1. Kirsten.vanNimwegen@radboudumc.nl
Contact information and poster download available via QR
code or via https://nl/linkedin.com/in/kirstenvannimwegen
INTRODUCTION
• The standard diagnostic trajectory in complex paediatric neurology (CPN) is
lengthy and resource-intensive, and has a low diagnostic yield
• As complex paediatric neurologic disorders generally have a genetic origin,
whole exome sequencing (WES) is expected to improve this diagnostic
trajectory
• It might however also increase the costs of this trajectory
The cost-effectiveness of diagnostic whole exome sequencing in
complex paediatric neurology
K.J.M. van Nimwegen¹, L.E.L.M. Vissers2, M.A.A.P. Willemsen3, J.H. Schieving3,J.A. Veltman2,4, G.J. van
der Wilt1, J.P.C. Grutters¹
¹Radboud university medical center, Department for Health Evidence, Nijmegen, the Netherlands
2Radboud university medical center, Department of Human Genetics, Nijmegen, the Netherlands
3Radboud university medical center, Department of Neurology, Nijmegen, the Netherlands
4Maastricht University Medical Centre, Department of Clinical Genetics, GROW – School for Oncology and Developmental Biology, Maastricht, the Netherlands
TAKE HOME MESSAGE
WES provides more value for money if not used as a last-
resort test, and could even be cost-saving when applied
early in the trajectory. Using WES as a first-tier test in all
paediatric neurology patients is only justifiable if at least
28% are of these patients are complex ones.
RESULTS
METHODS
• 100 consecutive CPN patients ≤18 years with non-specific neurologic
symptoms of suspected genetic origin were included. Two were excluded
because they died before WES was performed.
• In a parallel study design all patients (n = 98) underwent both the
standard diagnostic pathway and WES
Analyses
• Primary outcome: Diagnostic yield of both diagnostic pathways
• A prospective empirical cost-effectiveness analysis of WES in clinical
practice
• A retrospective model-based cost-effectiveness analysis of WES as a first-
tier test
• A threshold analysis informing on the percentage of the total
paediatric neurology patient population that should be “complex” to
justify WES as a first-tier test was included.
DISCUSSION
• WES increases diagnostic yield from 8% to 30%
• Using WES as an add-on test results in an ICER of €9,016 per diagnosis
• Willingness to pay for a diagnosis?
• WES is more likely to be cost-effective when applied earlier in the
diagnostic trajectory, and should be considered as an alternative to
sequential genetic testing
• However, paediatricians should keep in mind that the application of WES
as a first-tier test is only justifiable if over 28% of all patients are complex
ones
ICER = €9,016
Threshold = 28%
Objective:
To empirically examine the cost-effectiveness of WES in clinical paediatric
neurology practice. Additionally, a model-based analysis is performed to
explore the cost-effectiveness of WES when performed as a first-tier test.