Ep. 2: In medical genetics, knowledge is power

DNA testing is an additional tool in patient care, says Dr. Cassie Hajek

Cassie Hajek speaking into microphone

Episode Transcript

Jacqueline Palfy (Host): Hi, my name is Jacqueline Palfy and I’m here with Sanford Health News. We are recording one of our Innovations Podcasts today with Dr. Cassie Hajek with Imagenetics. Hey, how are you today?

Cassie Hajek, MD (Guest): Great, how are you?

Host: I am A-OK. So, we are here to talk a little bit about personalized medicine. Can you tell me what exactly that is?

Dr. Hajek: Well personalized medicine, it might sound kind of like isn’t that what I get on a regular basis? But over the course of time, we’ve been able to add components to medical care and when we talk about personalized medicine today, that often includes some component of genetic testing that might help with certain areas of your care such as medication prescribing or even helping to identify how we might better screen you for certain diseases depending on the case.

Host: I think when I think about genetic testing, I always think about rare disease or people with certain cancers who want to make sure they have targeted therapy but as a healthy person, why would that benefit me to do this?

Dr. Hajek: You’re right. Genetics has really been born out of rare disease and that’s given us actually a great platform to learn about other parts of the genome. And so, as the field has grown, we’ve been able to develop applications that actually do apply more broadly for people that may not have a concern for an underlying genetic condition. So, as a healthy individual, I think that pharmacogenetics can be a powerful thing to have, pharmacogenetics meaning how your body’s genes impact how your body metabolizes medications. And you might say, I’m not on a medication, so why do I need this?

It actually is probably most effective to have that information before you are ever prescribed anything. So, having that information at the time of prescription when your doctor is sitting in front of you in the room and saying OK so you know what, let’s try an antidepressant or let’s try a cholesterol medication.

Having the genetic information available to let him or her know what is the right dose, maybe we should try one class versus another class of drugs. It can be very powerful and help you get to a more effective medication, more quickly and potentially help you avoid adverse side effects.

Host: You know when you mentioned the cholesterol and I know that there are certain kinds of cholesterol that they are just inherited right, there is nothing you — no lifestyle change you can really do that will change that and you can find that out through the Sanford Chip test, right?

Dr. Hajek: Yeah, so, through the Sanford Chip test, you have kind of two main components of it. Anybody who gets the test will get the pharmacogenetics side of things and again, that’s how your body’s genes impact how you metabolize drugs. And it incorporates several common medication classes. So, I mentioned antidepressants, cholesterol, there’s some anti-clotting medications that are on there. So, all patients who do the Sanford Chip would get that.

If you are interested in having a screen for certain types of conditions that are genetically inherited, so medical conditions like something where there’s a unnaturally elevated cholesterol level that’s called familial hypercholesterolemia. It’s a mouthful. But it is something that is — if we can identify that in patients, we can help to understand why their cholesterol is high and in some cases, a statin will do the trick, in other cases, you need more advanced medications.

And it can be really powerful for patients to learn that information because sometimes it’s very frustrating if you are living a healthy lifestyle, your weight is under control, you are eating the right foods, you are exercising, and that cholesterol just won’t move.

There’s a risk that that’s actually due to a genetic condition that no matter what you do, it’s not going to change; the medication is what’s going to help you out. And then that reduces your risk for heart disease significantly.

Host: So, and you wouldn’t know that otherwise.

Dr. Hajek: You wouldn’t know that.

Host: You would just be trying all of these things and getting nowhere while your risk of other things keeps growing, right?

Dr. Hajek: That’s right. And actually, familial hypercholesterolemia, let’s just call it FH, so that is a condition that is underdiagnosed. We miss about 90% of those diagnosed with it. Yes, and the reason being is that the historic thinking was that well, I’m going to be able to target that and know that because the cholesterol is high, so that should have been caught during a visit. Well, it turns out, that in that condition, sometimes your cholesterol might be in an OK level but over time, it changes and it’s the lifetime exposure to high cholesterol that is really causing that very significant increased risk for cardiovascular disease.

So, our previous ways of checking for it weren’t doing a great job and the genetic testing can help us do that.

Host: So, we’re talking about what this means for me as a patient, right? But how has it changed how you practice medicine or even just your feelings about what you can say to your patients?

Dr. Hajek: Yeah, so I think what we — how we kind of like to describe it is that it’s an additional tool in our toolkit of how we care for patients. So, it’s certainly not replacing anything. It’s more information.

So, in my mind, I always think that knowledge is power and so this is kind of what allows us to enhance our knowledge about a patient. So, having that additional information about your pharmacogenetic response to things is very helpful. And knowing, as a physician, knowing the way Sanford has done this I think is very unique and it’s quite extensive as compared to other health care organizations in the fact that within our electronic health record, we have it programmed so that your result dictates what the physician sees at the time of prescribing. And so, as a physician, knowing that I have that resource and that support available for this type of information is huge.

Many of us during our training didn’t have exposure to this type of care and it’s new and so, as an organization, at Sanford Health, we’ve really put an emphasis on providing the resources to help our doctors use this information in a meaningful way. So, there are a number of things that I think have great benefit in offering this type of test to patients not only from the patient perspective but the clinician perspective as well.

Host: And it has to be pretty exciting. It takes some of the — not the guesswork is maybe not a great word for it — but at least you know that you’re starting down the right path with someone who may have an unusual response to something or that must just be rewarding. You know you are going to be able to help this person a little bit faster and exciting. But it has got to be exciting.

Dr. Hajek: Yeah, no right, I think it’s great to have that additional piece of information that can help get you the right treatment sooner. And certainly we have sort of over the course of time used trial and error to a certain degree because the studies that we base our treatments off of, all of the evidence that we use and I would say in general, most providers use an evidence-based medicine approach but those are done, those studies are done in populations not in individuals. And so this type of information helps us really be able to pinpoint what’s going on with the individual from that perspective.

