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.

项目摘要 支付者覆盖率和经济价值仍然是决定基因组药物是否 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 现在出现的，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)将用于筛查和早期发现无症状人群， 管理患有病症的患者，以及（B）使用不太透明的方法，例如算法评分， 建立遗传标记和疾病之间的联系。 我们的目标是评估付款人的保险决策和两种类型的保险的经济价值。 用于疾病管理和筛查的新兴基因组检测：无细胞DNA检测（cfDNA） 以及基于多基因风险评分（PRS）的测试。具体目标是： 目的1：检查涵盖哪些cfDNA和PRS检测，以及为什么使用（a）系统性证据审查 付款人保险政策和（B）与付款人进行结构化访谈，了解他们如何考虑证据并做出 覆盖决定。 目的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， 解决关键的方法学挑战，并找出证据方面的差距。 目标3：比较支付者覆盖范围（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， 考虑到患者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 经济价值。所有目标都将围绕我们的研究结果对患者访问的影响， 在快速变化的医疗保健政策中考虑利益相关者的观点， 交付生态系统。研究结果将确定决定积极覆盖率的关键因素， 需要，以及如何优先制定适当的覆盖范围和价值评估，患者如何- 集中和先进的建模方法可以应用于整个临床场景，以及如何覆盖和 价值评估可以考虑到患者的可及性和差异以及不同利益攸关方的观点。 研究结果将有助于实现系统地制定做法和政策的总体目标 适当、有效和公平，无论测试是否被涵盖或显示具有 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 和实践，这将有助于患者有适当的，有效的获得测试。