The human nervous system is made up of a complex structure of nerves, pathways, and organs, which take in all the sensory information that our body receives and delivers it to our brain. Our nervous system controls everything that our bodies do, from basic functions like respiration and heart rate, to more complex actions like thinking and speaking. But because the nervous system is so complex, it can be difficult to pinpoint a problem when something goes wrong. For many people, painful or distressing neurological symptoms go unexplained for years as they search for the right diagnosis. With new advances in genetic testing, though, these patients are finding relief and the answers they’re looking for. Read on to learn more about how genetic testing will help those with neurological disorders.
What is Genetic Testing?
When someone experiences an alarming neurological symptom like unexplained pain, partial paralysis, muscle weakness, seizures, or difficulty with reading and writing, they need the proper treatment quickly. However, because there are many different genetic factors that cause neurological symptoms, patients often go through multiple treatments and tests, often without finding relief. Because these symptoms can be caused by so many different factors, doctors are usually unable to get it right on their first try.
The good news is that advancements in genetic testing have made finding the root cause of these symptoms easier. DNA testing takes a look at either part or all of your unique genetic makeup, looking for abnormalities that may be causing your disease. Here are the three main kinds of DNA sequencing that may help patients get an accurate diagnosis for neurological conditions:
- Targeted panel testing – this type of testing takes a look at a selection of between 50 and 300 genes that are most likely connected to disease. This type of testing delivers results quickly and is the most cost-effective route for most patients.
- Whole exome sequencing – this type of testing examines a small part of a person’s entire genome. Researchers look specifically at the genes which are most likely to have caused this disease
- Whole genome sequencing – this type of sequencing takes a deep look into a patient’s entire genetic makeup. Around three billion genes are examined during this comprehensive analysis, which can reveal not only neurological diagnoses, but the potential for other diseases as well. This type of testing is suggested when the symptoms are of a completely unknown genetic origin, as a broad look at a person’s entire genome can help doctors spot new genetic variants which may be causing symptoms. Whole genome sequencing takes time, though, and can be rather expensive.
Depending on your symptoms and what other methods have been tried in the past, you and your doctor can work together to decide which kind of genetic testing is right for you.
Enhancing Patient Care
There are endless benefits to using genetic testing to help diagnose and treat neurological conditions. First and most importantly, patients can receive more accurate diagnoses quicker than they would when using other methods. This means that they can avoid unnecessary, ineffective, and sometimes invasive treatment methods and instead understand what exactly is causing the patient’s symptoms and what medicines or therapies will work best.
Having an accurate diagnosis can help patients understand if there is a potential for their disease to affect other family members as well. Genetic counseling can help a patient’s family members understand if there’s a chance that they also have similar genetic makeups and what their risk is to develop similar symptoms. This way, they can take preventative steps and seek the care they need before they even start to experience symptoms.