GeneDx announced the first-of-its-kind patient access program, developed in partnership with leading biopharma companies, which aims to increase access to exome sequencing for pediatric epilepsy patients. Through the patient access program, GeneDx is helping to ensure more equitable care across patient populations. While payor coverage for exome testing has improved, this program may help expand access of necessary genetic testing for pediatric epilepsy patients.

Exome testing is recommended as a first-line test for individuals with unexplained epilepsy by the National Society of Genetic Counselors and these guidelines are endorsed by the American Epilepsy Society. In addition to these medical guidelines, research shows that a genetic diagnosis can further guide clinical decisions, with patients experiencing up to 90% seizure reduction in some cases and up to 80% of cases having implications for treatment and management. However, despite the overwhelming clinical support and guidelines, access to testing is sparse, and genetic diagnosis for rare disorders, including epilepsy, can take up to 5 years.

Expanding access to exome testing not only ensures that more patients receive a diagnosis, with exome diagnostic rates for epilepsy at nearly 25% compared to the less than 20% diagnostic rate offered by multi-gene panels, but it also creates the opportunity for GeneDx to better understand gene-disease relationships through the robust data and insights delivered with an exome result. The utilization of this program will continue to fuel GeneDx?s industry-leading rare-disease data set, which can help support biopharma partners to bring therapies to patients faster, by accelerating clinical trial recruitment and drug discovery. To be eligible for the Patient Access Program: Epilepsy patients must meet certain criteria, including the following: Patient must reside in the United States.

Patient?s ordering provider must be authorized under applicable law to order genetic testing in the United States. Patient must have experienced their first unprovoked seizure under 8 years of age. Patient must not have had prior genetic testing performed by a clinical laboratory which confirmed a diagnosis of a neurodevelopmental disorder (NDD).

Patient must be less than 18 years of age.