This study is a prospective pre-post evaluation of patients with refractory epilepsy to investigate the utility of genomic testing in the neurology clinic. The goal is to demonstrate that this model of care in refractory epilepsy patients will significantly improve healthcare and show that this can be delivered using available resources effectively and efficiently. This study involves genomic screening, to determine if there is a genomic cause for the epilepsy.

The mission will be accomplished by creating a diagnostic and management algorithm which incorporates accessible genomic testing integrated into the model of care for neurological patients. The integration of genetic counsellor support into mainstream neurological services and the provision of individualised reports to patients and their primary carer, facilitates person-centred and connected care.

This study also involves a functional sub-study in which the functional impact of genomic variants will be assessed and in vitro organoid based drug screening will be undertaken. The utility of this platform will be assessed using a post evaluation of patient quality of life and also by reviewing the patient’s clinical responses to previously trialled medications compared with in-vivo responses.