GeneDx (WGS) announced Biogen (BIIB), Praxis Precision Medicines (PRAX) and Stoke Therapeutics (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. 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. 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. The Patient Access Program helps to ensure more equitable care across pediatric epilepsy populations. Exome testing is recommended as a first-line test for patients with unexplained epilepsy by the National Society of Genetic Counselors and these guidelines are endorsed by the American Epilepsy Society.4 In addition, research shows that for those with a genetic diagnosis, the knowledge has implications for treatment and management in up to 80% of people.5 However, despite the overwhelming clinical support and guidelines for testing, access to testing is sparse, racial disparities exist due to lack of access, and the journey to obtain a genetic diagnosis for rare disorders, including epilepsy, can take years. The Patient Access Program aims to address these challenges by increasing access to whole exome sequencing for pediatric epilepsy patients.
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