A recent study by Invitae, published in JAMA Neurology, demonstrates the significant impact of genetic testing on the management and treatment of epilepsy. The study reveals that a positive genetic diagnosis prompts clinical management changes in about half of epilepsy patients, leading to improved health outcomes in as many as three-quarters of those patients.
Impact of Genetic Testing on Epilepsy Management
The study addresses a critical gap in understanding how clinicians act upon receiving positive genetic results for epilepsy patients. According to the findings, a definitive molecular diagnosis obtained through genetic testing led to important changes in clinical management, ultimately improving patient outcomes. These changes included initiating, adding, or stopping medications, and were implemented within three months of testing in half of the patients studied.
For patients who underwent treatment changes based on genetic testing results, 75% experienced positive health outcomes. This included a 65% reduction in seizure frequency and, in some instances, complete seizure elimination. These results underscore the potential of genetics-informed approaches in managing epilepsy care.
Supporting Evidence and Guidelines
The study supports the National Society of Genetic Counselors guideline, which strongly recommends genetic testing for all individuals with unexplained epilepsy. This reinforces the critical need for genetic testing in the clinical evaluation of all epilepsy patients to inform clinical decision-making, improve outcomes for nearly 30% of patients with a positive test result, and potentially reduce healthcare costs.
Study Design and Implications
This international study involved a diverse group of clinical practices and clinicians, demonstrating the effectiveness of genetic testing-informed clinical practice regardless of patient demographics. It builds upon previous Invitae clinical studies, further highlighting the precision medicine implications of genetic testing in epilepsy patients and the clinical utility of genetic testing in adult patients with epilepsy.
Swaroop Aradhya, PhD, FACMG, senior study author and head of global medical affairs at Invitae, stated, "Precision medicine is increasingly becoming an important reality in the clinical care of children and adults with epilepsy... [This study] underscore[s] the urgency of adopting a genetics-informed approach to managing the care of those suffering from epilepsy."
Dee McKnight, PhD, FACMG, lead author and medical affairs director for rare disease at Invitae, added, "This study provides further evidence that genetic testing results can benefit the provider and the patient by guiding clinical management and improving health outcomes."
With over 3 million patients in the U.S. and 50 million worldwide affected by epilepsy, these findings advocate for genetic testing as a standard of care for all patients with epilepsy, enabling gene-based personalized therapy and management.
