THE COST-EFFECTIVENESS OF WHOLE-EXOME SEQUENCING IN COMPLEX PAEDIATRIC NEUROLOGY

Author(s)

van Nimwegen K, Vissers L, Willemsen M, Schieving J, Veltman J, van Der Wilt G, Grutters JP
Radboud university medical center, Nijmegen, The Netherlands

OBJECTIVES:   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. METHODS: RESULTS: <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. CONCLUSIONS: 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.

Conference/Value in Health Info

2016-10, ISPOR Europe 2016, Vienna, Austria

Value in Health, Vol. 19, No. 7 (November 2016)

Code

PMD57

Topic

Economic Evaluation

Topic Subcategory

Cost-comparison, Effectiveness, Utility, Benefit Analysis

Disease

Neurological Disorders

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