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

为疾病管理和筛查的新兴基因组测试的适当和有效实施建立证据基础

• 批准号: 10227393
• 负责人: KATHRYN A PHILLIPS
• 金额: $ 95.31万
• 依托单位: UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
• 依托单位国家: 美国
• 财政年份: 2021
• 资助国家: 美国
• 起止时间: 2021-07-08 至 2026-04-30
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10227393
• 关键词: Address; Adopted; Algorithms; Categories; Center for Translational Science Activities; Clinical; Clinical Services; Complex; Coronary Arteriosclerosis; Development; Disease Management; Early Diagnosis; Ecosystem; Funding; Genetic Diseases; Genetic Markers; Genomic medicine; Genomics; Government; Grant; Health Policy; Health Services Research; Industry; Interview; Malignant Neoplasms; Methodology; Methods; Modeling; Outcome Study; Patient-Focused Outcomes; Patients; Policies; Policy Analysis; Policy Research; Population; Research; Structure; Testing; United States National Institutes of Health; Work; base; cell free DNA; clinical care; clinical implementation; development policy; economic evaluation; economic outcome; economic value; evidence base; health care service organization; health economics; improved; insight; multidisciplinary; patient oriented; performance tests; personalized medicine; polygenic risk score; screening; stakeholder perspectives

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.

项目概要 付款人覆盖范围和经济价值仍然是决定基因组医学是否有效的关键因素 适当有效地实施到临床护理和卫生政策中。然而，基因组测试 现在正在出现的新兴技术对覆盖范围和价值确定提出了特别困难的挑战，因为它们 (a) 除疾病外，还将用于无症状人群的筛查和早期发现 对患有某种疾病的患者进行管理，以及（b）使用不太透明的方法，例如算法评分， 建立遗传标记与疾病之间的联系。 我们的目标是评估付款人承保决策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：游离 DNA 测试 (cfDNA) 以及基于多基因风险评分（PRS）的测试。具体目标是： 目标 1：检查涵盖哪些 cfDNA 和 PRS 测试以及为什么使用 (a) 系统证据审查 付款人承保政策以及 (b) 对付款人进行结构化访谈，了解他们如何考虑证据并做出决定 覆盖范围决定。 目标 2：通过采取以患者为中心的方法了解 cfDNA 和 PRS 测试的经济价值， 解决关键的方法挑战，并找出证据差距。 目标 3：比较付款人覆盖范围（目标 1）和经济价值评估（目标 2）的证据需求 临床场景并将我们对证据需求的发现推广到其他新兴的临床场景， 考虑患者的可及性和利益相关者的观点。 这项研究将通过检查多种临床场景以及覆盖范围和范围来提供独特的见解。 经济价值。所有目标都将围绕我们的研究结果对患者访问和治疗的影响来制定 在快速变化的医疗保健政策中的差异和对​​利益相关者观点的考虑 交付生态系统。研究结果将确定决定积极报道的关键因素，证据是什么 需要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，患者如何 以中心和先进的建模方法可以应用于临床场景，以及如何覆盖和 价值评估可以考虑患者的可及性和差异以及不同的利益相关者的观点。 研究结果将有助于系统性制定实践和政策的总体目标 无论测试是否被涵盖或被证明具有适当、有效和公平的 经济价值。我们的研究结果将对利益相关者有用，并将促进政策的制定 以及帮助患者获得适当、有效的检测机会的实践。