A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients
A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients
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DOI：
10.1038/s41436-020-0929-8
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发表时间：
2020-08-10
影响因子：
8.8
通讯作者：
White, Susan M.
中科院分区：
文献类型：
--
作者：
Yeung, Alison;Tan, Natalie B.;White, Susan M.
目的：由于缺乏明确的比较队列，一线基因组测序（GS）在诊断儿童遗传性疾病中的成本效益评估受到限制。我们试图评估与匹配的历史队列相比，早期GS在患有复杂单基因疾病的儿科患者中的成本效益。方法在一个前瞻性队列中收集了92例在18个月期间（2016-2017年）接受单胎GS的儿科患者的数据，包括调查成本，其中包括以下两种情况：高死亡率，涉及三个或更多器官的多系统疾病或严重的日常功能限制。在2012-2013年进行传统研究的匹配历史队列中收集了比较数据。结果GS诊断率为42%，而传统检查诊断率为23%（p = 0.003）。74%的患者在GS诊断后经历了管理的变化，而传统调查诊断的患者为32%。成本为3100澳元的单例GS导致每人平均节省3602澳元（95%置信区间[CI] 2520 -4685澳元）。所有研究子类型均实现了成本节约，临床管理成本仅最低限度地抵消了成本节约。结论GS在复杂儿科患者中节省了大量费用，并且诊断率是传统方法的两倍。
Purpose Cost-effectiveness evaluations of first-line genomic sequencing (GS) in the diagnosis of children with genetic conditions are limited by the lack of well-defined comparative cohorts. We sought to evaluate the cost-effectiveness of early GS in pediatric patients with complex monogenic conditions compared with a matched historical cohort. Methods Data, including investigation costs, were collected in a prospective cohort of 92 pediatric patients undergoing singleton GS over an 18-month period (2016-2017) with two of the following: a condition with high mortality, multisystem disease involving three or more organs, or severe limitation of daily function. Comparative data were collected in a matched historical cohort who underwent traditional investigations in the years 2012-2013. Results GS yielded a diagnosis in 42% while traditional investigations yielded a diagnosis in 23% (p = 0.003). A change in management was experienced by 74% of patients diagnosed following GS, compared with 32% diagnosed following traditional investigations. Singleton GS at a cost of AU$3100 resulted in a mean saving per person of AU$3602 (95% confidence interval [CI] AU$2520-4685). Cost savings occurred across all investigation subtypes and were only minimally offset by clinical management costs. Conclusion GS in complex pediatric patients saves significant costs and doubles the diagnostic yield of traditional approaches.