GeneDx (NASDAQ:WGS), a leader in delivering improved health outcomes through genomic insights, today announced Biogen (NASDAQ:BIIB), Praxis Precision Medicines (NASDAQ:PRAX) and Stoke Therapeutics (NASDAQ:STOK) as the founding partners to its Patient Access Program for pediatric epilepsy, which provides access to whole exome sequencing.
Currently, access to a definitive genetic diagnosis in pediatric epilepsy remains limited, as evidenced by the 5–8-year diagnostic odyssey that many children face.1 While patients may receive targeted multi-gene panel testing, there are more than 700 different genes related to seizures, and less than 50% of those genes are included on most commercially available gene panels.2 This program increases access to exome testing, increasing the chance of receiving a definitive diagnosis. Nearly 25% of patients with seizures received a genetic diagnosis through exome testing, compared to a previously reported 19% diagnostic yield for epilepsy gene panels.3