Office of Public Health Genomics, National Center for Chronic Disease Prevention and Health Promotion, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
Genet Med. 2010 Feb;12(2):93-104. doi: 10.1097/GIM.0b013e3181cd666c.
To estimate the cost-effectiveness of genetic testing strategies to identify Lynch syndrome among newly diagnosed patients with colorectal cancer and to offer targeted testing to relatives of patients with Lynch syndrome.
We calculated incremental costs per life-year saved for universal testing relative to no testing and age-targeted testing for strategies that use preliminary genetic tests (immunohistochemistry or microsatellite instability) of tumors followed by sequencing of mismatch repair genes. We also calculated incremental cost-effectiveness ratios for pairs of testing strategies.
Strategies to test for Lynch syndrome in newly diagnosed colorectal tumors using preliminary tests before gene sequencing have incremental cost-effectiveness ratios of <or=$45,000 per life-year saved compared with no testing and <or=$75,000 per life-year saved compared with testing restricted to patients younger than 50 years. The lowest cost testing strategies, using immunohistochemistry as a preliminary test, cost <or=$25,000 per life-year saved relative to no testing and <or=$40,000 per life-year saved relative to testing only patients younger than 50 years. Other testing strategies have incremental cost-effectiveness ratios >or=$700,000 per life-year saved relative to the lowest cost strategies. Increasing the number of relatives tested would improve cost-effectiveness.
Laboratory-based strategies using preliminary tests seem cost-effective from the US health care system perspective. Universal testing detects nearly twice as many cases of Lynch syndrome as targeting younger patients and has an incremental cost-effectiveness ratio comparable with other preventive services. This finding provides support for a recent US recommendation to offer testing for Lynch syndrome to all newly diagnosed patients with colorectal cancer.
评估基因检测策略在识别新诊断结直肠癌患者中的林奇综合征（Lynch syndrome）的成本效益，并为林奇综合征患者的亲属提供靶向检测。
我们计算了相对于不检测和年龄靶向检测，使用肿瘤初步基因检测（免疫组织化学或微卫星不稳定性）然后对错配修复基因进行测序的策略进行普遍检测的增量成本效益比。我们还计算了两对检测策略的增量成本效益比。
在新诊断的结直肠肿瘤中使用初步检测然后进行基因测序来检测林奇综合征的策略，相对于不检测，增量成本效益比<或=$45,000/每挽救 1 个生命年，相对于仅对<50 岁的患者进行检测，增量成本效益比<或=$75,000/每挽救 1 个生命年。使用免疫组织化学作为初步检测的最低成本检测策略，相对于不检测，增量成本效益比<或=$25,000/每挽救 1 个生命年，相对于仅对<50 岁的患者进行检测，增量成本效益比<或=$40,000/每挽救 1 个生命年。其他检测策略的增量成本效益比相对于最低成本策略为>或=$700,000/每挽救 1 个生命年。增加检测的亲属数量将提高成本效益。
从美国医疗保健系统的角度来看，基于实验室的策略使用初步检测似乎具有成本效益。普遍检测检测到的林奇综合征病例几乎是针对年轻患者的两倍，并且增量成本效益比与其他预防性服务相当。这一发现为美国最近提出的向所有新诊断的结直肠癌患者提供林奇综合征检测的建议提供了支持。
