Authors :
Presenting Author: Mitch Bailey, MS – BioMarin Pharmaceutical Inc.
Ashley Volz, MS – BioMarin Pharmaceutical Inc.
Abigail Hunt, PhD – BioMarin Pharmaceutical Inc.
John Garcia, PhD – Labcorp (formerly Invitae Corp.)
Rationale:
Over 30% of epilepsy cases can be attributed to genetic variants across more than 800 genes. Epilepsy gene panels can rapidly determine the etiology of both benign and progressive conditions, aiding in the timely implementation of appropriate management strategies. Epilepsy gene panels are currently not consistently used early in the diagnostic process (e.g., alongside electrophysiology, imaging), in part due to inconsistent medical guidelines and ambiguous or exclusionary insurance policies. The aim of this analysis was to assess the cost-effectiveness of early genetic testing for epilepsy (within 1 year of first unprovoked seizure) compared with later testing.
Methods:
The analysis considered deidentified electronic health record (EHR) data (Komodo Health®) linked with genetic test results from a sponsored epilepsy genetic testing program. Individuals with a first seizure documented between the ages of 24 and < 60 months who were tested through the epilepsy gene panel program and who had at least 3 years of available EHR data after the date of first seizure were eligible for inclusion. Healthcare utilization related to diagnostic investigations across encounter types (outpatient visits, emergency room [ER] visits, magnetic resonance imaging [MRI], electroencephalogram [EEG]) were assessed over the 3 years following first seizure and were compared for those who received genetic testing within 12 months of the first documented seizure (early tested) with those tested >12 months after first documented seizure (late tested). Results:
A total of 626 early-tested and 897 late-tested individuals were included in the analysis. Mean time from first seizure to epilepsy panel testing was 4.3 months in the early-tested group and 39.3 months in the late-tested group. Over the 3-year follow-up period, mean (SD) overall Current Procedural Terminology (CPT)-associated costs were significantly lower for the early-tested group, at $31,578 ($217,143) compared with $88,811 ($507,472) for the late-tested group (p=0.03). Use of MRI was higher in the early-tested group (1.98 vs 1.77 events for early- vs late-tested; p=0.04). The number of both ER and outpatient visits was significantly higher for late-tested patients compared with early-tested: 6.84 vs 4.87 (p< 0.001) and 17.79 vs 14.47 (p< 0.001), respectively. There was no significant difference between groups in use of EEG (5.45 vs 5.46 events for early- vs late-tested groups).