Behind the Seizure Program Expands Access to Free Genetic Testing for Children Under 8

Behind the Seizure Program Expands Access to Free Genetic Testing for Children Under 8
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To speed diagnoses and provide free genetic testing for young children in the United States and Canada who have unexplained seizures, BioMarin Pharmaceutical and Invitae have expanded their Behind the Seizure program.

New partners in the effort include Biogen, Encoded Therapeutics, Neurogene, Praxis Precision Medicines, and PTC Therapeutics. The companies join Stoke Therapeutics and Xenon in helping to fund the program, which includes genetic counseling.

The program is expanding to offer no-cost genetic testing for any child under age 8 who has had an unprovoked seizure. Previously, healthcare providers could only order the test for children under 5.

“Behind the Seizure is one of the longest-running cross-company collaborations aimed at increasing access to genetic testing,” said Robert Nussbaum, Invitae chief medical officer, in a press release. “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.”

The program’s goal is to identify hereditary diseases that might be the cause of the seizures. Participating companies sponsor the cost of testing using the Invitae Epilepsy Panel, which analyzes more than 180 genes associated with causes of epilepsy and other neurodegenerative conditions. Results are available in two weeks, on average.

“We applaud these companies for their commitment to expanding this unique effort to help children,” Nussbaum added.

Early diagnoses promote earlier, tailored care in brain disorders such as Dravet syndrome, a severe type of epilepsy characterized by prolonged seizures that begin in the first year of life. Genetic testing is the most reliable method of diagnosing Dravet, although some cases may be caused by mutations in genes not yet known to cause the disease. And, because symptoms are similar to febrile seizures, Dravet patients are often initially misdiagnosed.

Encoded Therapeutics, one of the new program sponsors, has been working to advance ETX101, a gene therapy for SCN1A-positive Dravet syndrome. The therapy is designed to restore the expression levels of the SCN1A gene within the affected cell type, GABAergic inhibitory neurons. The majority of Dravet cases are caused by loss of function mutations in SCN1A, leading to uncontrolled seizures, developmental delays, and other conditions.

Another sponsor, Stoke Therapeutics, is developing STK-001, an antisense oligonucleotide that could become the first disease-modifying therapy to address the genetic cause of Dravet. According to preclinical results, the investigational treatment prolongs survival and lessens the frequency of seizures in a mouse model of the disease. STK-001 has been granted orphan drug designation by the U.S. Food and Drug Administration.

Established by biotechnology company BioMarin and genetics company Invitae, Behind the Seizure has resulted in thousands of children receiving genetic testing, significantly shortening the time for diagnosis. More than half of epilepsies have some genetic basis.

Under the program, third parties and commercial organizations may receive de-identified patient data as well as contact information for participating healthcare providers, but no patient-identifiable data. Program participants have no obligation to buy or support products or services from Invitae or other parties.

Visit this site for more program information.

Mary M. Chapman began her professional career at United Press International, running both print and broadcast desks. She then became a Michigan correspondent for what is now Bloomberg BNA, where she mainly covered the automotive industry plus legal, tax and regulatory issues. A member of the Automotive Press Association and one of a relatively small number of women on the car beat, Chapman has discussed the automotive industry multiple times of National Public Radio, and in 2014 was selected as an honorary judge at the prestigious Cobble Beach Concours d’Elegance. She has written for numerous national outlets including Time, People, Al-Jazeera America, Fortune, Daily Beast, MSN.com, Newsweek, The Detroit News and Detroit Free Press. The winner of the Society of Professional Journalists award for outstanding reporting, Chapman has had dozens of articles in The New York Times, including two on the coveted front page. She has completed a manuscript about centenarian car enthusiast Margaret Dunning, titled “Belle of the Concours.”
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Mary M. Chapman began her professional career at United Press International, running both print and broadcast desks. She then became a Michigan correspondent for what is now Bloomberg BNA, where she mainly covered the automotive industry plus legal, tax and regulatory issues. A member of the Automotive Press Association and one of a relatively small number of women on the car beat, Chapman has discussed the automotive industry multiple times of National Public Radio, and in 2014 was selected as an honorary judge at the prestigious Cobble Beach Concours d’Elegance. She has written for numerous national outlets including Time, People, Al-Jazeera America, Fortune, Daily Beast, MSN.com, Newsweek, The Detroit News and Detroit Free Press. The winner of the Society of Professional Journalists award for outstanding reporting, Chapman has had dozens of articles in The New York Times, including two on the coveted front page. She has completed a manuscript about centenarian car enthusiast Margaret Dunning, titled “Belle of the Concours.”
Latest Posts
  • genetic testing, Dravet
  • Dravet syndrome seizures, Epidiolex

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