Genetic Testing And Epilepsy - What You Need To Know
Genetic testing is something that might be encouraged for many reasons, but it’s also an intimidating test for a lot of people to take. So I wanted to write an article about it today, and more specifically, about how it may be used in regards to those with epilepsy.
Starting with…
What is genetic testing?
For those that don’t know, I thought I’d provide a quick explanation as to what genetic testing is.
Essentially, genetic testing is a type of medical test in which a professional will examine a person’s genes, genomes, proteins, and chromosomes in order to identify potential changes or mutations.
These mutations or anomalies could result in many things, including certain types of epilepsy. Which is why genetic testing, or DNA testing as it’s sometimes called, is quite common amongst epilepsy patients. Especially in cases where the cause of the epilepsy is unknown.
What can a genetic test tell you?
Genetic tests can provide you with a lot of valuable information or very little at all, depending on the findings.
Firstly, it can obviously detect the cause of epilepsy if it’s something genetic. And in the case that it is, this could help your doctor come up with a more comprehensive treatment plan for you. Plus, it could help you and your medical team gain a greater understanding of what to expect with your epilepsy.
But, secondly… it could actually shine some light on the likelihood of other people in your family having the same type of epilepsy as well. And additionally, it could let you know if you’re likely to pass the condition onto your children.
How does genetic testing work?
Now, the exact process that professionals use for genetic testing varies on the type of test they’re doing. There are…
Chromosome arrays, which is a test that focuses on detecting extra or missing chromosomal segments that might be associated with epilepsy. This test doesn’t include looking inside the gene itself.
Epilepsy gene panel tests, which may take a look at anywhere from a few to a few hundred genes in order to determine if there are any which are commonly associated with epilepsy.
And exome sequencing tests, which is more extensive than the others and looks at the DNA code of all the genes. Obviously, including epilepsy-related genes but also including other types. This test can also be reanalyzed later to look for changes in new epilepsy related genes.
And as you can see, genetic tests usually focus on one of three things… singular genes, groups of genes, or just the chromosomes.
But regardless of the type of genetic testing you undergo, you’ll simply need to provide a blood, saliva, or very rarely, a skin sample (as well as your consent for the testing). And your doctor will do the rest. So although the anxiety of what the results will show might be intense, the process itself is fairly straightforward.
Note - There is no prenatal genetic test for epilepsy.
Who should consider genetic testing for epilepsy?
Another important thing to note about genetic testing for epilepsy, is that not every patient needs to do it.
For instance, if your epilepsy has a known cause… then any sort of genetic testing would probably be unhelpful and unnecessary. Whereas, if the cause of your epilepsy is unknown… then genetic testing might be considered if you fit certain criteria.
Things that might contribute to your doctor requesting that you take a genetic test would be…
If your epilepsy and seizures are hard to control, or completely uncontrolled (such as with refractory epilepsy).
If your seizures started before the age of two
If there’s history of epilepsy in the family
Or if there are other things occurring alongside epilepsy, such as (but not limited to) intellectual disabilities
These criteria are considered because genetic testing can be quite expensive, time consuming, and emotionally taxing for the people involved… So doctors don’t want to perform these tests if it’s not necessary.
And on that note, there are reasons why someone might refuse a genetic test even if it’s offered! One of the most common ones being the emotional implications of finding out you have genetic epilepsy, and/or finding out that your family members or future children could have it as well. And another one revolving around finances, which we’re about to discuss…
What is the cost of genetic testing for epilepsy?
The cost of the genetic test will depend a lot on how complex and thorough it is. Meaning that simple tests could cost around $100, but more complicated and comprehensive ones could easily cost thousands of dollars.
As far as insurance goes, some insurers will cover the cost of genetic testing if it’s deemed medically necessary… But some won’t! And this is because the consistent effectiveness of genetic testing when it comes to improving patient’s outcomes is still debated. As they don’t always yield a result.
So if you’re looking into getting a genetic test done, you’ll want to double check whether or not your insurance will cover it. In order to decide how much you’d have to pay to get it done, and if the price is worth it to you.
Sources
As always, here’s a list of some of my sources for this article! I provide this for credibility, and also in case you want to research the topic I cover even more…
https://www.epilepsy.com/causes/genetic/testing
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340549/
https://medlineplus.gov/genetics/understanding/testing/costresults/
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