Genetics and cardiology partnering for heart health

Podcast: Drs. Cassie Hajek & Tom Stys explain how preemptive genomic screening helps patients

Genetics and cardiology partnering for heart health

Episode Transcript

Editor’s note: Sanford Health offers a DNA test called the Sanford preemptive genomic screening. At the time of this podcast recording, it was called the Sanford Chip.

Simon Floss (Host): Hello, and welcome to Innovations. A podcast series brought to you by the experts at Sanford health. You’re listening to our 15th episode, ‘a chip you can trust.’ I’m your host Simon Floss with Sanford Health News.

The practice of medicine goes far beyond clinic walls. The Innovations podcast looks at the biggest issues facing healthcare today. Each episode offers the opportunity to see the everchanging world of health and wellness through new eyes. Our leaders offer out-of-the-box solutions to some nagging questions.

Today we’re learning the ins and outs of how Sanford is using a patient’s genetics to calculate their risk for health problems later on in life. Our experts joining us to help paint that picture are Dr. Cassie Hajek, an internist geneticist and is the medical director of Sanford Imagenetics, and Dr. Tom Stys, who who’s the interventional cardiologist and medical director at Sanford Cardiovascular Institute.

Well, with those titles, it’s safe to say that both of you to stay pretty busy.

Dr. Tom Stys (Guest): Very true.

Dr. Cassie Hajek (Guest): Yes.

Host: So, in case people don’t know who you are, let’s have our audience get to know both of you a little bit. How long have both of you been at Sanford? What’s your job or jobs look like on a day-to-day basis?

Dr. Hajek: Well, I’ve been at Sanford since 2012? I started here as an internist, but took a leave a few years later and went for my medical genetics training. And since I’ve been back, I lead the Imageneticsprogram, and I have an adult genetics practice and internal medicine practice.

Host: Dr. Stys?

Dr. Stys: Well, I’ve had the privilege of being with Sanford for almost 20 years. Sounds like a lot of years, but to me it seems like I just started yesterday. 

Host: They really fly by, don’t they?

Dr. Stys: They do, and you know, it’s like he mentioned ever changing world of medicine. I like to think ever changing world of cardiology, interventional cardiology, and it’s been a very fascinating dynamic time. And I think that’s why it went by so fast.

Host: One of the things that we’re going to be talking about here today is called the Sanford Chip. This is an incredible topic that we’re covering for the people who don’t know, what exactly is the Sanford Chip?

Dr. Hajek: Yeah, so the Sanford Chip is Sanford’s preemptive genetic screening program, and really what it allows our patients is to do a genetic screen, which evaluates genes that are involved in drug metabolism. So, how our bodies you know, deal with medications, certain medications, and then patients are also offered the opportunity to get some disease predisposition risks. So, we have some of the genetic predispositions to cancer on the Sanford Chip. Some of the genetic predispositions to various hereditary cardiomyopathies, conditions that lead to enlarged heart. And so then once a patient goes through this program, the information that is taken from the chip is put into the medical record and it provides our physicians with some decision support that helps them use that information when it’s needed for the patient.

Host: Now, Dr. Stys, last time that we talked about this topic we uncovered the truth that you’ve recommended this to nearly 600 patients in your time, probably even more, if we’re being serious. How is the Chip such an innovative approach to medicine?

Dr. Stys: I am fortunate enough to specialize in practice this whole spectrum of cardiology from, you know, preventive care through maintenance and management of established disease to emergencies, interventional cardiologists, cardiology when patients come crashing and you know, a heart attack shock, et cetera. And, you know, it’s always bothered me that the scope of the problem is so serious.

It’s the number one killer, as far as health care is concerned than disease at the same time, it’s so preventable and treatable. And it’s just sad when you see a 50-year-old father you know, have a heart attack, cardiac arrest in the emergency room, you know, teenage kids crying, and then all of a sudden dropped on them from nowhere.

And at the same time, if you really think about it, this disease didn’t start that night or there it started a while back. And so, the question of how do we identify those patients at high risk of having a heart issue is extremely important. And so, we have the conventional medical predictors, you don’t diabetes, hypertension, obesity, lack of activity. We have the so-called calcium scoring that identifies plaque and those patients are in their 40s, 50s.

It’s useful, but we don’t have a tool that is very much personalized and identified. And then the individual from the beginning of their lifetime and their risk for heart disease. And when I get a question of when is the right time of when to start worrying about heart disease, my answer is always as early as possible. And so, having a genetic personalized information that will predispose that individual to life-threatening the most common condition that kills at the young age and being able to intervene in the preventive way is extremely important.

