Darrell Rebouche (Host): What if the answers to some of our biggest health questions are written in our DNA? Genetic testing is changing the way we understand disease, identify health risks, and make informed decisions about the future. But knowing when genetic testing is appropriate and understanding what the results actually mean can be complicated.

In this episode of Health on Point, presented by Willis-Knighton Health, we explore who should consider genetic testing, what the testing process looks like, and how genetic counseling can help patients make sense of their results. Our guest is from, Willis-Knighton Health and is an expert in genetic testing, a nurse practitioner, Alicia Schollmeyer. Alicia, thank you for being here.

Alicia Schollmeyer, MSN: Thank you so much for having me.

Host: So, tell us about genetic testing.

Alicia Schollmeyer, MSN: All right. Well, genetic testing evaluates multidisciplinary issues. We can identify who may be at risk for different healthcare conditions. That can span using either adults or children could be affected by hereditary cancer, inherited cardiac conditions, autism, developmental delay, neurologic conditions, rare disorders, even things like connective tissue disorders such as Ehlers-Danlos syndrome, or we can even use genetics to screen for cancer in your blood. Do you have cancer right now? And also, we can determine what medications might work best for you.

Host: What does genetics testing process look like? I mean, what does it involve and is it accessible for everyone?

Alicia Schollmeyer, MSN: Yeah. So genetic testing, actually the test itself is the easy part. Most of the time, it's just a cheek swab, or sometimes we have to do a blood test. The more complex work comes in choosing the right test, explaining those outcomes, what it looks like, and interpreting those results so that we can help you figure out what you're going to do about that risk.

Host: You listed a lot of things that genetic testing can help with or can help understand, help diagnose. One of the things you mentioned is Ehlers-Danlos syndrome. I suspect a lot of people don't know what that is, but Willis-Knighton is receiving international attention because of the way it's approaching EDS. Can you tell us about that, please?

Alicia Schollmeyer, MSN: Yeah. So, the Ehlers-Danlos Society internationally recognized us as healthcare professionals in their directory as a knowledgeable healthcare provider. And we're excited about that because we are getting patients from multiple different surrounding states and helping them coordinate their care regionally.

Host: That is a feather in Willis-Knight's cap. But what is EDS, Ehlers-Danlos syndrome?

Alicia Schollmeyer, MSN: So, EDS is a complex connective tissue disorder that can be inherited by genes, but it may not be. Connective tissue provides the structure and support for our whole body. That includes our joints, our skin, blood vessels, muscles, supporting tissues like ligaments, tendons. It also affects your internal organs as well. And there are different forms of EDS, some of which we have known genetic markers for. And then, there is hypermobile EDS, which is a bit different.

Host: Okay. So how is hypermobile EDS different from the other types?

Alicia Schollmeyer, MSN: So, hypermobility in and of itself is not EDS. So, people think that, "Oh, I'm flexible, so I must have EDS," and that's not necessarily the case. And that's the important part of what we do here at Willis-Knighton Genetics, is that we help to stratify whether or not that hypermobility is actually connected to a connective tissue disorder. Is the hypermobility symptomatic? Like, are you hurting all the time? Is there joint instability? Do you have a problem with proprioception, like you're walking and you just jump, run into a wall, for example? Different things like autonomic symptoms, dizziness, GI symptoms, neurologic problems, even pelvic or urogenital health.

Host: Wow. It feels like EDS can be difficult to diagnose. Is that true? And if so, do you know why?

Alicia Schollmeyer, MSN: So, EDS is quite difficult to diagnose. It's not just a matter of your flexible joints and how many of them you have, or if there's even some kind of party trick that you can do that no one else can do. There's a whole clinical criteria that has been outlined and is diagnostic of hypermobile EDS.

So, genetic testing cannot actually find a gene. There is no gene as of this moment that has been identified for patients with hypermobile type EDS. There are others like vascular EDS, kyphoscoliotic EDS, et cetera. But with hypermobile subtype, you actually have to fulfill this clinical criteria, which includes, you know, how stretchy is your skin? Do you have the ability to touch your thumb to your forearm, for example? So, there's a lot of information that we go through. What kind of scars do you have? What does your stretch marks patterns look like? We do a full head-to-toe assessment assessing for how wide your wingspan is, for example. can you do crazy stuff like get your thumb way over here? That's a pretty unique thing. So, there is a set of criteria, and you have to meet multiple different aspects of those criteria in order to meet the EDS, hypermobile EDS clinical criteria.

Host: And everybody's trying all those things.

Alicia Schollmeyer, MSN: As well they should.

Host: Well, you need to know. So, how has genetic testing changed our understanding of EDS and medicine's ability to diagnose it and approach it?

