How does genetic testing help patients with epilepsy?

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How does genetic testing help patients with epilepsy?

How does genetic testing help patients with epilepsy? Genetic testing is a means of detecting disease-causing genes through blood and body fluid testing.

Not all patients with epilepsy need genetic testing, but for some people, genetic testing is of great significance.

What is the use of genetic testing for patients with epilepsy?

Accurate diagnosis:

The classification and causes of epilepsy are diverse, and some patients often fail to receive good treatment because they cannot be clearly diagnosed. Genetic testing allows doctors to accurately diagnose the condition and give targeted treatment plans.

Precise medication:

Some anti-epileptic drugs have a corresponding relationship with the patient’s genes. For example, some drugs are more effective for patients with a certain gene, while other drugs are ineffective or may aggravate. Genetic testing can help precise medication and better treatment of diseases.

Avoid serious adverse reactions: Gene testing for safe medication, detecting the relevant genes involved in the patient’s medication, can predict the degree of adverse reactions of the patient to different drugs, so as to guide the patient’s medication, determine whether a person is suitable to use a certain drug, and try to avoid adverse reactions happened.

Predicting disease development: Certain types of epilepsy patients will stop seizures after entering puberty, and some types of epilepsy patients have longer treatment cycles. Genetic testing can help doctors and patients predict the development of the disease and better determine treatment methods. Discontinuation plan, etc.

Control genetic risk: About 2%-4% of epilepsy have family inheritance, genetic testing can let patients know the genetic risk, and scientifically plan future marriage and childbirth.

Who is suitable for genetic testing?

Patients whose cause cannot be found
Patients with hereditary epilepsy but poorly controlled
If the patient’s genetic test results have a pathogenic gene, then the patient’s family members can also determine the genetic risk through genetic testing.

Supplement: If epilepsy is caused by some clear, non-genetic etiology (such as traumatic brain injury, encephalitis, etc.), patients usually do not need to undergo genetic testing.

Limitations of genetic testing for epilepsy

At present, there is no single genetic test that can diagnose all hereditary epilepsy, that is, patients may have to undergo multiple genetic tests, which means higher medical costs. The conventional genetic test is all exons + CNV.

However, different diseases need to focus on screening different genes. If mitochondrial encephalopathy is suspected, additional screening of mitochondrial-related genes is required.

In addition, epilepsy is a very complex disease, and current genetic testing techniques cannot find all genetic associations. Some patients can indeed improve treatment through genetic testing, but some patients still cannot find the cause.

Therefore, whether to conduct genetic testing and how many sets of testing to do, it is still necessary to comprehensively consider the condition of the disease, the doctor’s recommendation and the family’s financial situation.