Study highlights the value of genetic testing to guide clinical management and outcomes for epilepsy patients

Sept. 27, 2021

Invitae has presented research demonstrating that genetic findings informed clinical management changes that led to improved seizure control and outcomes in the majority of epilepsy patients with actionable findings.

This study underscores the importance of genetic testing for all people with epilepsy and supports the growing evidence that medical genetic testing can improve health outcomes and reduce healthcare costs. The findings were presented at the National Society of Genetic Counselors 40th Annual Conference.

"Epilepsy impacts the lives of approximately 50 million people worldwide and our findings further demonstrate the value of genetic testing to drive precision treatment decisions for these patients," said lead study author, Dee McKnight, PhD, FACMG. "These results build on the growing evidence that genetic testing at the first presentation with epilepsy can be a key part of an accurate diagnosis and can play an important role in its initial treatment and ongoing management, improving health outcomes and reducing healthcare costs."

Notably, the research found that a change in clinical management once genetic results were received was reported by clinicians for nearly half of patients. Furthermore, the majority of cases had a change in clinical management within three months of receiving positive genetic testing results, such as antiseizure medication adjustments.

Positive patient outcomes were reported in 75 percent of patients, including reduction or complete resolution of seizures after treatment changes as well as improvements in behavior, development, academics and movement issues.

Invitae release