Alicia Schollmeyer, MSN: So, genetic testing can help us stratify risk, and that's what's the most important. If we know you have vascular EDS, for example, we know that you have an increased risk for thoracic aortic aneurysm dissections. Well, that comes with an important screening mechanism of a CT angiogram or echocardiogram to see whether or not that is affecting you specifically.

And also, it helps us to determine whether or not you may need some sort of intervention. It's not just the testing, it's the whole person and what they're experiencing, whether they have a lot of pain or their shoulder is dislocating. That's a very common thing with EDS, is you can have joint dislocations, and that comes obviously with a lot of pain, and pain management may be appropriate.

And that's one of the biggest things that we do here within our EDS high-risk clinic as part of the genetic, clinic here. We help to stratify what the risks are. What are you experiencing? What red flags do you have? Is there weakness? Is there dizziness? Are there some sort of other symptoms that isn't associated with EDS? Because we are whole beings, we don't just have one thing, and sometimes our patterns of symptoms are not exactly related to EDS. And so, we need to be looking for those things. Not everything is caused by EDS. And so, that is important to understand.

Host: This is Health on Point, presented by Willis-Knighton Health. We're discussing genetic testing in general, and at the moment, specifically talking about Ehlers-Danlos Syndrome, something you may not know a lot about. And so, it's certainly worthy of discussing. Our guest is Alicia Schollmeyer, a nurse practitioner and an expert in genetics testing at Willis-Knighton Health.

Alicia, I know people love to get online and research these things, maybe even try to diagnose themselves, or at least get a general idea of what they're dealing with. And as always, especially with something that isn't as mainstream as maybe cancer, EDS is kind of a niche topic. There's probably a lot of misinformation out there. So, what are you seeing that people are coming to you, they misunderstand, maybe they're misinformed, the kind of misinformation that you have to fight?

Alicia Schollmeyer, MSN: Right? So, online information can help patients recognize patterns and feel less isolated, understand their complex diagnoses and things. But there are a lot of misconceptions out there. Like, I mentioned some people say, "I'm flexible, so I have EDS," but that's not necessarily true. There are some other associated findings.

Another thing is people think that if your genetic testing is negative, that you can't have hypermobile EDS. But in fact, we know that if we do genetic testing and your test comes back negative, but you meet the clinical criteria for hypermobile Ehlers-Danlos syndrome, then you actually have hypermobile Ehlers-Danlos syndrome.

Another misconception is, like I said, every symptom must be caused by EDS, but that's not necessarily true as well

Host: Okay. Well, if someone suspects they may have EDS, it's better to be safe than sorry, right? What are the first steps toward finding out?

Alicia Schollmeyer, MSN: So, the first thing to do is to write down your symptoms. Understand what your major concerns are. Do you have joint dislocations? Do you have instability of your joints? Have you broken several bones? Do you have some weird scarring and skin fragility? Do you get sick real easy? Some of the other things that you can see are hernias, pelvic or uterine prolapse, other cardiac findings like easy bruising as well.

And then, look at your family history. Are there others that are also experiencing the same thing? Are there aortic aneurysms in the family? Is there an unexplained cardiac condition or sudden death? That can be a clue. And then, reach out to your primary care physician or specialist, or even reach out to us, and we'll help you figure out whether or not genetic testing is for you.

Host: Like any disorder, disease, illness, it can affect an entire family. And if someone in the family is diagnosed or suspected to have EDS, how can family members support them?

Alicia Schollmeyer, MSN: Well, the most important thing, and I can't stress this enough, is that our function in EDS patients, it fluctuates from one day to another. They may be able to participate fully in life one day. And then, the other day, need to use a mobility aid like a cane or a walker. That variability doesn't mean that the symptoms aren't real or they're inconsistent.

Every day is a new day. We have new ability one day, more strength, we've slept better, we've taken better care of our health, we've eaten better one day. And the next day, we may feel a bit better. And then, supporting doesn't mean also to treat someone as if they're fragile or they're unable to participate in life, because oftentimes they can.

And the most important thing that you can do is ask them, you know, ask them, "How can I best support you today?" And then help them do that. Also, another thing though is that there's a lot of no pain, no gain mentality in the everyday person. But in EDS, actually simply pushing through every symptom can lead to a crash and actually debilitate them more in the long run. So, appropriate accommodations from day to day is important.

Host: Careful, thoughtful, discreet observation, vigilance, as well as open communication. That's what I'm hearing you say, that that's really important when you're monitoring the progress, the changes in these EDS, patients. You also alluded to coordinating care. You have to coordinate with, you know, several different disciplines, your family, your healthcare providers. Why is coordinating everything so important?

