Comparison of selection strategies for genetic testing of patients with hereditary nonpolyposis colorectal carcinoma - Effectiveness and cost-effectiveness
Comparison of selection strategies for genetic testing of patients with hereditary nonpolyposis colorectal carcinoma - Effectiveness and cost-effectiveness
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DOI：
10.1002/cncr.10910
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发表时间：
2002-11-01
期刊：
影响因子：
6.2
通讯作者：
Wilson, LS
中科院分区：
文献类型：
--
作者：
Reyes, CM;Allen, BA;Wilson, LS
背景资料。遗传性非息肉病性结直肠癌(HNPCC)的分子检测正在成为标准治疗，与无基因检测相比，它具有成本效益。然而，检测HNPCC基因携带者的最佳策略尚不清楚。方法：使用决策分析模型对四种常用检测策略检测HNPCC基因携带者的有效性和增量成本-效果进行评估。该模型从结直肠癌(CRC)患者群体开始，衡量成本、检测到的基因携带者数量和每个基因携带者检测的增量成本。结果：我们发现，只有那些符合阿姆斯特丹标准的结直肠癌先证者进行胚系测试才能检测出最少的基因携带者，并且成本最低，而所有结直肠癌患者和家族的肿瘤微卫星不稳定性(MSI)测试的成本最高，检测到的基因携带者最多。当考虑到成本效益时，混合策略(对符合阿姆斯特丹标准的人进行MSH2和MLH1测试，对符合不那么严格的修改标准的其余人进行生殖系测试，并达到MSI-High)似乎更好。混合策略每1000例结直肠癌检测59.6名突变携带者，成本远远低于全部测试策略，后者的增量成本效益为51,151美元。混合策略通常是其他策略，与阿姆斯特丹策略相比，每个检测到的基因携带者的成本效益只有6441美元。结论：将基因检测仅限于符合阿姆斯特丹标准的个人是不太有效的，因为许多基因携带者被遗漏了。然而，对所有结直肠癌患者进行肿瘤MSI-H检测，虽然有效，但费用可能高得令人望而却步。混合战略是更具成本效益的方法。
BACKGROUND. Molecular testing for hereditary nonpolyposis colorectal carcinoma (HNPCC) is becoming standard care and it is cost-effective compared with no genetic testing. However, the best strategy for detection of HNPCC gene carriers is unknown.METHODS. We use a decision analytic model to evaluate the effectiveness and incremental cost-effectiveness of four commonly used testing strategies to detect HNPCC gene carriers. The model starts with a population of colorectal carcinoma (CRC) patients and measures costs, the number of gene carriers detected, and incremental costs per gene carrier detected.RESULTS. We found that germline testing on only those CRC probands who meet the Amsterdam criteria detects the fewest gene carriers and has the lowest cost whereas tumor microsatellite instability (MSI) testing of all CRC patients and families has the highest cost and detects the most gene carriers. When cost-effectiveness is considered, the mixed strategy (MSH2 and MLH1 testing on those who meet the Amsterdam criteria and germline testing for the remainder who meet less stringent modified criteria and are MSI-High) seems superior. The mixed strategy detects 59.6 mutation carriers per 1000 CRC cases and costs much less than the test all strategy, which has an incremental cost-effectiveness of $51,151. The mixed strategy often other strategies and when compared to the Amsterdam strategy, has a cost-effectiveness of only $6441 per gene carrier detected.CONCLUSIONS. It is not very effective to limit genetic testing to only individuals who meet the Amsterdam criteria, as many gene carriers are missed. However, testing all CRC patients for tumor MSI-H, although effective, may be prohibitively expensive. A mixed strategy is the more cost-effective approach.