The diagnostic pathway in complex paediatric neurology: a cost analysis

Area of Science:

• Paediatric Neurology
• Medical Genetics
• Health Economics

Background:

• Complex paediatric neurological disorders often involve lengthy, burdensome, and expensive diagnostic pathways with modest diagnostic yields.
• Innovations like whole exome sequencing may improve diagnostic trajectories.
• Mapping current pathways is crucial for evaluating new diagnostic technologies.

Purpose of the Study:

• To assess healthcare resource utilization and associated costs in the diagnostic trajectory of complex paediatric neurological disorders in the Netherlands.
• To establish a baseline for evaluating the impact of novel diagnostic techniques.

Main Methods:

• A cohort of 50 patients with complex paediatric neurological disorders of suspected genetic origin was studied.
• Healthcare resource utilization data were collected from medical charts.
• Unit prices were obtained from official Dutch sources and hospital administration.
• Bootstrap simulations were used to determine mean quantities and costs.

Main Results:

• The mean diagnostic trajectory duration was 40 months, with a diagnosis established in only 6% of patients.
• Patients averaged 16 physician visits, 4 imaging tests, 2 neurophysiologic tests, 8 genetic tests, and 16 other tests.
• Mean costs per patient were €12,475, with genetic tests accounting for 43% and hospital visits for 25%.

Conclusions:

• Current diagnostic trajectories for paediatric neurological disorders with suspected genetic origins are lengthy, resource-intensive, and low-yield.
• The findings provide essential data for evaluating the cost-effectiveness and impact of implementing new technologies like whole exome sequencing.