Cost-effectiveness of genome-wide sequencing for unexplained developmental disabilities and multiple congenital anomalies
Cost-effectiveness of genome-wide sequencing for unexplained developmental disabilities and multiple congenital anomalies
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DOI：
10.1038/s41436-020-01012-w
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发表时间：
2020-10-28
影响因子：
8.8
通讯作者：
Ng, Vivian
中科院分区：
文献类型：
--
作者：
Li, Chunmei;Vandersluis, Stacey;Ng, Vivian
目的基因检测是对不明原因发育障碍和多种先天性异常患者的常规检查。然而，目前的检测途径既昂贵又耗时，而且诊断率很低。全基因组测序，包括外显子组测序（ES）和基因组测序（GS），可以改善诊断，但成本较高。本研究旨在评估加拿大安大略省全基因组测序的成本效益。方法从公共支付方角度出发，采用离散事件模拟进行成本-效果分析。比较了6种涉及ES或GS的策略。报告的结果包括直接医疗费用、分子诊断数量、阳性结果数量和积极治疗变化数量。如果ES被用作第二级检测（在目前的第一级检测，染色体微阵列，未能提供诊断之后），它将比标准检测成本更低，更有效（6357加元[95% CI: 6179-6520] vs. 8783加元[95% CI: 2309-31,123]）。如果在标准检测后使用ES，与标准检测相比，每增加一名患者的基因诊断将额外花费15228加元。当参数和假设发生变化时，结果仍然是稳健的。结论早期应用ES有可能节省成本。
Purpose Genetic testing is routine practice for individuals with unexplained developmental disabilities and multiple congenital anomalies. However, current testing pathways can be costly and time consuming, and the diagnostic yield low. Genome-wide sequencing, including exome sequencing (ES) and genome sequencing (GS), can improve diagnosis, but at a higher cost. This study aimed to assess the cost-effectiveness of genome-wide sequencing in Ontario, Canada. Methods A cost-effectiveness analysis was conducted using a discrete event simulation from a public payer perspective. Six strategies involving ES or GS were compared. Outcomes reported were direct medical costs, number of molecular diagnoses, number of positive findings, and number of active treatment changes. Results If ES was used as a second-tier test (after the current first-tier, chromosomal microarray, fails to provide a diagnosis), it would be less costly and more effective than standard testing (CAN$6357 [95% CI: 6179-6520] vs. CAN$8783 per patient [95% CI: 2309-31,123]). If ES was used after standard testing, it would cost an additional CAN$15,228 to identify the genetic diagnosis for one additional patient compared with standard testing. The results remained robust when parameters and assumptions were varied. Conclusion ES would likely be cost-saving if used earlier in the diagnostic pathway.