Barriers to the implementation of epilepsy genetic testing and counseling guidelines.

ABSTRACT:

Objective

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.

Methods

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 pr

SUBMITTER: Melly S 

PROVIDER: S-EPMC12514365 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature