Epilepsia Open (Feb 2024)

Early genetic testing in pediatric epilepsy: Diagnostic and cost implications

  • Shanna M. Swartwood,
  • Ana Morales,
  • Kathryn E. Hatchell,
  • Chad Moretz,
  • Dianalee McKnight,
  • Laurie Demmer,
  • Sarah Chagnon,
  • Swaroop Aradhya,
  • Edward D. Esplin,
  • Joshua L. Bonkowsky

DOI
https://doi.org/10.1002/epi4.12878
Journal volume & issue
Vol. 9, no. 1
pp. 439 – 444

Abstract

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Abstract The identification of numerous genetically based epilepsies has resulted in the widespread use of genetic testing to inform epilepsy etiology. Our study aims to investigate whether a difference exists in the diagnostic evaluation and healthcare‐related cost expenditures of pediatric patients with epilepsy of unknown etiology who receive a genetic diagnosis through multigene epilepsy panel (MEP) testing and comparing those who underwent early (EGT) versus late genetic testing (LGT). Testing was defined as early (less than 1 year), or late (more than 1 year), following clinical epilepsy diagnosis. A retrospective chart review of pediatric individuals (1–17 years) with epilepsy of unknown etiology who underwent multigene epilepsy panel (MEP) testing identified 28 of 226 (12%) individuals with a pathogenic epilepsy variant [EGT n = 8 (29%); LGT n = 20 (71%)]. The average time from clinical epilepsy diagnosis to genetic diagnosis was 0.25 years (EGT), compared with 7.1 years (LGT). The EGT cohort underwent fewer metabolic tests [EGT n = 0 (0%); LGT n = 16 (80%) (P < 0.01)] and invasive procedures [EGT n = 0 (0%); LGT n = 5 (25%) (P = 0.06)]. Clinical management changes implemented due to genetic diagnosis occurred in 10 (36%) patients [EGT n = 2 (25%); LGT n = 8 (40%) (P = 0.76)]. Early genetic testing with a MEP in pediatric patients with epilepsy of unknown etiology who receive a genetic diagnosis is associated with fewer non‐diagnostic tests and invasive procedures and reduced estimated overall healthcare‐related costs. Plain language summary This study aims to investigate whether a difference exists in the diagnostic evaluation and cost expenditures of pediatric patients (1‐17 years) with epilepsy of unknown cause who are ultimately diagnosed with a genetic cause of epilepsy through multigene epilepsy panel testing and comparing those who underwent early testing (less than 1 year) versus late testing (more than 1 year) after clinical epilepsy diagnosis. Of the 28 of 226 individuals with a confirmed genetic cause of epilepsy on multigene epilepsy panel testing, performing early testing was associated with fewer non‐diagnostic tests, fewer invasive procedures and reduced estimated overall healthcare‐related costs.

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