PMD57 - The Cost-Effectiveness of whole-Exome Sequencing in Complex Paediatric Neurology

Abstract

The current diagnostic trajectory in complex paediatric neurology is lengthy, resource-intensive, and low yield. As complex paediatric neurologic disorders generally have a genetic origin, implementing whole exome sequencing (WES) is expected to increase diagnostic yield in this complex paediatric neurology. However, it might also increase the costs in this diagnostic trajectory. The aim of this study is to empirically examine the cost-effectiveness of WES in clinical practice. 100 consecutive children with complex neurologic disorders of suspected genetic origin were included and underwent both the conventional diagnostic trajectory and WES. Health care resource use was measured prospectively and retrospectively. The primary effectiveness outcome was diagnostic yield. A trial-based cost-effectiveness analysis (CEA) of WES was performed with the prospective costs. Uncertainty was addressed using bootstrapping. To explore the cost-effectiveness of WES as a first-tier test, a model-based CEA was performed based on the retrospective costs. <span">WES increased diagnostic yield from 8% to 30%. The conventional diagnostic trajectory cost on average €1,882 when prospectively and €9,330 when retrospectively measured. TheWES trajectory cost €4,166. This resulted in an ICER of €10,673 per additional diagnosis. Our decision model indicated that WES as a first-tier test could result in cost savings if at least 31% of all paediatric neurology patients were complex ones. We showed that WES can provide value for money if not used as a last-resort test, and could even be cost-saving when applied as a first-tier test. Physicians should take this into account in deciding whether and when to use WES.