So, personalized medicine, genetic testing, I hope is the near future of our cardiovascular medicine identification of individuals, combination of that with preventive lifestyle modification, medical intervention prevention, and hopefully we’ll finally start making heart disease, not the number one killer. 

Host: Quick follow up question to that, you know when we were covering just a story about heart disease in general, a radiologic technologist, I remember she gave a very powerful quote. She said that, “heart disease doesn’t happen overnight.” You alluded to that in your answer. Off the top of your head, can you think of any other health systems that are doing anything like this, or is this truly just how innovative Sanford is?

Dr. Stys: We have been fortunate with Dr. Hayek to collaborate and actually be part of national, international efforts in research to further advance the field of cardiac genetics, specifically pharmacogenetics. And maybe I can let Dr. Hajek comment on that, but we have been privileged to co-author a very interesting groundbreaking paper.

Dr. Hajek: Yeah. We are fortunate at Sanford that I really think that this is an innovative program there. You know, this, this chip launched in 2018, and it is different and more advanced than I think most of the preemptive genetic screening programs that are out there today. There certainly are other programs that offer testing for disease predisposition or pharmacogenetic testing.

Nobody else really puts it together like we do. And no one else, no other health system has really implemented it and integrated it into the medical record in the way that we have, which is so key to the implementation of genomics in medicine, because it’s not new to everyone, but it’s not something that everyone’s doing on a day-to-day basis.

Not every physician is a geneticist. And so, it’s really important that if we’re going to provide genetic information back to our physicians, to care for our patients, we need to be able to help them with that information and the interpretation. And so that’s a really key piece of our program that sets us apart from the rest. And as Dr. Stys alluded to, we are now working with other collaborators across the country and even across the world actually to advance our understanding of the contributors, the genomic contributors to disease, particularly as it relates to heart disease.

Host: So, a couple of terms that we’ve already been throwing around here today, I just want to make sure that everybody knows exactly what they are, a disease predisposition and PGX testing. What are those? 

Dr. Hajek: Right. So, and this is always a question that comes up with the genetic terms. They’re a bit unfamiliar. And so, we try to find ways to talk about them that’s a little bit more accessible, but disease predisposition means that this can come in a lot of different ways.

For example, we talk about a cancer predisposition condition. So that’s something like lynch syndrome or hereditary breast and ovarian cancer due to BRCA1 and 2, there are hereditary cardiomyopathies, so that’s a disease predisposition to cardiomyopathy. And so, these are things that come from a mutation in just a single gene, and we can test for those mutations.

PGX is just the shorthand version of pharmacogenetics, which is a mouthful. And again, it goes back to how do our genes impact how our bodies deal with medications? 

Host: Fascinating. How does the Sanford chip through disease predisposition and PGX impact patient care? 

Dr. Hajek: So, on the disease predisposition side, what we’re finding as you know, more and more people get genetic testing is that some of these rare diseases are maybe not as rare as we initially thought. And so, there are still a number of individuals out there who have a diagnosis that they are not aware of because they haven’t gone through a genetic testing program. Now this isn’t relevant for everyone, but familial hypercholesterolemia.

If we’re talking about the cardiology space this is a really good example of a condition where historically we would use LDL cholesterol, your bad cholesterol to maybe target somebody who could be at risk for having familial hypercholesterolemia.

I’m going to say FH from now on less of a mouthful. But, we’re seeing there’s a bit, a lot of data that shows those patients may not have a really high LDL cholesterol, like you would expect. It might be just kind of on the high end of normal, or maybe just a touch higher than you would expect, and they actually have FH, but before you wouldn’t have maybe considered that, now we know that we can do genetic testing.

It’s a lot more accessible since the cost has gone down significantly, and we can identify those patients so that we can get them the treatment that they need to reduce their very increased risk for heart disease.

Host: Dr. Stys, anything that you would want to add to that?

Dr. Stys: I think that’s a pharmacogenetic testing has made a huge difference in patient management in our world, especially of interventional cardiology. We are one of the few sites in the country that offer genetic testing to see the patient, given a blood thinner, to protect them from a stent, placing their heart quilting off and causing a disastrous consequence is going to work. So unfortunately, most places do not have a way of testing.

Whether a patient is sensitive to Plavix is the name of the medication. It is used routinely in the cath lab after stent placement, stenting of coronary arteries or fixing of a blockage in the hearts is the most commonly performed surgery procedure in the world. So, you can imagine there’s lots of patients. About a third of patients actually will not be sensitive like a normal person.

So, we’re giving them a medication that we think is protecting them and letting the stent heal up, but it’s actually not working as well as we think. So, we have implemented Plavix genome typing over the, I would say five, six, seven years ago, and it is a standard of care in the cath lab.

That’s very progressive. So, that’s just one of the many examples where pharmacogenetic testing has made a big impact, you know, on our patients’ outcomes.

