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Neurogenetics & the Diagnostic Odyssey: Q&A With a Neurology Genetic Counselor

A patient and provider discussing neurogenetics and genetic counseling appointment

When I was 15, my friend's dad went to a neurologist. He’d been having dizzy spells for weeks. Vertigo, they said. Six years later, he died, possibly from a stroke. Was it related? We don’t know. But I do know that when my friend, his daughter, got dizzy, I got worried. Did she inherit a neurological condition?

These are the kinds of questions Chelsea Chambers, MS CGC, helps people untangle. She’s a genetic counselor at UVA Health with a special focus in neurogenetics.

Here, she shares answers to patients’ common questions about neurogenetics, genetic counseling, and testing for neurological conditions.

Who Can Genetic Counseling & Testing for Neurological Conditions Help?

You should seek out genetic counseling and testing for a neurological condition when:

We offer counseling and testing for these neurological conditions.

What’s the Difference Between Genetic Counseling and Testing?

Genetic counseling is the process of meeting with a genetic counselor to review the best options for genetic testing and the possible results.

Genetic counseling also takes place after genetic testing. This conversation helps a patient understand:

Genetic testing is when a sample is collected and sent to a lab to look for specific changes in a person's genetic information that could be related to disease. 

What Are Some of Your Patients’ Biggest Concerns When They See You?

Many patients are concerned about cost. I can talk with them about different lab policies and the best approach to testing to try to limit costs. 

Thinking About Neurological Genetic Testing?

We can help you better understand what this could mean for you and your family.

Patients are also typically concerned about what the future will look like. We discuss how finding a genetic cause could help us determine what types of symptoms a patient might experience in the future.

However, even when a genetic cause is identified from genetic testing, no patients are the same. Even patients with the exact same genetic disorder will present differently. A genetic counseling appointment helps guide patients and families through this uncertainty. 

If Someone’s Genetic Testing Comes Back Negative, Are They in the Clear?

There are two ways that we can think about negative genetic testing.

#1. When a patient has a known family history of a genetic variant, and they are having genetic testing to determine if they have the same genetic variant and are at risk for this disorder. If their testing is negative, then they did not inherit this familial genetic disorder and are not at an increased risk of developing symptoms.

#2. However, a second scenario, when there is not a known genetic variant associated with the symptoms in the family, is more complicated. If testing is negative in this situation, we are unable to know if the affected individual had a genetic variant that we could identify or if they would have also been negative for this testing. We call this an “uninformative negative.”

Even for families with a clear genetic disorder, sometimes we are unable to find the genetic cause of their symptoms. For these families, we recommend checking back every few years to see if additional genetic testing is needed. This is not because a patient’s genetics can change, but because our knowledge and technology get better over time.

What Do You Want More People to Know About Genetic Counseling & Testing?

People don’t have to proceed with genetic testing just because they meet with a genetic counselor. A genetic counseling appointment is meant to spend time talking with the patient and/or family about options for genetic testing and deciding if genetic testing is something that they want to pursue. We are a resource that is available to patients so that they can make an informed decision about genetic testing. 

When Have You Seen Genetic Counseling Make a Big Difference in Someone’s Life?

I have 2 examples.

Giving the Pain a Name

One young patient who had many health concerns, such as epilepsy, intellectual disability, GI issues, and gait abnormality. He had seen many providers over the course of his young life, but no one had been able to tell his parents why he was so sick. This patient saw me, reviewed the options for genetic testing, and decided to proceed with this testing.

The results identified a genetic variant associated with a specific, severe disorder. Even though the results were difficult for the family to hear, they were so thankful that we had figured out what was going on for their child.

Unlike other cases, this result did not change his management; he was already seeing everyone that he needed to see. But the family was able to provide a name to what their child was experiencing. Their diagnostic odyssey had finally ended, and they now had an idea of what the future might hold for their son.  

Testing for Alzheimer’s?

Another patient was referred to me due to their family history of Alzheimer's disease. In this case, there was only a single family member affected and they had onset of symptoms in their 80s. I was able to reassure this patient that this diagnosis was likely due to age-related risk for dementia and was unlikely to have an underlying genetic cause.

Ultimately, the patient decided they were not interested in genetic testing, because they were reassured based on our conversation. However, they can always change their mind and reach back out to me to proceed with testing. 

Tags: neurology

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