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Scott Webb: There have been remarkable advancement in genetic testing for cardiovascular issues and armed with our family history and working with genetic counselors, we can help identify and address heart issues and high cholesterol before we suffer an early or sudden heart attack. And joining me today to take us through this process is Dr. George Lolay. He's a cardiologist with Franciscan Health.

This is the Franciscan Health Doc Pod. I'm Scott Webb. So doctor, thanks so much for your time today, when it comes to cardiovascular issues, why is knowing your family history so important and how do you recommend that we gather this info if our relatives have passed?

Dr. George Lolay: So, this is a really good question. In order to answer the first part of it, it's important in the sense that finding genes that can cause or increase the risk of childhood or adult-onset disease, looking at also at genes that can influence or alter how patients respond to medication and tailor the therapy based on the individual himself.

And now to answer the second part of the question, what we need our patients to do would be over time, working with their physicians, is to enhance their literacy when it comes to cardiovascular genetics. We can do that by having them ask their siblings, parents about early-onset heart attacks, high cholesterol that runs in the family, the presence of sudden cardiac death in the family itself or just having unknown cause of death in otherwise relatively healthy individuals. Best case scenario to do that or inquire about the family history is in a minimum of three generations in order to have a better understanding of the disease or the genetic predisposition itself.

Scott Webb: And generally speaking, are some diseases just more hereditary in nature than others?

Dr. George Lolay: They are. And that happens in multiple diseases and multiple organs too. So if we want to talk about the heart, we can put the genetic heart disease under four broad categories. Number one would include channelopathies or in simple words, basically have abnormal channels or gatekeepers within the heart cells themselves. And that would lead to what I refer to as malignant or bad rhythms with subsequent sort of cardiac deaths. So the first one is channelopathies or abnormal heart channels.

The other one, the medical term for it would be cardiomyopathies or in simple terms, heart failure weak heart. So some families tend to have early onset of heart failure within their families. The third category is aortopathies or dilated aorta, and those patients tend to have a progressively enlarging aorta over time. And at some point, it would just suddenly rupture and also cause sudden cardiac death. And I think the fourth one, people tend to be more familiar with it, which is familial hypercholesterolemia, which in other words is family history, strong family history of high cholesterol. And so in those families, in the simplest term, you would have high cholesterol with early onset. So when you're 24, 30 years old, you might have just significantly high cholesterol, which obviously leads to early-onset heart attacks.

So to summarize cardiac genetic diseases, you have four categories either channelopathies cardiomyopathies, aortopathies or familial hypercholesterolemia.

Scott Webb: And as you say about the high cholesterol, we know that, especially with early-onset, if you will, that it's more important than ever for people to not only know their history, but to have that checked if they think that there's any chance that it runs in their family that there's a hereditary connection. And speaking of those connections, how did genetic testing for certain kinds of cancer, like breast cancer, inform the testing that's now being done for hereditary heart diseases?

Dr. George Lolay: So in breast cancer, for example, there is more awareness among our population about breast cancer in general. So with breast cancer, there are certain genes that determine and can help tailor and direct the medical therapy or chemotherapy regimen for our patients. So some of them might respond to a certain chemotherapy based on the genetic sequence compared to other patients.

So we take the idea where we try to individualize medical therapy and we try to apply it to heart disease. The simple example again would-be high cholesterol. So say, we identify patients who have family history of high cholesterol, familial hypercholesterolemia, our goal would be at that point, once we identify those individuals, is to treat them aggressively and as soon as possible in order to reduce their future events or risk of major events, including heart attacks, risk for strokes and heart failure.

Another example would be patients who have abnormal channelopathies or sudden cardiac death from heart etiologies other than heart attacks. For example, if you have what we call hypertrophic cardiomyopathy, those patients would benefit from a defibrillator, which is a small device that would go underneath their chest. And in the case they develop an abnormal rhythm, it would shock them out of the abnormal rhythm. So in summary, the genetic component of heart disease, in general, helps us tailor the intervention or the medical therapy to the individual himself.

Scott Webb: Yeah. And it sounds like there are some genes that can help predict who's at higher risk for heart disease and sudden heart attacks, right?

