Cost-effectiveness of population-wide genomic screening for Lynch syndrome in the United States.
Cost-effectiveness of population-wide genomic screening for Lynch syndrome in the United States.
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DOI：
10.1016/j.gim.2022.01.017
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发表时间：
2022-05
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--
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Lynch综合征(LS)的基因组筛查可以通过识别高危患者和建立密集的CRC筛查来预防结直肠癌(CRC)。我们在未选定的美国人群中评估了全人群LS基因组筛查与仅基于家族病史筛查的成本效益。我们开发了一个决策分析马尔可夫模型，包括癌症前期、特定阶段的结直肠癌和死亡的健康状态，并假设廉价的测试成本为200美元。我们进行了敏感度和阈值分析，以评估模型的不确定性。筛查未选定的30岁人群的LS变异导致每10万名筛查个体的总体结直肠癌病例减少48例(95%可信范围[CR]：35至63)，导致187个经质量调整的寿命年(QALY；95%CR：123至260)增加2,460万美元(95%CR：2,030万至2,910万美元)。增量成本效益比为132,200美元，在每个QALY愿意支付阈值分别为100,000美元和150,000美元时，具有成本效益的可能性分别为8%和71%。人群LS筛查在较年轻的患者人群中可能具有成本效益，低于每QALY 15万美元的愿意支付门槛，并且具有相对较低的测试成本。进一步降低检测成本和/或将LS检测纳入更广泛的多重筛查小组，才能使筛查具有极高的成本效益。
Genomic screening for Lynch syndrome (LS) could prevent colorectal cancer (CRC) by identifying high-risk patients and instituting intensive CRC screening. We estimated the cost-effectiveness of population-wide LS genomic screening versus family history-based screening alone in an unselected U.S. population. We developed a decision-analytic Markov model including health states for pre-cancer, stage-specific CRC, and death, and assumed an inexpensive test cost of $200. We conducted sensitivity and threshold analyses to evaluate model uncertainty. Screening unselected 30-year-olds for LS variants resulted in 48 (95% credible range [CR]: 35 to 63) fewer overall CRC cases per 100,000 screened individuals, leading to 187 quality-adjusted life-years (QALYs; 95% CR: 123 to 260) gained at an incremental cost of $24.6 million (95% CR: $20.3 million to $29.1 million). The incremental cost-effectiveness ratio was $132,200, with an 8% and 71% probability of being cost-effective at $100,000 and $150,000 per QALY willingness-to-pay thresholds, respectively. Population LS screening may be cost-effective in younger patient populations under a $150,000 willingness-to-pay per QALY threshold and with a relatively inexpensive test cost. Further reductions in testing costs and/or the inclusion of LS testing within a broader multiplex screening panel are needed for screening to be highly cost-effective.
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