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October 31, 2022

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

– Results support universal genetic testing in all diagnosed patients with epilepsy to potentially improve health outcomes – 

SAN FRANCISCO, Oct. 31, 2022 /PRNewswire/ -- 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. 

"Precision medicine is increasingly becoming an important reality in the clinical care of children and adults with epilepsy. The observations from this study, derived from clinical practices in multiple countries and clinical settings, underscore the urgency of adopting a genetics-informed approach to managing the care of those suffering from epilepsy," said Swaroop Aradhya, PhD, FACMG, senior study author and head of global medical affairs at Invitae.

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.  

"This information is vital to Invitae's mission to bring genetics into mainstream medicine to improve healthcare," said Dee McKnight, PhD, FACMG, lead author and medical affairs director for rare disease at Invitae. "This study provides further evidence that genetic testing results can benefit the provider and the patient by guiding clinical management and improving health outcomes."

Epilepsy affects over 3 million patients in the U.S. and 50 million patients worldwide. This study supports the recently published National Society of Genetic Counselors guideline, stating, "Genetic testing is strongly recommended for all individuals with unexplained epilepsy…" reinforcing the critical need to use genetic testing in the clinical evaluation of all patients with epilepsy to inform clinical decision making, improve outcomes for almost 30% of patients with a positive test result and potentially save healthcare dollars. 

This unique real-world international study involves a diverse group of clinical practices and clinicians, thus demonstrating the effectiveness of genetic testing-informed clinical practice regardless of patient demographics. It builds on previous Invitae clinical studies demonstrating the precision medicine implications of genetic testing in patients with epilepsy and clinical utility of genetic testing in adult patients with epilepsy. This study expands to show that genetic testing definitively improves the clinical outcomes of some patients with epilepsy, through gene-based personalized therapy and management, and should be standard of care for all patients with epilepsy.

To learn more about epilepsy genetic testing, Invitae.

About Invitae
Invitae Corporation (NYSE: NVTA) is a leading medical genetics company, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time and lower prices. For more information, visit the company's website at

Safe Harbor Statement
This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the implications of the company's study results; and that genetic testing can guide clinical management and has the potential to improve health outcomes for patients with epilepsy. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: the company's history of losses; the company's ability to compete; the company's failure to manage growth effectively; the company's need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; the company's ability to use rapidly changing genetic data to interpret test results accurately and consistently; security breaches, loss of data and other disruptions; laws and regulations applicable to the company's business; and the other risks set forth in the company's filings with the Securities and Exchange Commission, including the risks set forth in the company's Quarterly Report on Form 10-Q for the quarter ended June 30, 2022. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Renee Kelley
(628) 213-3283


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