Precision medicine in epilepsy: Clinicians' perspectives from an international qualitative study

Precision medicine (PM) is gaining increasing importance in the treatment of rare genetic epilepsies. However, its availability and implementation in clinical practice remain limited. This study explores the barriers and facilitators influencing the implementation of PM for people with epilepsy (PWE).

Semistructured interviews were conducted with clinicians involved in epilepsy care for PWE across various global regions. Participants were purposefully selected based on geographical distribution and World Bank income classification. Framework analysis was used to identify key themes.

Sixteen clinicians from six different continents were interviewed. Five key themes emerged. The implementation of PM depends on (1) the personal perspective and experience of health care providers; (2) the attitude of PWE and their caregivers toward PM, and their interaction with clinicians; (3) continuous education of health care providers, formation of expert teams, and generation of robust evidence on PM; (4) multilevel collaboration including patient advocacy groups; and (5) a clear, consistent organizational approach and the development and implementation of standardized guidelines.

Clinicians consider PM as transformative for the care for PWE and expect it to redefine standard practice in the near future. Insufficient knowledge is the primary barrier to PM implementation, irrespective of socioeconomic context, highlighting the need for its integration into basic medical training and residency programs. To address inequities, integrated care pathways and standardized guidelines for genetic testing and PM, and the establishment of local PM-focused expert teams are essential to support clinicians in making informed PM decisions.