Early genetic testing in pediatric epilepsy: Diagnostic and cost implications

Area of Science:

• Pediatric Neurology
• Clinical Genetics
• Healthcare Economics

Background:

• Genetically based epilepsies are increasingly identified, driving the use of genetic testing for diagnosis.
• Epilepsy of unknown etiology in children presents diagnostic challenges and potential for extensive healthcare utilization.

Purpose of the Study:

• To compare diagnostic evaluation and healthcare costs in pediatric epilepsy patients with unknown etiology who receive genetic diagnoses via multigene epilepsy panel (MEP) testing.
• To assess the impact of early (EGT) versus late (LGT) genetic testing on diagnostic workup and expenditures.

Main Methods:

• Retrospective chart review of pediatric patients (1-17 years) with epilepsy of unknown etiology undergoing MEP testing.
• Categorization of genetic testing as early ( < 1 year) or late ( > 1 year) post-clinical diagnosis.
• Comparison of non-diagnostic tests, invasive procedures, and clinical management changes between EGT and LGT cohorts.

Main Results:

• Of 226 patients, 28 (12%) had a pathogenic epilepsy variant identified via MEP testing.
• The EGT cohort (n=8) showed a mean time to genetic diagnosis of 0.25 years, compared to 7.1 years for LGT (n=20).
• EGT patients underwent significantly fewer metabolic tests (0% vs 80%, P<0.01) and fewer invasive procedures (0% vs 25%, P=0.06) compared to LGT.

Conclusions:

• Early genetic testing (EGT) with MEP in pediatric epilepsy patients with unknown etiology is associated with a more streamlined diagnostic process.
• EGT leads to a reduction in non-diagnostic tests and invasive procedures, contributing to lower overall healthcare costs.
• Genetic diagnosis through MEP testing can inform clinical management, with similar rates of management changes observed in both EGT and LGT groups.