Yeung Alison, Tan Natalie B, Tan Tiong Y, Stark Zornitza, Brown Natasha, Hunter Matthew F, Delatycki Martin, Stutterd Chloe, Savarirayan Ravi, Mcgillivray George, Stapleton Rachel, Kumble Smitha, Downie Lilian, Regan Matthew, Lunke Sebastian, Chong Belinda, Phelan Dean, Brett Gemma R, Jarmolowicz Anna, Prawer Yael, Valente Giulia, Smagarinsky Yana, Martyn Melissa, McEwan Callum, Goranitis Ilias, Gaff Clara, White Susan M
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
Melbourne Genomics Health Alliance, Melbourne, Australia.
Genet Med. 2020 Dec;22(12):1986-1993. doi: 10.1038/s41436-020-0929-8. Epub 2020 Aug 10.
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.
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.
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.
GS in complex pediatric patients saves significant costs and doubles the diagnostic yield of traditional approaches.
一线基因组测序（GS）在遗传性疾病患儿诊断中的成本效益评估因缺乏明确的对照队列而受到限制。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。
在一个前瞻性队列中收集数据，包括调查成本，该队列中有92名儿科患者在18个月期间（2016 - 2017年）接受了单例GS检测，这些患者患有以下两种情况之一：高死亡率疾病、涉及三个或更多器官的多系统疾病或日常功能严重受限。对照数据收集自2012 - 2013年接受传统检查的匹配历史队列。
GS诊断出42%的病例，而传统检查诊断出23%的病例（p = 0.003）。接受GS诊断的患者中有74%的治疗方案发生了改变，而接受传统检查诊断的患者中这一比例为32%。成本为3100澳元的单例GS检测使人均节省3602澳元（95%置信区间[CI]为2520 - 4685澳元）。所有检查亚型均实现了成本节约，且仅被临床管理成本轻微抵消。
在复杂儿科患者中进行GS检测可显著节省成本，并使传统方法的诊断率提高一倍。
