Institute for Health Economics and Health Care Management, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Neuherberg, Germany.
Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, Munich, Germany.
Genet Med. 2015 Oct;17(10):765-73. doi: 10.1038/gim.2014.190. Epub 2015 Jan 8.
Lynch syndrome (LS) screening among patients with newly diagnosed colorectal cancer can decrease mortality in their affected first-degree relatives. In Germany, it is not yet clinical practice and the cost-effectiveness of different testing strategies is unknown.
We developed a decision-analytic model to analyze the cost-effectiveness of LS screening from the perspective of the German Statutory Health Insurance system. A total of 22 testing strategies considering family-history assessment, analysis of tumor samples (i.e., immunohistochemistry (IHC), microsatellite instability, and BRAF mutation testing) and genetic sequencing were analyzed. Life-years gained in relatives by closed-meshed colonoscopy and aspirin prophylaxis were estimated by Markov models. Uncertainty was assessed deterministically and probabilistically.
On average, detected mutation carriers gained 0.52 life-years (undiscounted: 1.34) by increased prevention. Most strategies were dominated, with three exceptions: family assessment by the Bethesda criteria followed by IHC and BRAF testing and genetic sequencing; IHC and BRAF testing and genetic sequencing; and direct sequencing of all index patients. Their incremental cost-effectiveness was [euro ]77,268, [euro ]253,258, and [euro ]4,188,036 per life-year gained, respectively.
The results were less favorable than those of previous models. Chemoprevention appears to provide comparably low additional benefit and improves cost-effectiveness only slightly.
对新诊断结直肠癌患者进行林奇综合征（LS）筛查，可以降低其一级亲属的死亡率。在德国，这尚未成为临床实践，不同检测策略的成本效益尚不清楚。
我们开发了一种决策分析模型，从德国法定健康保险系统的角度分析 LS 筛查的成本效益。总共分析了 22 种检测策略，包括家族史评估、肿瘤样本分析（即免疫组织化学（IHC）、微卫星不稳定性和 BRAF 突变检测）和基因测序。通过马尔可夫模型估计了通过密网结肠镜检查和阿司匹林预防在亲属中获得的生命年数。通过确定性和概率性评估来确定不确定性。
平均而言，通过增加预防措施，检测到的突变携带者获得了 0.52 个生命年（未贴现：1.34 个）。大多数策略都被主导，只有三个例外：贝塞斯达标准的家族评估，然后是 IHC 和 BRAF 检测以及基因测序；IHC 和 BRAF 检测以及基因测序；以及所有索引患者的直接测序。它们的增量成本效益分别为每获得一个生命年[欧元]77,268、[欧元]253,258 和[欧元]4,188,036。
结果不如以前的模型有利。化学预防似乎提供了相对较低的额外益处，并且仅略微提高了成本效益。
