Carol Williams
The purpose of this study was to determine the diagnostic efficacy and cost-effectiveness of whole-exome sequencing (WES) as a standard early-diagnostic tool in children with progressing neurological diseases. During the years 2016–2018, patients with infantile-onset severe neurological illnesses or childhood-onset progressive neurological disorders were prospectively enrolled in the WES study at Helsinki University Hospital's paediatric neurology clinic. A total of 48 individuals underwent a singleton WES. A control group of 49 youngsters had standard diagnostic exams and their results were gathered retrospectively from hospital records. We acquired information about their usage of healthcare services relevant to the diagnosis procedure. From the standpoint of the healthcare provider, the Incremental CostEffectiveness Ratio (ICER) per extra diagnostic was determined. The uncertainty of cost-effectiveness results was estimated using bootstrapping methods. WES had a 38% higher diagnostic yield than a diagnostic route that did not emphasize WES in early diagnosis. WES outperformed other diagnostic approaches, particularly when conducted early, within a year of admission. Our cost-effectiveness estimates are cautious, as they are influenced by WES expenses from 2016 to 2018.