BUILDING THE EVIDENCE BASE FOR APPROPRIATE AND EFFICIENT IMPLEMENTATION OF EMERGING GENOMIC TESTS FOR DISEASE MANAGEMENT AND SCREENING

项目摘要 支付者覆盖率和经济价值仍然是决定基因组医学是否 适当和有效地落实到临床护理和卫生政策中。然而，基因组测试是 现在正在出现的问题给覆盖范围和价值确定带来了特别困难的挑战，因为它们 (A)除用于疾病外，还将用于对无症状人群进行筛查和早期检测 对有病情的患者进行管理，以及(B)使用不太透明的方法，如算法评分，以 建立遗传标记和疾病之间的联系。 我们的目标是评估支付者覆盖决定和两种类型的经济价值 用于疾病管理和筛查的新兴基因组测试：无细胞DNA测试(CfDNA) 以及基于多基因风险评分(PR)的测试。具体目标是： 目标1：检查覆盖哪些cfDNA和prs测试，以及为什么使用(A)系统的证据审查 付款人保险政策和(B)对付款人进行有组织的访谈，了解他们如何考虑证据和制定 承保决定。 目标2：通过采取以患者为中心的方法，了解cfDNA和prs检测的经济价值， 解决关键的方法挑战，并找出证据中的差距。 目标3：比较付款人覆盖面(目标1)和经济价值评估(目标2)的证据需求 临床情景，并将我们关于证据需求的发现推广到其他新兴临床情景， 考虑患者接触和利益相关者的观点。 这项研究将通过检查多个临床情景和覆盖范围以及 经济价值。所有目标都将围绕我们的发现对患者接触和 快速变化的医疗保健政策中利益相关者观点的差异和考虑 交付生态系统。研究结果将确定决定正面报道的关键因素，证据是什么 需要什么，以及如何确定优先顺序以制定适当的覆盖范围和价值评估，以及患者- 可以跨临床场景应用以中心为中心的高级建模方法，以及覆盖和 价值评估可以考虑患者接触情况、差异和不同利益相关者的观点。 研究结果将有助于系统发展实践和政策的总体目标。 是适当的、有效的和公平的，无论测试是否被覆盖或被证明具有 经济价值。我们的发现将对利益相关者有用，并将促进政策的制定 以及将帮助患者获得适当、有效的检测机会的做法。

Project Summary Payer coverage and economic value continue to be critical factors in determining whether genomic medicine is appropriately and efficiently implemented into clinical care and health policies. However, genomic tests are now emerging that present particularly difficult challenges for coverage and value determinations because they (a) will be used for screening and early detection in asymptomatic populations in addition to disease management in patients with a condition, and (b) use less-transparent methods, such as algorithmic scores, to establish linkages between genetic markers and disease. Our objective is to assess payer coverage decisions and the economic value of two types of emerging genomic tests for disease management and screening: cell-free DNA tests (cfDNA) and tests based on polygenic risk scores (PRS). The Specific Aims are: Aim 1: Examine which cfDNA and PRS tests are covered and why using (a) systematic evidence reviews of payer coverage policies and (b) structured interviews with payers on how they consider evidence and make coverage decisions. Aim 2: Understand the economic value of cfDNA and PRS tests by taking a patient-centered approach, addressing key methodological challenges, and identifying gaps in evidence. Aim 3: Compare evidence needs for payer coverage (Aim 1) and economic value assessment (Aim 2) across clinical scenarios and generalize our findings on evidence needs to other emerging clinical scenarios, considering patient access and stakeholder perspectives. This study will provide unique insights by examining multiple clinical scenarios and both coverage and economic value. All Aims will be framed around the implications of our findings for patient access and disparities and consideration of stakeholder perspectives within a rapidly changing health care policy and delivery ecosystem. Study outcomes will identify key factors that determine positive coverage, what evidence is needed and how it can be prioritized to develop appropriate coverage and value assessments, how patient- centered and advanced modeling approaches can be applied across clinical scenarios, and how coverage and value assessments can take into account patient access and disparities and diverse stakeholder perspectives. Study findings will contribute to the overarching objectives of systematic development of practices and policies that are appropriate, efficient, and equitable irrespective of whether the tests are covered or shown to have economic value. Our findings will be useful across stakeholders and will facilitate the development of policies and practices that will help patients have appropriate, efficient access to testing.