Dr. Hugh Kearney
Precision medicine is the practice of tailoring healthcare to each person, rather than simply treating the disease. Until now, the focus of precision medicine in epilepsy has been based on using medicines that target the products of abnormal genes with a reduction in seizures indicating success. In this paper, we summarise the standard used to date for the development of such precision medicines from single cell, animal models and later usage in case reports or clinical trials. The emerging concepts of microRNA treatment and gene therapy are also summarised in relation to precision therapy in epilepsy.
However, with the exception of the drug Everolimus, the outcomes from precision medicine to date in epilepsy have been modest, and have been restricted solely to single gene epilepsies. We discuss a new proposed journey for a person with epilepsy, from presentation to clinic and then precision diagnostics, to identify the cause of the epilepsy and then leading to categorisation for clinical trials. Whilst reduced seizure frequency has been one of the primary measures of success used to date, we discuss the importance of evaluating brain network functions, either through neurophysiological investigation or neuropsychological evaluation. Evaluation of network function and cognition may have particular relevance to developmental epileptic encephalopathies.
The proposed concept of ‘high-definition precision medicine’ also encompasses a broader range of important factors such as: genetic background, how genetics effect a person’s response to treatments , lifestyle factors, microbiomics (gut bacteria), natural history of the disease, sleep patterns, as well as the education of the person with epilepsy about their disease and its treatment to improve adherence to any new treatment.
Through the use of such a wide approach, we outline a proposed pathway for using high definition precision medicine in all epilepsies.
We discuss the importance of electronic health records to capture these data points and to integrate this high-definition approach into clinical practice. We propose using electronic health records as both a repository for these ‘big data’ acquisitions, and then as a support to analyse them using artificial intelligence. The use of artificial intelligence could be used as a means of categorizing people with epilepsy based on their genotype (or other factors) for recruitment into clinical trials.
Dr. Hugh Kearney is a Clinical Research Fellow with FutureNeuro and the lead author of this review paper.
He is based mainly in Beaumont Hospital and splits his time between clinics and research.
The paper was published in JAMA Neurology online August 5, 2019