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Some conditions are easy to deal with; they have one specific cause, a direct course of action, and a known cure. But these perfect scenarios are unfortunately less common than not. Epilepsy is among the list of much less straight forward conditions. There are many varying aspects to epilepsy, such as the severity of seizures, successful paths of treatment, and the genetic background that causes the disease. Being diagnosed with epilepsy can mean so many different things for a patient, and often doctors are unable to distinguish the cause, so their best course of action is to treat the symptoms as best they can.

Many of you may have probably heard of the term precision medicine. This is a phrase used a lot when speaking of cancer treatment. Precision medicine is the ability to treat each individual person’s cancer, or in this case epilepsy, as an independent, unique case that has its very own course of treatment. This requires the ability to know exactly what the underlying cause is and how to stop it. It can be as specific as on singular gene in a specific cell being turned on or off. With the vast amount of knowledge it would take to know how to treat each and every possibility of gene mutations and combinations, precision medicine seems like an impossible stretch, but the emersion and advancement of genetic testing is slowly making that dream seem much more in reach. Genetic testing has the potential to extremely improve treatment of epilepsy and decrease the side effects of treatment.

70% of epileptic syndromes are genetically influenced.

This means that finding these influences in individual genomes could drastically help the efficiency of epileptic treatments. Genetic tests are currently available to determine the causes of epilepsy disorders, and the continued improvement and expansion of these diagnostic tests will propel the field of precision medicine forward. The knowledge and technology required to make this a seamless process is not quite there yet, but genetic screenings show great promise in helping to reach the eventual goal of customized treatments for all epileptic disorders.

Striano, P., Minassian, B.A. (2020). From Genetic Testing to Precision Medicine in Epilepsy. Neurotherapeutics. https://doi.org/10.1007/s13311-020-00835-4