Ontario Health (Quality), Toronto, ON, Canada.
Program of Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, ON, Canada.
Genet Med. 2021 Mar;23(3):451-460. doi: 10.1038/s41436-020-01012-w. Epub 2020 Oct 28.
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.
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.
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.
ES would likely be cost-saving if used earlier in the diagnostic pathway.
对于不明原因的发育障碍和多发性先天畸形患者，基因检测是常规做法。然而，目前的检测途径可能既昂贵又耗时，且诊断率较低。全基因组测序，包括外显子组测序（ES）和基因组测序（GS），可以提高诊断效果，但成本更高。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。
从公共支付者的角度出发，采用离散事件模拟进行成本效益分析。比较了涉及 ES 或 GS 的 6 种策略。报告的结果是直接医疗成本、分子诊断数量、阳性发现数量和积极治疗改变数量。
如果 ES 作为二线检测（在当前一线检测，即染色体微阵列未能提供诊断之后）使用，那么它的成本会更低，效果会更好，比标准检测（每位患者 6357 加元[95%置信区间：6179-6520]）更有效。如果 ES 在标准检测之后使用，与标准检测相比，每额外诊断一位患者，ES 的成本将增加 15228 加元。当参数和假设发生变化时，结果仍然稳健。
如果 ES 在诊断途径的早期使用，可能会节省成本。
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