And it’s important to note, too, that this isn’t the only factor that impacts how a patient responds. There are other biochemical changes in the body that may impact their metabolism. There are environmental things, lifestyle things, so it’s, again, another tool in our toolkit that just helps us kind of hone in on exactly what our patient needs.

Host: It just goes back to sort of that whole person approach. Right, it is one more little piece of the puzzle. I read something that was — the question is not does treatment x work but who does treatment x work for. Which is — to me was sort of a fascinating way to think about it. And you talked a little bit about antidepressants and mental health is all over the news, all the time. And an important message to get out there about taking away a stigma about asking for help and we’ve done so much of that at Sanford with counselors embedded in our clinics and different screening tools.

But the thought that when you do go and ask for help, that you could get on a medication that will help you feel better faster instead of waiting six weeks or eight weeks or three months to find out this isn’t working for me and in the meantime, you just feel bad or your patient feels bad or your spouse feels bad. That to me, is life saving in a completely different way than cancer drugs or heart drugs. Can you talk a little bit about what that’s like to know that when you are talking to a patient?

Dr. Hajek: Yeah, it is — a lot of these medications are tough because you may not — first of all, they take a little while to work and so, regardless of whether or not it’s the right medication, you can’t really know for a few weeks and maybe a couple of months.

Host: And harder to measure.

Dr. Hajek: And harder to measure. Yeah. And that’s I think one of the complicating factors about treating conditions like depression. It manifests differently in different people. And so, yeah, I mean having the pharmacogenetic component at the onset of treatment can really add a level I think of confidence that you are doing the best you can to get to the right medication.

And it’s again, I don’t want to over-promise that that is the medication for you, but it provides some additional information to say based on your genes, and this medication and what we know about your metabolism, this seems to be the right starting dose and the right class and then we still have to try it out. And it may not be the right one but it’s our best answer for the starting point.

Host: You know when we were talking about why you as a healthy person might want this. And you and I both have kiddos and sometimes that can bring a whole different kind of stress or postpartum depression or anxiety or oh my gosh now I have to try to go to the grocery store with two kids. This is never going to work, right? I’m just going to stay home. Or more serious conditions.

And so, if someone is thinking about having kids, it might be the right thing to go in and do some of this testing to know that if something like that — those feelings were to start to happen, again, you would just have a — your doctor would have a little bit more information to help you through that.

Dr. Hajek: Yeah, it’s an added level of knowledge about the individual that can help, and it is best to have the test before you need the information.

Host: It saves you time.

Dr. Hajek: It saves you time and right, it gives you the information at the time you need it. So, you don’t have to wait. So, if you decided to do the test at the time you need the drug, then you have a little bit of a waiting period, but this allows you to have it before that even happens.

Host: So, once you get the test done and it’s a simple blood draw, right? Do you ever have to be retested as new — I don’t even know how to say it, as new genes are discovered or what’s the phrasing?

Dr. Hajek: Well right. So, the way the test currently works is that we return a specific set of information to patients and that information is available on our Sanford Imagenetics website and our knowledge of the components of genes that contribute to how we metabolize medicine continues to grow so, we have plans to expand our testing to include those changes. Similarly with the disease predispositions.

So, the current platform that we use should be sufficient for us to review over time and return it to patients. That said, the technology is constantly growing so there may be a time when we offer even more expansive tests which potentially would require retesting. But the goal is with the current test that we would be able to review that and incorporate any of the new information and return it to the patient as we in the field deem medically important.

Host: And I think it’s important to remind folks that these — the things that we test for are things that you can do something about.

Dr. Hajek: Yeah, right.

Host: No scare tactics here. All hope is gone with this test.

Dr. Hajek: No, no, what is the value of saying oh you have an increased risk for heart disease if we can’t do anything about it? So, we’ve been very thoughtful and specific about how we’ve decided which genes to return. These are things where — so on the pharmacogenetic side, there are guidelines based out of an organization called CPIC and that organization helps to translate the research into clinical guidelines and how we use that information.

On the medical conditions side, these are conditions where if you are found to have a change in your genes that increases your risk say, for example, breast and ovarian cancer. There are actions you can take to help reduce that risk. And I should say, too, the Sanford Chip is a screening test.

So, for patients who are concerned because they have a family history of breast cancer or ovarian cancer or early onset heart disease, we would really highly recommend that they see one of our genetic counselors prior to going through that testing because there might be something else — another test that could be more appropriate for them.

Host: Man, can we just give a shout out to the genetic counselors? I have talked to them for so many different things through Sanford and they are so thoughtful and so amazing, and they always remind us that just because you come and talk to them does not mean that you have to get a test done. And that they can help you really understand why you might want to, why you might not, how this may affect your family and ethical questions you may have, data storage questions you may have, and they are an outstanding resource.

Dr. Hajek: They are an outstanding resource and we are very fortunate at Sanford Health to have I think over 25 across our entire organization which is I think probably the most in the country for a health care system the size of ours. And so, it is a resource that we are grateful for and we would strongly encourage our patients to take advantage of because like you said, they can provide all of that additional help in understanding what is my risk and it doesn’t commit you to a test.

And in some cases, the point is we’re helping to say maybe you don’t need something. So, it’s a great resource that people should take advantage of. We’re proud of that.

Host: I think it’s amazing and as we talk about Imagenetics and the Chip, it’s just another way that it’s a way to treat the whole patient from thinking about it to taking it to taking action and then managing whatever it is we discover. So, thank you so much for coming today and talking with us and I’m sure we will be talking to you again soon.

Posted In Genetics, Innovations