Barriers to the implementation of epilepsy genetic testing and counseling guidelines

In 2022, the National Society of Genetic Counselors (NSGC) published a practice guideline for genetic testing and counseling for unexplained epilepsy. It is endorsed by the American Epilepsy Society and recommends genetic testing for all patients with unexplained epilepsy (prioritizing exome/genome sequencing [ES/GS] or multi-gene panel [MGP] as first-tier testing) and providing professional pre-/post-test counseling. This study investigates the alignment of neurologists' practice with this guideline and identifies barriers to implementation.

Neurologists who treat epilepsy in the United States completed a survey about guideline awareness, current practices, and barriers to genetic testing/counseling. Recruitment occurred through newsletters/listservs of professional organizations and public contact information. A total of, 91 participants accessed the survey, and 84 completed enough for inclusion in data analysis.

Approximately half (43.9%, 36/82) of participants offer genetic testing to most/all their patients with unexplained epilepsy, while the other half (46.3%, 38/82) offer genetic testing only to patients with epilepsy for whom they suspect a genetic etiology. Neurologists caring for adult patients were significantly more likely than those caring for pediatric patients to fall into the latter category (χ²[1, N = 69] = 22.66, p < 0.001). When ordering genetic testing, 75.5% (n = 40/53) of participants choose MGP most often, while 20.8% (n = 11/53) choose ES/GS and 3.8% (n = 2/53) choose microarray. Barriers to genetic testing and pre-/post-test counseling included insurance coverage, test coordination, limited expertise, and access to a genetic counselor (GC). Barriers were more significant for adult providers. Over half of participants (56.1%, n = 46/82) were aware of the NSGC guideline, but almost all (91.3%, n = 36/82) thought it was not broadly publicized.

Increased insurance coverage, access to GCs, and awareness of guidelines are needed to improve access to genetic testing and counseling for unexplained epilepsies, particularly for the adult population.

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.