PRECISIONheor, Los Angeles, CA.
Illumina, Inc, San Diego, CA.
Genet Med. 2022 Jan;24(1):109-118. doi: 10.1016/j.gim.2021.08.015. Epub 2021 Nov 30.
To estimate the cost-effectiveness of genome sequencing (GS) for diagnosing critically ill infants and noncritically ill pediatric patients (children) with suspected rare genetic diseases from a United States health sector perspective.
A decision-analytic model was developed to simulate the diagnostic trajectory of patients. Parameter estimates were derived from a targeted literature review and meta-analysis. The model simulated clinical and economic outcomes associated with 3 diagnostic pathways: (1) standard diagnostic care, (2) GS, and (3) standard diagnostic care followed by GS.
For children, costs of GS ($7284) were similar to that of standard care ($7355) and lower than that of standard care followed by GS pathways ($12,030). In critically ill infants, when cost estimates were based on the length of stay in the neonatal intensive care unit, the lowest cost pathway was GS ($209,472). When only diagnostic test costs were included, the cost per diagnosis was $17,940 for standard, $17,019 for GS, and $20,255 for standard care followed by GS.
The results of this economic model suggest that GS may be cost neutral or possibly cost saving as a first line diagnostic tool for children and critically ill infants.
从美国卫生部门的角度出发，评估对疑似患有罕见遗传性疾病的危重症婴儿和非危重症儿科患者（儿童）进行基因组测序（GS）诊断的成本效益。
开发了一个决策分析模型来模拟患者的诊断轨迹。参数估计值来自有针对性的文献回顾和荟萃分析。该模型模拟了与 3 种诊断途径相关的临床和经济结果：（1）标准诊断护理，（2）GS，以及（3）标准诊断护理后进行 GS。
对于儿童，GS 的成本（7284 美元）与标准护理（7355 美元）相似，低于标准护理后进行 GS 的途径（12030 美元）。在危重症婴儿中，当基于新生儿重症监护病房的住院时间来估算成本时，成本最低的途径是 GS（209472 美元）。当仅包括诊断测试成本时，标准护理的每个诊断的成本为 17940 美元，GS 为 17019 美元，标准护理后进行 GS 为 20255 美元。
该经济模型的结果表明，GS 可能作为儿童和危重症婴儿的一线诊断工具具有成本中性或节省成本的潜力。
