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Monday, October 31, 2022

Invitae: therapy informed by genetic testing reduces seizures in some patients with epilepsy

 Invitae (NYSE: NVTA), a leading medical genetics company, today announced the findings of a study that documents the actions clinicians take upon receiving a positive diagnostic genetic testing result for patients with epilepsy. The findings, in JAMA Neurology, demonstrate that a positive genetic diagnosis leads to clinical management changes in approximately half of patients and that changes implemented by clinicians based on genetic testing improve health outcomes in as many as three quarters of patients. When a change in management is made based on the results of a positive genetic test result, outcomes for patients with epilepsy generally improve, including reduction, and even complete elimination of seizures. 

This study addresses a longstanding gap in understanding clinician action once positive genetic results are found for patients with epilepsy. A definitive molecular diagnosis obtained from epilepsy genetic testing led to important changes in clinical management that ultimately improved outcomes for patients. These changes included initiating medication, adding a new medication, or stopping a medication, and were made for half of the patients in the study within three months of testing. For patients with treatment changes, 75% were reported to have positive health outcomes including 65% who had reduction in seizure frequency and in some cases elimination of seizures.  

https://www.marketscreener.com/quote/stock/INVITAE-CORPORATION-23400709/news/Invitae-study-shows-therapy-informed-by-genetic-testing-reduces-seizures-in-some-patients-with-epile-42157626/

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