Neurogenetics and Personalized Medicine in Epilepsy

Epilepsies present with considerable phenotypic heterogeneity and are influenced by underlying genetic risk factors. Personalized medicine utilizes genomics to link individual biological vulnerability with environmental exposure, lifestyle, and other influences, and is gaining significant prominence in epilepsy management. However, the implementation of genomic medicine has been limited in epilepsy care among certain demographics, particularly in resource-constrained communities within countries of varying socioeconomic levels. There are also significant gaps in knowledge regarding genetics, diagnostic testing, and the impact of genetic testing on epilepsy treatment among clinicians. Systemic barriers, such as lack of coverage or unaffordable co-payments by insurance providers, remains a major cause of disparity in access to genetic testing. Training of healthcare professionals in genomic medicine and increasing patient access to genetic counseling will be critical steps to addressing this diagnostic gap along with building and developing regional and global research and genomic networks for clinical and research collaboration.