Barriers to the implementation of epilepsy genetic testing and counseling guidelines

In 2022, the National Society of Genetic Counselors published a practice guideline recommending genetic testing and counseling for all patients with unexplained epilepsy, using exome/genome sequencing or a multi-gene panel as the first-tier test. This survey study examined neurologists' current practices compared to the guideline and identified barriers. A total of, 44% of participants offer genetic testing to most/all their patients, while 46% test only when they suspect a genetic cause. Adult neurologists rate most barriers higher than pediatric neurologists. Better insurance coverage and increased access to genetic counselors are key to improving access to epilepsy genetic testing and counseling.