Health Economics Group, University of Exeter Medical School, University of Exeter, Exeter, Devon, United Kingdom.
Division of Cancer Sciences, Faculty of Biology and Health, University of Manchester, Manchester, United Kingdom.
PLoS One. 2019 Aug 30;14(8):e0221419. doi: 10.1371/journal.pone.0221419. eCollection 2019.
Lynch syndrome is a hereditary cancer syndrome caused by constitutional pathogenic variants in the DNA mismatch repair (MMR) system, leading to increased risk of colorectal, endometrial and other cancers. The study aimed to identify the incremental costs and consequences of strategies to identify Lynch syndrome in women with endometrial cancer.
A decision-analytic model was developed to evaluate the relative cost-effectiveness of reflex testing strategies for identifying Lynch syndrome in women with endometrial cancer taking the NHS perspective and a lifetime horizon. Model input parameters were sourced from various published sources. Consequences were measured using quality-adjusted life years (QALYs). A cost-effectiveness threshold of £20 000/QALY was used.
Reflex testing for Lynch syndrome using MMR immunohistochemistry and MLH1 methylation testing was cost-effective versus no testing, costing £14 200 per QALY gained. There was uncertainty due to parameter imprecision, with an estimated 42% chance this strategy is not cost-effective compared with no testing. Age had a significant impact on cost-effectiveness, with testing not predicted to be cost-effective in patients aged 65 years and over.
Testing for Lynch syndrome in younger women with endometrial cancer using MMR immunohistochemistry and MLH1 methylation testing may be cost-effective. Age cut-offs may be controversial and adversely affect implementation.
林奇综合征是一种遗传性癌症综合征,由 DNA 错配修复(MMR)系统中的结构性致病性变异引起,导致结直肠癌、子宫内膜癌和其他癌症的风险增加。本研究旨在确定识别子宫内膜癌女性林奇综合征的策略的增量成本和后果。
开发了一种决策分析模型,从 NHS 角度和终生时间范围评估了识别子宫内膜癌女性林奇综合征的反射测试策略的相对成本效益。模型输入参数来自各种已发表的来源。使用质量调整生命年(QALY)来衡量结果。使用 20000 英镑/QALY 的成本效益阈值。
使用 MMR 免疫组织化学和 MLH1 甲基化测试对林奇综合征进行反射测试与不进行测试相比具有成本效益,每获得一个 QALY 的成本为 14200 英镑。由于参数不精确,存在不确定性,估计有 42%的可能性这种策略与不进行测试相比没有成本效益。年龄对成本效益有重大影响,在 65 岁及以上的患者中,测试预计不会具有成本效益。
使用 MMR 免疫组织化学和 MLH1 甲基化测试对年轻女性的子宫内膜癌进行林奇综合征检测可能具有成本效益。年龄截止值可能存在争议,并对实施产生不利影响。