Coverage, Price, and Reimbursement for Multigene Tests for Cancer and Related Conditions

癌症及相关疾病多基因检测的承保范围、价格和报销

• 批准号: 10119135
• 负责人: KATHRYN A PHILLIPS
• 金额: $ 34.86万
• 依托单位: UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
• 依托单位国家: 美国
• 财政年份: 2018
• 资助国家: 美国
• 起止时间: 2018-07-01 至 2022-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10119135
• 关键词: Alleles; Alzheimer' s disease related dementia; Apolipoprotein E; Area; Cancer-Related Condition; Cause of Death; Clinical; Dementia; Disease; Economic Policy; Economics; FDA approved; Frontotemporal Dementia; Genes; Genetic; Genetic Risk; Genetic testing for cancer risk; Guidelines; Health; Lewy Body Dementia; Methodology; Patients; Physician' s Role; Policies; Price; Public Health; Reporting; Research; Research Personnel; Risk; Risk Factors; Test Result; Testing; United States; Work; apolipoprotein E-4; clinical care; dementia risk; economic value; genetic testing; improved; interest; parent grant; policy implication; risk variant

Project Summary Alzheimer's Disease and Related Dementias (ADRD) have long challenged clinicians, researchers, and policymakers as the only leading causes of death in the United States without disease-modifying treatment. One of the most common and potent risk factor is the ε4 allele of the apolipoprotein E gene, APOE, which has been the focus of intense research and lay public interest. While APOEε4 (“APOE”) is associated with an increased risk for late-onset AD, on its own it has not been found to have clinical validity and utility. Thus, clinical guidelines recommend against APOE testing, either direct-to-consumer (DTC) or clinician ordered. In 2017, despite the lack of clinical guidelines recommending APOE testing, the FDA approved 23andMe's Genetic Health Risk Report, which includes testing for APOE as well as other conditions and studies have shown that a majority of consumers' value APOE testing and state they would like to obtain it. The dynamic surrounding APOE testing, including consumer access to testing despite the lack of known clinical utility and with results provided to consumers outside of the clinical care context – represents an overarching challenge that we believe will increasingly become a clinical, economic, and policy conundrum. The objective of this supplement will be to develop conceptual frameworks and methodological approaches to examine the economic, financial/coverage, and policy implications of genetic testing for ADRD risk and conduct initial analyses in the following areas: (1) Coverage policies for ADRD genetic testing (2) Role of physicians in managing patients who present their APOE DTC testing results (3) Economic value of ADRD genetic testing The particular focus of this Supplement is APOE testing for late-onset AD because of its availability via DTC testing. However, we will place this work into the larger context of testing for other ADRD risk factors and thus consider a range of genetic risk variants, dementia types (e.g., frontotemporal dementia, Lewy Body Dementia), and forms of disease (early- vs. late-onset; familial vs. sporadic).

项目概要 阿尔茨海默氏病和相关痴呆症 (ADRD) 长期以来一直对临床医生、研究人员和患者提出挑战。 政策制定者将其视为美国唯一没有疾病缓解治疗的主要死亡原因。 最常见和最有效的危险因素之一是载脂蛋白 E 基因 APOE 的 ε4 等位基因，该基因具有 一直是深入研究和公众兴趣的焦点。虽然 APOEε4 (“APOE”) 与 晚发性 AD 的风险增加，但尚未发现其本身具有临床有效性和实用性。因此， 临床指南建议不要进行 APOE 检测，无论是直接面向消费者 (DTC) 还是由临床医生订购。在 2017年，尽管缺乏推荐APOE检测的临床指南，FDA还是批准了23andMe的 遗传健康风险报告，其中包括 APOE 检测以及其他条件和研究 表明大多数消费者重视 APOE 测试并表示他们希望获得它。动态 围绕 APOE 测试，包括尽管缺乏已知的临床实用性，消费者仍然可以获得测试 在临床护理环境之外向消费者提供结果——代表了一项总体挑战 我们认为这将日益成为一个临床、经济和政策难题。 本增刊的目标是制定概念框架和方法论 审查基因检测的经济、金融/覆盖范围和政策影响的方法 ADRD 风险并在以下方面进行初步分析： （一）ADRD基因检测覆盖政策 (2) 医生在管理提交 APOE DTC 检测结果的患者中的作用 (3)ADRD基因检测的经济价值 本补充文件的特别重点是针对迟发性 AD 的 APOE 测试，因为它可以通过 DTC 获得 测试。然而，我们将把这项工作置于测试其他 ADRD 风险因素的更大背景下，从而 考虑一系列遗传风险变异、痴呆类型（例如额颞叶痴呆、路易体痴呆） 痴呆）和疾病形式（早发型与晚发型；家族性与散发性）。