Through the SEED project, we ambition to have a positive economic impact on the cost of the EE diagnosis odyssey and its three components:
- Cost of time lost to patient/family: the time between electro-clinical diagnosis for EE syndromes and the genetic diagnosis before the use of NGS was very long (15 years in one of SU patient who died before the diagnosis and average 8 years in Charuta. J, 2016 study23). With the availability of EE panel testing, the genetic diagnosis can be btained whithinmonths after birth18.
- Extra costs: Early clinical and genetic diagnostic of EE also allows to evaluate the recurrence risk; guiding medication management and avoid aggravation with inappropriate drugs which would result in extra costs.
- Monetary cost: Overall the cost of the etiological evaluation for epilepsy was significantly higher compared to cost of EE panel testing. Indeed, the cost of current epilepsy gene panels ranges from 1’500 to 6’000 dollars compared to 19’000 dollars spent on diagnostic tests other than NGS. The identification of a pathogenic variant(s) on the EE panel testing avoids further presurgical evaluation (surgical video telemetry, PET and SPECT scans, repeat MRIs) and subsequent surgery.