The cross-company collaborative will be supported by 8 sponsors and will make no-charge genetic testing available for all children under 8 with unprovoked seizures.
Robert Nussbaum, MD
Behind the Seizure, a collaborative of pharmaceutical companies dedicated to providing faster diagnosis for young children with epilepsy, is expanding their no-charge genetic testing program to include any child under 8 who has an unprovoked seizure. The program expansion is supported by the addition of several companies to the collaborative, including Biogen, Encoded Therapeutics, Neurogene, Praxis Precision Medicines and PTC Therapeutics, who join previous members BioMarin Pharmaceutical, Invitae Corporation, Stroke Therapeutics, and Xenon Pharmaceuticals.1
"Behind the Seizure is one of the longest-running cross-company collaborations aimed at increasing access to genetic testing. It has been shown to decrease time to diagnosis for children experiencing unprovoked seizures by one to two years from reported averages, and as more companies have joined the program, more children have been helped," said Robert Nussbaum, MD, chief medical officer of Invitae, in a statement.1
Previously, the program was only available for children under the age of 5. Notably, genetic testing will be provided only to those in the United States and Canada. Patients will receive test results an average of 14 days after testing.
Research has shown that patients who participated in the program were diagnosed 1 to 2 years earlier than historic averages.2
Invitae provides the genetic testing and other services, which are funded by the other companies in the collaborative. The funding goes directly to the cost of testing using the Invitae Epilepsy Panel, which screens over 180 genes linked to syndromic and non-syndromic causes of epilepsy.
Those involved in the program have no obligation to recommend, purchase, order, prescribe, promote, administer, use, or support any other products from Invitae. To enroll in the program, patients must gain clearance from a healthcare provider and meet certain criteria. Additionally, third parties and commercial organizations will have access to de-identifiable patient data but will not have access to patient identifiable information.
1. Behind the Seizure program further expands access to genetic testing for children to speed the diagnosis of genetic epilepsy [news release]. San Francisco, CA: BioMarin Pharmaceutical. January 8, 2020. ptcommunity.com/wire/behind-seizure-program-further-expands-access-genetic-testing-children-speed-diagnosis-genetic. Accessed January 8, 2020.
2. Miller, Nicole, et al. Behind the Seizure: A No-Cost 125-gene Epilepsy Panel for Pediatric Seizure Onset Between 2–4 Years. Presented at: American Society of Human Genetics Meeting. October 16–20, 2018; San Diego, CA.