Alicia Schollmeyer, MSN: Yeah. So, that's one of the things that we here at Willis-Knighton Genetics is taking very, very seriously. Coordinated care is important because you need someone who's going to look at the larger picture and then see if those symptoms are problematic enough to see a specific specialist. And then, that specialist could include things like physical therapy.

it could include a cardiologist for orthostatic intolerance, a gastroenterologist for gastrointestinal dysfunction. There may be need to see a neurologist for migraines or even a sleep medicine as sleep apnea has been associated with EDS in some certain circumstances. So, multidisciplinary care is very important to treat the whole patient and also to keep care from being fragmented and repeating testing that's unnecessary. Having a medical home to identify your specific red flags, it's very important.

Host: Let's broaden our discussion about genetic testing in the time we have remaining. Can people in the community just advocate for their own health and seek genetic testing on their own? How does that work?

Alicia Schollmeyer, MSN: Yes, they sure can. So, the main thing, talk to your family, okay? You don't know what you're going through with your family if you don't talk to each other. So, learn a little bit about the diagnoses that are in your family. And if you know that information, then you can go to your doctor and ask them to refer to genetics for evaluation. You can also go to our website. We have a Get an Appointment tab in our website that you can self-refer if you think that that may be something that you need.

Host: Spent a lot of time talking about EDS today, but another thing that's really prominent in what you do is genetic testing for cancer, cancer risks. Can you outline how genetic testing helps cancer patients?

Alicia Schollmeyer, MSN: Yeah, for sure. So if we know that you are at risk for breast cancer, for example, then we're going to want to screen your breast tissue much more frequently than we would someone else who didn't have cancer risk. So for example, BRCA mutation carriers that have an increased risk for breast cancer up to 80% in some cases.

And so if you know that, there may be even a pill that you can take that would reduce your risk for breast cancer. Also, if you know that you have a risk for ovarian cancer, then maybe you go in and you take out your ovaries when you're no longer using those. So, it can be very helpful in taking proactive steps to help claim your care back prior to any kind of problem that can occur.

Host: All of this can be unsettling, even scary for people, especially for things they don't know about, like EDS, or things they've had a lot of experience with and are frightened of for all the obvious reasons like cancer. So, careful communication with the patients is really important. It's vital. So, what are your communication tools for helping people understand how genetic testing is helping them and how they can apply it to their own care?

Alicia Schollmeyer, MSN: So, what we do is we get the test result back and we look at it and we see is there a pathogenic mutation? And if that is there, then what risks are associated with it? We talk a lot about what we're going to do about that afterwards. And then, there's also a risk for negative results to come back. And that's not a bad thing. However, if you still have a family history, there may be some important things that you need to do in order to care for yourself as well. And we outline that for patients even if they're negative.

Host: When we first started talking, we mentioned that Willis-Knighton had received international attention because of what we're doing with EDS. I think a lot of times people don't appreciate the level of healthcare that's available right here. And this is a validation of that. And you don't want to be excited about somebody having a disease, but you do want to be excited about the idea that we can help people at a very high level right here at Willis-Knighton Health. Can you talk about just what that means to the community and what that means to what you do?

Alicia Schollmeyer, MSN: Yes. So, we have got some amazing specialists. It's amazing that we can do what we do locally. There's specialists that have been internationally recognized, like our radiation team in the cancer center, for example, stroke team. Those are amazing accolades for sure, and I applaud them for doing all the work that they do. If we can work together and if we can get the specialists that are required for a particular care, and they're all knowledgeable, they're all willing to help. And I think that we've got some really good doctors that are willing to listen. And I think that's some of the most important pieces as well.

Host: Like so many things in the world today, genetics testing is advancing at a very, very rapid pace. What excites you? What's next? What's the next big thing?

Alicia Schollmeyer, MSN: Well, we've got multi-cancer detection testing, early detection testing. It's called MCED. That's really right around the corner. Insurance isn't covering it just yet. But like I said, we are lobbying. Personally, we are llobbying here at Willis-Knighton to get coverage for that test.

It tests for cell-free DNA. And what that does, it's actually a blood test for cancer, and it can detect up to 50 different cancer types. And if that's positive, then we can go on and do scans, and often we are finding those cancers early when they're very small and barely even picked up on imaging.

And so, I think that's the wave of the future. Genetics also is helping guiding treatment options. If you have a specific genetic alteration in your cancer or, you have a genetic alteration that reduces your body's ability to break down certain medications, then we know that medicine isn't for you, or this medicine is for you.

It's very much precision medicine, and it is coming to the forefront in all we do. So, I hope the providers are ready because they're going to be seeing precision medicine more and more and more based off genetic information.

Host: We feel your what And, that is so wonderful, and I know the patients are so much better because of people like you out there just keeping it real, keeping it on the forefront, keeping those fires burning. And Alicia Schollmeyer, a nurse practitioner with Willis-Knighton Genetics. Thank you so much for everything you do. And thank you for joining us for Health on Point, presented by Willis-Knighton Health.