中国新生儿耳聋基因筛查作为公共卫生干预措施的经济评估:一项模型研究

Jun-Tao Shu, Yuan-Yuan Gu, Pei-Yao Zhai, Cheng Wen, Min Qian, You-Jia Wu, Xun Zhuang, Qi Zhu, Lu-Ping Zhang, Shan Jiang, Xiao-Mo Wang, Yin-Hua Jiang, Li-Hui Huang, Gang Qin
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摘要

虽然全球新生儿听力筛查项目(NHSP)远未达到最佳水平,但听力和基因联合筛查已成为早期医疗干预的创新方法。我们建立了一个决策树模型,模拟了一个假设的 1000 万中国新生儿群体一生中的三种策略:(1)不筛查;(2)NHSP(标准筛查);(3)NHSP+NDGS(联合筛查)。永久性先天性听力损失(PCHL)和基因突变在出生时就已确定,并在所有策略中保持不变。输入参数来自聋基因筛查队列研究和文献综述。基因筛查的政府合同价格为每名儿童 77 美元。相关结果包括早期诊断的 PCHL、语前聋、全聋、特殊教育转诊、增量成本效益比 (ICER) 和效益成本比 (BCR)。与标准筛查相比,联合筛查使早期发现的 PCHL 病例增加了 9112 例(28.0%),避免了 4071 例(66.9%)语前聋和 3977 例(15.6%)特殊教育转诊。从医疗保健部门的角度来看,联合筛查的 ICER 和 BCR 分别为 4995 美元/残疾调整生命年(95% 不确定区间为 2963 至 9265)和 1.78(1.19 至 2.39)。从社会角度来看,联合筛查在标准筛查中占主导地位。我们的研究结果对中国在全国范围内 "扩大 "基因筛查具有特别的意义。该模型可作为其他国家听力筛查策略以及其他疾病基因筛查的可行范例。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Economic evaluation of newborn deafness gene screening as a public health intervention in China: a modelling study
While global newborn hearing screening programmes (NHSP) are far from the optimal level, the combined hearing and genetic screening has emerged as an innovative approach of early healthcare interventions. There is a clear need for economic evaluation to establish whether newborn deafness gene screening (NDGS), currently mandated by many cities in China, is a good investment.A decision-tree model was constructed to simulate a hypothetical 10-million Chinese newborn cohort over a lifetime with three strategies: (1) no screening, (2) NHSP (standard screening) and (3) NHSP+NDGS (combined screening). The presence of permanent congenital hearing loss (PCHL) and genetic mutation were assigned at birth and held constant for all strategies. Input parameters were obtained from the Cohort of Deafness-gene Screening study and literature review. The government contract price for genetic screening was US$77/child. Outcomes of interest included the number of early diagnosed PCHL, prelingual deafness, total deafness, special education referral, incremental cost-effectiveness ratio (ICER) and benefit–cost ratio (BCR).Both standard and combined screening strategies were more effective and more costly than ‘no screening’. Compared with standard screening, combined screening led to 9112 (28.0%) more PCHL cases early detected, avoiding 4071 (66.9%) prelingual deafness cases and 3977 (15.6%) special education referrals. The ICER and BCR for combined screening were US$ 4995/disability-adjusted life-year (95% uncertainty interval, 2963 to 9265) and 1.78 (1.19 to 2.39), from healthcare sector perspective. Combined screening would dominate standard screening from societal perspective. Moreover, it remained cost-effective even in pessimistic scenarios.Our findings have particular implication for the ‘scale-up’ of genetic screening at the national level in China. The model may serve as a feasible example for hearing screening strategies in other countries, as well as genetic screening for other diseases.
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