Dr. George Lolay: Correct. And so there are multiple genes that we have identified so far that basically can cause either early onset heart failure, dilated aortas or high cholesterol, but for the individuals who are listening to this podcast, as we're speaking, it's not really important for them to know the actual gene name, but what you need to know is that once you identify a family problem, a cardiac problem, that has a family component into it, we can really tailor the medical therapy or the intervention towards that problem and towards their genetic code specifically.

Scott Webb: We'll leave the specific names of the genes to the experts like yourself. As you say, the important thing is to just know, to recognize, to diagnose that there is a familial connection and then, you know, to do something about it. And when we talk about doing something about it, and then the cardiac genetic counseling, what's involved with that? It's really more than just evaluating gene sequences, right?

Dr. George Lolay: It really is. And I'm glad you asked that question because there isn't a lot of clarity when it comes to understanding what genetic counseling involves. So, first and foremost, physicians are only part of that equation. And we have well-trained genetic professionals that are board-certified genetic counselors, and they have a huge part in genetic counseling in general.

So when it comes to an individual or a patient himself, once I establish there might be a strong family component or a genetic component, I would schedule those patients to meet one of our genetic counselors. And then they would sit down, educate the patient about the strengths and limitations of a particular genetic test. And once we obtain their consent, we would get a blood sample and we would run the blood sample and test it for certain genes depending on what we're looking for.

And once that test result returns to the ordering practitioner, multiple things happen at the same time. So the counselor himself will indicate whether a genetic variant has been identified or not. And if so, we will send a letter to the patient and then we would call the patient and try to educate them about what we find. And then the genetic counselor himself would refer the patient back to, in our case, a cardiologist. At that point, we would sit down with the patient and try to identify what we need to do next, whether it's medical therapy or intervention or further testing.

Scott Webb: And doctor, when it comes to family history, you know, the exact cause of death may not be reflected in an autopsy, meaning that the cause of death listed might've been a car accident, but the real cause could have been a heart issue. And does this really complicate things?

Dr. George Lolay: A little bit, but that's why it's important to have that open dialogue between us and patients. And so the family history or the genetic component of it is really just one factor. So once we sit down with the patient, we'll go over their family history, their own past medical history and we try to identify other risk factors, whether they're environmental risk factors.

And then if needed or if the physician himself thinks that, "You know what? There might be a genetic component contributing to this problem," then we might refer those patients for genetic testing in order to obtain more evidence and have more information regarding that patient himself. So it's more of a team effort and that team would have us and the patients working together.

Scott Webb: Yeah, that's great. I love the approach, the team approach, and get as much information as you can, make the most informed decisions, recommendations that you can. That's really awesome. And doctor, as we wrap up today, I know that genetic testing can often be a family affair. Can you discuss the importance of meeting with as many family members as possible as you look to prevent heart disease and early or sudden heart attacks?

Dr. George Lolay: Yeah. So it's really important at this day and age to have a good knowledge and solid understanding of your family history, and it's really not a whole lot of work. So we need to sit down with your immediate relatives, so your siblings, parents, grandparents, and try to ask, "Did anyone in my family have early-onset heart disease or cancer, diabetes, thyroid problems?" Because it's not just the heart where we care about the family history, it's other diseases as well.

And our goal as provider is to educate our patients about attending that history, because it really helps us identify early problems in an early fashion and, if needed, tailor the medical therapy towards the individual himself based on the data points that we have from them. And again, the more data we have, the more educated decisions we can make.

Scott Webb: It's amazing to me that, you know, what we're talking about here with genetic testing, whether it's cancer or heart issues, but 20 years ago or more, it would have seemed like the science fiction, you know. But here we are. Really fascinating stuff, doctor. Thank you so much for your time and you stay well.

Dr. George Lolay: Same to you. And thank you guys for having me on your show as well.

Scott Webb: To learn more about it genetic counseling, talk with your doctor or cardiovascular specialist. And for more information on heart care at Franciscan Health, visit FranciscanHealth.org/heartcare. And we hope you found this podcast to be helpful and informative. This is the Franciscan Health Doc Pod. I'm Scott Webb. Stay well and we'll talk again next time.