Pharmacogenetic Testing for Epilepsy

Understanding Epilepsy and Its Treatment Challenges

Treatment of epilepsy disorders centers around reducing the frequency and severity of seizures, though the nature of seizures is usually associated with the specific diagnosis (e.g., focal preserved consciousness, generalized tonic-clonic). However, when considering epilepsy treatment (or the old term "convulsion treatment") it is common that the first medication tried may not be adequately effective. This can mean trial-and-error and/or the need to be on multiple seizure treatment medications. During this time, seizures can continue to persist and can be cause of great distress and life disruption for those affected. 

Epilepsy (Anti-Seizure) Medication Side Effects: Reducing Risks with Pharmacogenetics

Though effectiveness is a major reason trial-and-error prescribing is often needed, anti-seizure medication side effects can also be an important reason. 

Though there are a few medications that could answer the question "what is the most common seizure medication?", one prominent example is phenytoin. Epilepsy medication side effects from phenytoin can include particularly problematic involuntary eye movements, slurred speech and sedation, and require immediate health care provider attention. 

Anti-seizure medications in general (like brivaracetam and clobazam) are generally associated with a number of side effects that can be problematic for the person be treated. This can include difficulty concentrating, dizziness and imbalance.

In some individuals, aspects of their immune system may become triggered and hypersensitive after a few weeks or months of starting specific medications (e.g., phenytoin, lamotrigine, carbamazepine). This can then cause major symptomatic side effects like severe rash over large sections of the body.  

Using Pharmacogenetic Testing Results to Guide Epilepsy Treatment

Factors influencing the frequency and/or severity of side effects are influenced by genetics, and many people carry variations in genes that affect the way they respond to certain anti-seizure medications including many discussed previously. In other words, genetic variations contributing to side effects are not uncommon.

Epilepsy pharmacogenetics testing is a process involving an analysis of someone's DNA for variations known to primarily impact side effects. This information can then be used to inform the choice of the medication selected, or the dose used with one of the goals being to reduce side effects.

Is Pharmacogenetic Testing Right for Your Epilepsy Management?

Pharmacogenetic testing provides actionable insights that can support health care providers in their medication treatment decisions. The results help identify which medications or dosing strategies may be less likely to cause problematic side effects based on their genetic profile, allowing them to reduce trial-and-error, stick with their treatment plan, and get the most out of their treatment. It can be useful for those who may have already tried specific medication or are just starting out.

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