Host: Switching gears here, polygenic risk scores – why and how do we develop these?

Dr. Hajek: So, another mouthful, I guess, polygenic risk score. So, we know that many common diseases are impacted by our genetics. You know, that because people whose parent has heart disease are at increased risk, than if their parents didn’t have heart disease and so small genetic changes that impact many different genes can impact this, either increase or decrease that risk.

Historically, we haven’t really been able to quantify that, but because genetic testing has become so much more accessible, the cost is declining and we’re able to do a lot at one time, we can actually quantify those small genetic changes that contribute to an individual’s risk and then a polygenic risk score actually summarizes the impact of those changes to say a person’s genomic risk for a common disease such as coronary artery disease is this.

And, and it can put them in a high genomic risk category or a low genomic risk category, or somewhere in the middle. It actually allows you to put you put people in a risk category as to how they compare to others. And so, it really is another way to add to risk stratification for common diseases, which is really exciting. Because there’s always a piece of piece of that puzzle that we hadn’t been able to look at before. And to we’re now able to do this with the polygenic risk score. I don’t know if you want to add? 

Dr. Stys: Sure. So, as I mentioned earlier, heart disease is a huge problem for us and I look very much forward to some kind of a genetic risk scoring process, that’s going to be very reliable and in a reliable fashion, identify patients at highest risks or that we can start intervening at their childhood age and hopefully prevent the bad heart disease in the future. We have already started looking into that at Sanford and we have initial patients there and they’re old and consented to validates the information that we have already acquired through our research and others. I hope that’s in the near future, we will be able to provide a genetic risk score into, to just about any patient who walks into the door and will benefit not just to them individually, but actually the whole family and future generations

Host: In both of your opinions and expertise, what does the average person need to know as far as where Sanford is at within the polygenic risk space? 

Dr. Stys: From a cardiovascular perspective, as a preventative and interventional cardiologist specialist is the way I like to view myself, I really can’t wait to have a final product of our efforts where yes, you will come up to our front desk and we will offer genetic risk scoring from a simple blood test to you and your whole family. At this point, we are at a validation stage where it’s still a research project, but I do hope that in the near future, it will be a standard of care. 

Dr. Hajek: Yeah, I would say I would just second that we’re very close and cardiovascular disease is probably the foremost area where we see the greatest amount of evidence for the use of polygenic risk scores for patients to help identify those at greater risk. So, it’s really exciting that we have a team of cardiologists led by Dr. Stys that we have the genetic testing capacity and the administrative support to put these kinds of tools together. And, I really see the polygenic risk score for heart disease is opening the door for looking at polygenic risk for other health conditions. For example, breast cancer or osteoporosis. There are just a number of areas where it will provide some really exciting clinical utility for our patients.

Host: One last thing I want to touch upon is, you know, how do patients undergo the Sanford Chip?

Dr. Hajek: So, it’s so it’s a blood test. And essentially if a patient is interested, they can just ask their provider, their primary care provider. They can also go online and indicate that they’re interested and they’ll get a message through their, My Chart. So, they need to be on My Chart. We sometimes have specials, but it’s most typically offered at $49, which is significantly less than you’ll see other genetic test options out there. And the information that you get back from that Sanford Chip lives in your medical record. So, it gets used over a lifetime. Yep. With Sanford. Yeah.

Dr. Stys: Yeah. From my perspective, as a practicing physician that offers those in my clinic, I’m most impressed with how well our genetic colleagues have developed the process where it hardly impacts any patient flow, so to say, in the clinic. And, at the same time, I do not believe it’s even a significant burden for patients, because usually we do genetic counseling and everything that’s necessary, as far as consenting to Chip while patients are waiting for other orders to be done. And so, I think it’s an additionally entertaining process, an interesting one for our patients. So, we appreciate that. 

Host: Well, Dr. Hajek and Dr. Stys, thank you both so much for your time today. I know, especially right now, everybody’s busy so really thank you for sitting down and doing this.

Dr. Hajek: Thank you for having us.

Dr. Stys: Thank you.

Host: Before we wrap up today, a couple of housekeeping items. If you’re looking to hear more on how the Sanford chip has helped the patient firsthand, we’re working on a testimonial story that you are not going to want to miss. You can look for that story and more stories at

Also, a reminder that the Sanford Health Innovations podcast is now available on your favorite podcast apps like Apple and Spotify, as well as our website, Sanford Health News. If you enjoy this conversation, follow us, give us a thumbs up, and share your comments. We do love hearing from you and hope you find these conversations insightful.

Thanks for listening. I’m Simon Floss with Sanford Health News.

Posted In Heart, Innovations, Internal Medicine