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.

中文翻译：

---

在复杂儿科患者的前瞻性与历史队列中进行基因组测序的成本效益分析。

目的

由于缺乏明确的比较队列，在诊断患有遗传病的儿童中对一线基因组测序 (GS) 的成本效益评估受到限制。我们试图与匹配的历史队列相比，评估早期 GS 在患有复杂单基因疾病的儿科患者中的成本效益。

方法

包括调查费用在内的数据是在 18 个月（2016-2017 年）内接受单胎 GS 的 92 名儿科患者的前瞻性队列中收集的，这些患者具有以下两种情况：高死亡率、涉及三个或更多器官的多系统疾病、或日常功能严重受限。在 2012-2013 年接受传统调查的匹配历史队列中收集比较数据。

结果

GS 的诊断率为 42%，而传统调查的诊断率为 23%（p  = 0.003）。74% 的 GS 诊断患者经历了管理变化，而传统调查诊断为 32%。Singleton GS 的成本为 3100 澳元，平均每人节省 3602 澳元（95% 置信区间 [CI] 2520-4685 澳元）。所有调查亚型都节省了成本，并且仅被临床管理成本所抵消。

结论

复杂儿科患者的 GS 可节省大量成本，并使传统方法的诊断率翻倍。