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Epilepsy Management Often Shifts After Multigene Panel Testing, Study Finds

NEW YORK – Findings from multigene panel tests appear to prompt clinical management changes in epilepsy patients at least half of the time while providing informative insights for those already receiving appropriate treatment, new research suggests.

"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," co-senior author Swaroop Aradhya, head of global medical affairs at medical genetics company Invitae, said in a statement.

Invitae funded and led the study, which included researchers from the US, Canada, and Chile and appeared in JAMA Neurology on Monday.

The retrospective study focused on more than 400 epilepsy patients between infancy and 52 years old who had pathogenic or likely pathogenic variants detected with next-generation sequencing multigene panel testing provided by Invitae at commercial or clinical practice sites in more than a dozen countries between March 2016 and August 2020.

With outcome data available from case report forms completed by healthcare professionals by late 2020, the team found that 208 patients experienced clinical management changes stemming from their genetic findings.

"In this large, retrospective, real-world, international cross-sectional analysis, we found that a definitive genetic diagnosis was associated with changes in clinical management in approximately half the patients with epilepsy, consistent with previous reports," the authors wrote.

At the National Society of Genetic Counselors annual meeting last year, coauthor Ana Morales, clinical program director at Invitae, shared similar clinical management and outcome findings for genetically tested epilepsy patients profiled by the same research team, which includes investigators with "Epilepsy Evaluated, Interrogated, and Treated with Genetics" (ELEVIATE) consortium.

In the new study, the researchers found that dozens of epilepsy patients were newly prescribed medication, given a new type of medication, or taken off an existing medication based on their genetic results, for example, while 48 patients were referred to a specialist and still other patients were monitored more closely.

Most of these management shifts occurred relatively soon after the genetic results were received, the team explained: Nearly 82 percent came in the first three months of getting the test results. Even so, the time from when healthcare providers ordered such tests and completed a patient's case form varied widely, from just 27 days to almost 1,700 days.

After a year of follow-up time, on average, the researchers saw positive outcomes of the genetics-based management tweaks in 125 of the 167 patients with available clinical information, with 108 individuals experiencing fewer seizures and 48 patients reporting improvements in other symptoms or in adverse effects related to treatment.

The team noted that some of the epilepsy patients did experience worse outcomes after receiving their genetic test results, including half a dozen patients with more frequent seizures at follow-up, three patients with adverse effects related to their medication, and 20 patients with worse conditions overall.

On the other hand, the researchers found that more than 48 percent of those who did not have a treatment change related to their genetic testing were already receiving the medication or treatment associated with their result. And healthcare provider reports indicated that they may consider the genetic data for more than 44 percent of patients with unchanged treatment when making clinical decisions in the future.

"The data from our study suggest the development of recommendations related to the use of genetic testing in the clinical evaluation of all individuals with epilepsy to potentially guide clinical decision-making, improve patient outcomes, and save health care dollars," the authors concluded.