This story has been updated to include comments from a GeneDx spokesperson.
NEW YORK – GeneDx said Thursday that it has launched a program that provides pediatric epilepsy patients with access to whole-exome sequencing, in partnership with Biogen, Praxis Precision Medicines, and Stoke Therapeutics.
Financial details of the deal were not disclosed.
GeneDx said the program aims to ensure more equitable access to such testing across patient populations.
To be eligible, epilepsy patients must be less than 18 years old and reside in the US. They must have experienced their first unprovoked seizure under the age of 8 years and must not have had prior genetic testing by a clinical laboratory that confirmed a diagnosis of a neurodevelopmental disorder.
In addition to helping patients receive a genetic diagnosis, GeneDx said, the insights generated from the testing will also contribute to the company's rare disease dataset, which contains de-identified data from more than 700,000 exome and genome tests.
According to a GeneDx spokesperson, the partner firms in this program will not send samples to GeneDx for sequencing. As part of the program, exome sequencing tests will be ordered by the patient’s physician, as medically appropriate. If the patient’s insurance provider denies coverage of the exome test, or if the patient is uninsured, the biopharma partners will cover the cost of testing, the spokesperson said.
In return, the biopharma partners will receive de-identified patient data, such as reportable variants, for patients tested through the program, and contact information for providers ordering testing through the program, the spokesperson said, adding that the program will allow its partners to discover new target therapeutic areas to fuel their R&D funnel.
“While epilepsy is a fairly common condition, affecting nearly half a million children under age 18 in the US, its genetic origins are still insufficiently understood," GeneDx Chief Growth Officer Melanie Duquette said in a statement. "Through increased access to exome testing, more patients may not only get potential answers for their symptoms, but it may also allow the possibility of personalized treatments and therapies in the future."