Genetic Testing in Epilepsy improves disease management and outcomes

It is currently unknown how often and in which ways a genetic diagnosis given to a patient with epilepsy is associated with clinical management and outcomes.

A study was conducted to evaluate how genetic diagnoses in patients with epilepsy are associated with clinical management and outcomes.

This was a retrospective cross-sectional study of patients referred for multigene panel testing between March 18, 2016, and August 3, 2020, with outcomes reported between May and November 2020. The study setting included a commercial genetic testing laboratory and multicenter clinical practices. Patients with epilepsy, regardless of sociodemographic features, who received a pathogenic/likely pathogenic (P/LP) variant were included in the study. Case report forms were completed by all health care professionals.

Clinical management changes after a genetic diagnosis (ie, 1 P/LP variant in autosomal dominant and X-linked diseases; 2 P/LP variants in autosomal recessive diseases) and subsequent patient outcomes as reported by health care professionals on case report forms.

Results:

• Among 418 patients, median (IQR) age at the time of testing was 4 (1-10) years, with an age range of 0 to 52 years, and 53.8% (n = 225) were female individuals.
• The mean (SD) time from a genetic test order to case report form completion was 595 (368) days (range, 27-1673 days).
• A genetic diagnosis was associated with changes in clinical management for 208 patients (49.8%) and usually (81.7% of the time) within 3 months of receiving the result.
• The most common clinical management changes were the addition of a new medication, the initiation of medication, the referral of a patient to a specialist, vigilance for subclinical or extra neurological disease features.
• Among 167 patients with follow-up clinical information available 125 (74.9%) reported positive outcomes, 108 (64.7%) reported reduction or elimination of seizures, 37 (22.2%) had decreases in the severity of other clinical signs, and 11 (6.6%) had reduced medication adverse effects.
• A few patients reported worsening of outcomes, including a decline in their condition (20 [12.0%]), increased seizure frequency (6 [3.6%]), and adverse medication effects (3 [1.8%]).
• No clinical management changes were reported for 178 patients (42.6%).

Results of this cross-sectional study suggest that genetic testing of individuals with epilepsy may be materially associated with clinical decision-making and improved patient outcomes.

Reference:

McKnight D, Morales A, Hatchell KE, et al. Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice. JAMA Neurol. Published online October 31, 2022. doi:10.1001/jamaneurol.2022.3651

Keywords:

Genetic, Testing, Epilepsy, improves, disease, management, outcomes, JAMA Neurology, McKnight D, Morales A, Hatchell KE