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

项目摘要 阿尔茨海默病和相关痴呆(ADRD)长期以来一直困扰着临床医生、研究人员和 政策制定者是美国唯一主要的死亡原因，而不进行疾病修正治疗。 最常见和最有效的危险因素之一是载脂蛋白E基因的ε4等位基因，它具有 一直是密集研究和公众关注的焦点。而APOEε4(“APOE”)与一个 增加晚发性AD的风险，它本身并没有被发现具有临床有效性和实用性。因此， 临床指南建议不要直接面向消费者(DTC)或临床医生要求的APOE测试。在……里面 2017年，尽管缺乏推荐APOE检测的临床指南，FDA还是批准了23andMe 遗传健康风险报告，其中包括APOE测试以及其他条件和研究 显示大多数消费者重视APOE测试，并表示他们希望获得它。动态感 围绕APOE检测，包括消费者获得检测，尽管缺乏已知的临床实用程序和 将结果提供给临床护理环境之外的消费者--是一项重大挑战 我们认为，这将越来越成为一个临床、经济和政策难题。 本补编的目标将是发展概念框架和方法 审查基因检测的经济、财务/覆盖范围和政策影响的方法 ADRD风险并在以下领域进行初步分析： (1)ADRD基因检测的承保政策 (2)医生在管理提交APOE DTC测试结果的患者方面的作用 (3)ADRD基因检测的经济价值 本补充资料的重点是针对晚发性AD的APOE测试，因为它可以通过DTC获得 测试。然而，我们将把这项工作放在测试其他ADRD风险因素的更大背景下，因此 考虑一系列遗传风险变异、痴呆症类型(例如，额颞痴呆、路易体 (痴呆症)和疾病的形式(早发性与晚发性；家族性与散发性)。

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).