GeneDx has announced the expansion of its patient access program for pediatric epilepsy, which provides access to whole exome sequencing to qualifying pediatric patients.
Biogen, Praxis Precision Medicine, and Stoke Therapeutics have signed on as founding partners to the Patient Access Program.
The program, launched earlier this year, aims to ensure more equitable care across pediatric epilepsy populations, GeneDx said in a statement. Access to exome testing, recommended as a first-line test for patients with unexplained epilepsy by the National Society of Genetic Counselors and endorsed by the American Epilepsy Society, remains limited for pediatric epilepsy patients.
Less than 50% of the 700 genes that may be implicated in seizures are included on most commercially available multigene panels, GeneDx noted. Whole exome sequencing can significantly shorten the time before receiving a definitive diagnosis, in turn informing and improving treatment decisions.
Moreover, GeneDx noted that in addition to helping patients receive a genetic diagnosis, the testing will contribute to GeneDx's rare disease dataset, which includes deidentified data from more than 700,000 exome and genome results. These data can help researchers better understand gene-disease relationships, GeneDx said.
To be eligible for the patient access program, epilepsy patients and their providers must meet certain criteria, including the following:
- The patient must be a U.S. resident under 18 years of age.
- He or she must have experienced their first unprovoked seizure under 8 years of age.
- They must not have had prior genetic testing performed by a clinical laboratory that confirmed a diagnosis of a neurodevelopmental disorder.
- The ordering provider must be authorized under applicable law to order genetic testing in the U.S.
