AGILITY (Access to Genetic Information Leveraging Innovative TechnologY) trial will assess layered challenges in realizing precision medicine. This includes a limited genetic counseling workforce to facilitate test decisions, and existing inequities in access to genetic testing. To address these challenges, we will conduct a Type1 Hybrid Trial that includes three specific aims. The first aim is to take an existing clinical genetics chatbot and tailor it for use in population screening of gene variants that can lead to Hereditary Breast and Ovarian Cancer syndromes, Lynch Syndrome, and Familial Hypercholesterolemia. Due to the prevalence of the variants and options for taking actions to reduce negative outcomes, 10 genes have been endorsed for population screening by the National Academy of Medicine and the American College of Medical Genetics. To validate the chatbot for the target population, we will use data from interviews with primary care patients and providers to learn the informational needs to achieve informed test decisions. Once the chatbot is validated, the second aim is to conduct a virtually-implemented randomized controlled trial with primary care patients from a variety of backgrounds. We will test non-inferiority of the chatbot in comparison to standard genetic counseling. We plan to enroll 2,400 adult participants from five racially, ethnically and socioeconomically diverse primary care clinics at the University of Florida Health System. Patients will be eligible to enroll in the trial if they have no higher risks for the screening conditions. [Those with higher risks will be offered the opportunity to undergo targeted genetic testing as is standard of care, and followed as a descriptive study arm.] Participants will be randomized to learn about testing via a clinical chatbot or a genetic counselor. Our primary outcome is informed choice about undergoing genetic testing. As such, those who decline testing are as informative as those who accept. Secondary outcomes include test-related distress, decisional conflict, and testing uptake. Informed choice will be assessed immediately following the decision, after receipt of results for those who accept testing, and 3 and 6 months later for all participants. To ensure success of the AGILITY Trial, investigators at RTI International will work with the Senior Associate Dean of Research, primary care providers, patients and the community advisory board at the University of Florida Health System to develop recruitment, engagement, and retention strategies. The third aim is to conduct an implementation assessment of the clinical chatbot as an intervention to optimize genetic counseling without compromising informed decision-making and to facilitate population screening. To do so, we will analyze interviews with participants, genetic counselors, and primary care providers participating in the trial, using recognized approaches to inform implementation. The AGILITY study will provide evidence in support of workable solutions to address the critical issue of how to provide robust and scalable genetic counseling around predictive genomics in routine clinical care.