Cancer predictive or diagnostic assays, offered as Laboratory-Developed Tests (LDTs), have been subject to regulatory authority and enforcement discretion by the US Food and Drug Administration. Many LDTs enter the market without US Food and Drug Administration or any regulatory review. The Centers for Medicare & Medicaid Services under the Clinical Laboratory Improvement Amendments focuses on analytic performance, but has limited oversight of the quality or utility of LDTs, including whether patients have been harmed as a result of their use. Increasingly, LDTs for cancer risk or early detection have been marketed directly to consumers, with many LDT developers depicting these tests, requested by patients but ordered by personal or company-associated physicians, as procedures falling under the practice of medicine. This patchwork of regulation and enforcement uncertainty regarding LDTs and public concerns about accuracy of tests given emergency authorization during the COVID-19 pandemic led to the Verifying Accurate Leading-edge IVCT (in vitro clinical test) Development Act of 2021. This pending federal legislation represents an opportunity to harmonize regulatory policies and address growing concerns over quality, utility, and safety of LDTs for cancer genomics, including tests marketed directly to consumers. We review here questions regarding the potential benefits and harms of some cancer-related LDTs for cancer risk and presymptomatic molecular diagnosis, increasingly marketed to oncologists or directly to the worried well. We offer specific proposals to strengthen oversight of the accuracy and clinical utility of cancer genetic testing to ensure public safety.

作为实验室开发测试 (LDT) 提供的癌症预测或诊断分析已受到美国食品和药物管理局的监管和执法自由裁量权的约束。许多 LDT 未经美国食品和药物管理局或任何监管审查就进入市场。根据临床实验室改进修正案，医疗保险和医疗补助服务中心侧重于分析性能，但对 LDT 的质量或效用的监督有限，包括患者是否因其使用而受到伤害。用于癌症风险或早期检测的 LDT 越来越多地直接向消费​​者销售，许多 LDT 开发商将这些测试描述为患者要求但由个人或公司相关医生订购的测试，作为属于医学实践的程序。LDT 的监管和执法不确定性以及公众对 COVID-19 大流行期间紧急授权的测试准确性的担忧导致了 2021 年《验证准确的前沿 IVCT（体外临床测试）开发法案》的出台。这项悬而未决的联邦立法代表了这是一个协调监管政策并解决人们对癌症基因组 LDT 的质量、实用性和安全性日益增长的担忧的机会，包括直接向消费​​者销售的测试。我们在此回顾一些与癌症相关的 LDT 对癌症风险和症状前分子诊断的潜在益处和危害的问题，这些 LDT 越来越多地向肿瘤学家推销或直接向忧心忡忡的人推销。我们提出具体建议，加强对癌症基因检测准确性和临床效用的监督，以确保公共安全。