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Invitae Partners to Expand Free Epilepsy Genetic Testing Program

NEW YORK (GenomeWeb) – Molecular diagnostics company Invitae has partnered with BioMarin, Stoke Therapeutics, and Xenon Pharmaceuticals to expand its free genetic testing program for children with epilepsy.

The Behind the Seizure program previously provided no-cost genetic testing for children ages two to four who had an unprovoked seizure. Invitae and its partners are now making free testing under this program available to children from birth up to five years old.

"Genetic testing can be invaluable in helping families and healthcare providers better understand how to care for children living with epilepsy," Amy Brin Miller, executive director of the Child Neurology Foundation, said in a statement, adding that the program would help improve genetic testing access to young patients.

Since the program began in 2016, hundreds of children have received free genetic testing, according to Invitae. The company has collected data to show that as result of access through the program, participants were diagnosed one to two years earlier than historic averages.  

The industry partners in the program sponsor the cost of testing, which Invitae conducts using a panel test that gauges more than 180 genes associated with syndromic and non-syndromic causes of epilepsy.

"More than half of epilepsies are based in genetics," Invitae Chief Medical Officer Robert Nussbaum said in a statement. "When a child experiences a seizure, performing genetic testing quickly using a comprehensive gene panel is a highly cost-effective and informative diagnostic tool."

Ed Kaye, CEO of Stoke Therapeutics, a company that develops drugs that interrogate the genetic cause of epilepsies including Dravet syndrome, added that the company is supporting this free testing program because as "precision medicines become available, it is increasingly important for patients to get early and accurate genetic testing so they can be matched with the appropriate treatment."

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