Aligning policy and healthcare services with Veterans' values and preferences for results from Whole Genome Sequencing

在过去的十年里，基因组医学已经从单基因检测迅速扩展到包括下一步- 世代测序(NGS)测试，如全基因组测序(WGS)，揭示了广泛的 基因组信息。在同一时间段，基因组测序的技术成本从 从2003年的3000多万美元增加到2016年的1000多万美元。弗吉尼亚州和国家正在做出重要的贡献 对研究基础设施的投资需要加快将新的基因组技术转化为 支持个性化医疗保健，风险评估、诊断、预后和治疗由 一个人的基因组学。退伍军人基因组医学计划的百万退伍军人计划(MVP)于2009年启动 2015年启动的2.15亿美元的国家精准医学计划预计将进一步加快 个性化医疗保健中的基因组发现和翻译。与国家精准医学同步发展 作为这一倡议的一部分，退伍军人管理局正在制定策略，向下一个500,000人发布基因组分析结果 将参加MVP队列和WGS以及其他基于基因组测试的退伍军人开始 在研究之外，用于在退伍军人管理局的临床环境中告知疾病风险、诊断和治疗。 与政府和公众对支持NGS的应用潜力的热情并驾齐驱， 就基因组信息量而言，WGS能够传递的信息与WGS之间存在巨大差距 什么结果可以被解读为患者会觉得有意义。其中一个挑战是 WGS信息，将包括与测试的原始目的无关的结果，以及具有 在预防、诊断和治疗疾病方面的不确定意义。随着WGS和其他工具的出现， 在退伍军人中进行基于基因组的测试，迫切需要了解退伍军人认为 在他们的医疗保健中很重要。然而，退伍军人管理局领导层几乎没有系统的量化信息。 关于退伍军人如何评估WGS信息的价值或他们对 医疗服务需要解释这些发现及其对健康和医疗保健的影响。 拟议的项目是及时的，解决了退伍军人偏好和选择方面的巨大差距 利用在关键时刻接触退伍军人和退伍军人高管等关键退伍军人利益相关者的机会 当新技术的引入需要适应临床实践时。在这个项目中，我们的 目标是为理解1)退伍军人如何评价WGS和其他机构的调查结果奠定基础 NGS支持的测试；2)退伍军人更喜欢哪些医疗服务来帮助他们了解信息 这些测试并在他们的医疗保健中使用这些结果；以及3)退伍军人管理局临床领导者和政策制定者如何使用 了解退伍军人在发展临床服务时对WGS的价值观和偏好 纳入来自WGS和其他基于基因组的测试的信息。 为了实现项目的目标，我们使用了顺序混合方法(定性-定量-定性)。 我们将使用焦点小组和结构化认知来确定退伍军人对WGS的价值观和偏好 采访退伍军人，然后使用基于选择的方法对退伍军人的偏好进行全国人口调查 联合分析。为了翻译退伍军人偏好的调查结果，我们将进行便利的审议 流程小组与退伍军人管理局领导人讨论退伍军人的观点如何影响退伍军人政策 临床基因组学。 这个项目是创新的。其严谨的设计和强大的利益相关者参与方法预计将 为临床基因组医学中以退伍军人为中心的护理做出贡献。此外，这些发现将与以下方面高度相关 关于如何将WGS和其他基于基因组的测试结果披露给 退伍军人。

Over the past decade, genomic medicine has rapidly expanded from single gene testing to include next- generation sequencing (NGS) tests, such as Whole Genome Sequencing (WGS), that reveal extensive genomic information. During this same time period, the technical cost of sequencing a genome has fallen from over $30 million in 2003 to approximately $1,000 in 2016. VA and the nation are making significant investments in the research infrastructure needed to accelerate the translation of new genomic technologies to support personalized healthcare where risk assessment, diagnosis, prognosis, and treatment are informed by a person's genomics. The VA Genomic Medicine Program's Million Veterans Program (MVP) initiated in 2009 and the national $215 million Precision Medicine Initiative launched in 2015 are expected to further speed genomic discoveries and translation in personalized healthcare. In step with the national Precision Medicine Initiative, the VA is developing strategies to release the results of genomic analyses to the next 500,000 Veterans who will be enrolled in the MVP cohort and WGS and other genome-based testing is beginning to be used beyond research, to inform disease risk, diagnosis, and treatment, in VA clinical settings. Juxtaposed with government and public enthusiasm for the potential of NGS enabled applications, a substantial gap exists between what WGS can deliver in terms of the quantity of genomic information, and what results can be interpreted that patients would find meaningful. One of the challenges is the complexity of WGS information that will include findings unrelated to the original purpose of testing and results that have uncertain significance in preventing, diagnosing, and treating disease. With emerging use of WGS and other genome-based testing in VA, there is an urgent need to understand what information Veterans think would be important in their healthcare. However, little systematic quantitative information is available for VA leadership decision making on how Veterans would assess the value of WGS information, or their preferences for the healthcare services needed to interpret the findings and their implications for health and healthcare. The proposed project is timely, addressing a significant gap in knowledge of Veterans' preferences and taking advantage of an opportunity to engage key VA stakeholders--Veterans and VA executives--at a critical moment when the introduction of new technologies will require the adaptation of clinical practices. In this project, our goal is to establish a foundation for understanding 1) how Veterans value the findings from WGS and other NGS enabled tests; 2) what healthcare services Veterans prefer to help them comprehend the information from these tests and to use the findings in their healthcare; and 3) how VA clinical leaders and policy makers use knowledge of Veterans' values and preferences for WGS in their development of clinical services that incorporate information from WGS and other genome-based tests. To accomplish the aims of the project, we used sequential mixed methods (qualitative-quantitative-qualitative). We will identify Veterans' values and preferences for WGS using focus groups and structured cognitive interviews and then conduct a national population-based survey of Veterans' preferences using choice-based conjoint analysis. To translate findings on Veterans' preferences, we will conduct facilitated deliberative process groups to engage VA leaders in discussion about how Veterans' perspectives can inform VA policy in clinical genomics. This project is innovative. Its rigorous design and strong stakeholder engagement methods are expected to contribute to Veteran-centered care in clinical genomic medicine. Further, the findings will be highly relevant to VA executive decision-making about how to disclose the results of WGS and other genome-based tests to Veterans.