ArticleEpilepsia open2025
Barriers to the implementation of epilepsy genetic testing and counseling guidelines.
Article in Epilepsia open, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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Who cites it
2 citing papers in PubMed.
- Underutilization of syndrome-specific ICD-10 codes for genetic epilepsies: Implications for precision medicine.Epilepsia · 2026Article
- Barriers to the implementation of epilepsy genetic testing and counseling guidelines.Epilepsia open · 2025Article
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
objectiveIn 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.
methodsNeurologists 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.
resultsApproximately 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 (χ SIGNIFICANCE: 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. PLAIN LANGUAGE SUMMARY: 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.
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