Steps to Improve Precision Medicine in Epilepsy

Abstract

Precision medicine is an old concept, but it is not widely applied across human health conditions as yet. Numerous attempts have been made to apply precision medicine in epilepsy, this has been based on a better understanding of aetiological mechanisms and deconstructing disease into multiple biological subsets. The scope of precision medicine is to provide effective strategies for treating individual patients with specific agent(s) that are likely to work best based on the causal biological make-up. We provide an overview of the main applications of precision medicine in epilepsy, including the current limitations and pitfalls, and propose potential strategies for implementation and to achieve a higher rate of success in patient care. Such strategies include establishing a definition of precision medicine and its outcomes; learning from past experiences, from failures and from other fields (e.g. oncology); using appropriate precision medicine strategies (e.g. drug repurposing versus traditional drug discovery process); and using adequate methods to assess efficacy (e.g. randomised controlled trials versus alternative trial designs). Although the progress of diagnostic techniques now allows comprehensive characterisation of each individual epilepsy condition from a molecular, biological, structural and clinical perspective, there remain challenges in the integration of individual data in clinical practice to achieve effective applications of precision medicine in this domain.

Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study

“…We think that such cases are good examples of the role of NGS technologies (and especially ES) in solving atypical, unusual, or complex phenotypes. Reaching a precise and timely genetic diagnosis is important in order to correctly define the recurrence risk, and (when applicable) to aim for a targeted therapy [63][64][65][66].…”

Virus-Induced Epilepsy vs. Epilepsy Patients Acquiring Viral Infection: Unravelling the Complex Relationship for Precision Treatment

“…Stratification enables optimal drug selection and dosing regimens. However, challenges, including the lack of reliable biomarkers and the complexity of processes influencing susceptibility and progression, need addressing in refining patient stratification approaches [292,293].…”