Once in your life, you should have this done
Dr. Superko is currently the Executive Director of the Center for Genomics and Human Health at the Translational Research Institute at St Joseph’s Hospital in Atlanta, Georgia. He was Medical Director of the Lipid Research Clinic and Laboratory at Stanford and, prior to that, Medical Director of the Cholesterol Research Center at the University of California, Berkeley.
A leap forward
If Dr. Robert Superko has his way, a lot of highly paid heart surgeons will be out of work shortly, or at least getting a whole lot less business. Dr. Superko is among an elite group of cardiologists focused on preventive health, on getting to the patient and the family before they succumb to disease. Dr. Superko’s methods, which involve a regimen of tests (including the deCODEme genetic tests) have been extremely effective in preventing the occurrence of heart attacks. As he told us, using standard treatment of patients with cholesterol and heart disease, the typical reduction of heart attacks is 25%. His rate, when working with the National Institutes of Health, is a reduction of heart attacks by 80-90%.
It began with follow-ups on efforts to treat key risk factors for heart disease. Working with the most advanced cardiologists in the field, Dr. Robert Superko and his colleagues at the National Institutes of Health learned that “heart disease was still progressing despite all the efforts we’d made to lower cholesterol and treat high blood pressure and all the other standard risk factors. It became clear that something else was going on.”Through a study funded by the National Institutes of Health, he found that “a number of phenotypic markers (blood markers influenced by genotypes) clearly related to heart disease risk, and if you changed these markers heart disease risk could actually get better. Many of these markers actually had an inherited link. Some are transmitted in a dominant fashion, and you can find them in approximately 50% of the family members.”
“Heart disease is essentially a genetic disease,” Dr. Superko explains, “and if we look for it we can find inherited causes of heart disease in 80-90% of the people that we find. So that’s useful if you’re the person with heart disease, because we can say look, I know why you have heart disease. And there’s treatment for many of these things, and we can really individualize treatment to the person with heart disease. So we give them a therapy that’s specific for that person.”
For a man interested in revamping health care significantly, though, there is a still greater use for genetic research. “More important (than individual treatment) is the family members. If you’ve had a heart attack, what’s the likelihood that your brother or sister might have one? Or your children, if they’re adult?”
The process lead to the formation of the California-based Family Heart Disease Clinic, 15 years ago. At the clinic, Dr. Superko and his peers would go to people in the hospital with a heart attack and say `We can do a series of tests and help you figure out why you have heart disease. But now let’s go to your first degree relatives, your brother and sisters and adult children, and if we find something in you, we’ll test for the same thing.’ He adds: “It’s been phenomenally successful. People love this. The public loves it. The only problem is it’s very time-consuming, and, of course, you don’t make any money doing it.”
And the role of genetic tests like deCODEme? In Dr. Superko’s opinion, the deCODEme tests constitutes a leap forward: “It used to be that a lot of genetic tests were very expensive and very esoteric. Now, they’re actually quite common and you can actually get them for relatively reasonable prices. So that really expands this concept of finding out why you have heart disease, and furthermore, let’s go to your family members and find out if they inherited the same thing that gave you heart disease.”
Applying deCODEme tests in patient care
The applications of genetic tests like deCODEme for the physician, according to Dr. Superko, are twofold: “The one is doing some kind of genetic test that gives you predictive knowledge: what’s the likelihood you’re going to develop heart disease or cancer or some other medical problem? So that’s useful because you can give the person some indication of probability. `Your chance of having a heart attack is two times greater than the average person, or three or four times.’ As a patient, that tells me I need to listen to that and do something different. It’s very similar to saying oh your blood pressure is really high, or your cholesterol is really high. That’s a useful piece of information.”
The second use for these tests is just as important, possibly more so, according to Dr. Superko. “People don’t fully appreciate as much is it helps to guide your therapy. There’s a whole series of genetic tests that might help you to understand what type of medication might be most helpful. There’s a whole series of genetic tests that tell you what kind of diet might be the right diet: for example, are you sensitive to salt in your diet, and if you eat that your blood pressure is going to go up? Or maybe a very inexpensive diuretic drug is the right drug to use for you if you have high blood pressure.”“So there’s the predictability component, but then there’s actually the treatment component. And this has changed dramatically in the last five years, and people and physicians need to understand this because they can very inexpensively apply it to their patients for the betterment of the patient.”
The benefits of the genetic test, Dr. Superko claims, are clear and immediate – with the added feature that deCODEme tests require only one, noninvasive sample, and material stays on file at deCODE as research continues.
The research angle makes deCODE particularly attractive: “I find it absolutely fascinating that once the analysis is done, that data sits someplace in electronic format, and if a discovery is made three years from now that a certain series of genetic variants lead to rheumatoid arthritis for example, suddenly that information can be given to the person tested, because it already exists. They don’t have to have an additional test. So as the science moves forward, the information can be downloaded.”
A hypothetical case
The leader in the field of preventive medicine gives us a hypothetical example of an ideal candidate for deCODE testing.
“You’re a 48-year-old man, and you have a family history of heart disease. Your dad had attack at the age of 56. Your mom had some cholesterol problems, maybe a little heart disease, you’re not sure. But there’s reason to be concerned. You’ve had your cholesterol checked every year. You’re an executive. You’ve had your treadmill test as part of your executive exam. And you’ve been told every year that you’re fine. So the standard physical and the standard exams look good for you, but your dad had a heart attack when he was 56, and you’re a bit worried. So you say let me see if there’s additional information that will help clarify whether or not I’m truly at risk.
“One possible test is the MI gene. The MI gene is obtained and it lights up. You’re homozygous, your risk, is really a lot higher for this. Well, what do you do with this information? Do you go home and worry, or do you actually do something? Well, there’s actually things you can do. The first thing you do is you can say are there any other phenotypic blood tests that can help clarify this. Again, anywhere from 20-50-percent of people at risk for heart disease have no standard risk factors whatsoever. Here’s a guy who fits in that category. This is a subgroup in which more sophisticated blood tests might be useful. What type LDL do you have, there’s seven different types. What type of HDL do you have, there’s five different types. And the LDL and HDL cholesterol numbers don’t tell you what type you have. It’s driven by a genetic issue that we’ve worked a lot with at the University of California at Berkeley. A very important risk factor for heart disease. You don’t know you have it based on cholesterol measurements.”
There are other tests you can do on blood that don’t test genes, but the effects of the genes. And they light up, and then you know the risk for heart disease that you previously did not know about.
“Once you have those tests, you go on to say `Do I actually have heart disease at all?’ And a very common test that’s available all over the United States now is a coronary artery calcium scan. So you’re 48 years old, you’re still relatively young. You say `Should I spend $300 to get this scan done?’ Well, let’s see, you have a gene test. You have a blood test that says something is wrong. What you really need to know is do I have heart disease yes or no. Because the therapy you’re facing is put a lot of energy into your lifestyle. Or are things bad enough that you’ll need to get on some drugs. So the decision is lots of drugs versus lifestyle.
“If you have that coronary artery calcium test, and it’s zero, you’re not totally off the hook, because you’re still young, but it says we have some time. Things haven’t calcified yet. And therefore let’s really aggressively go after lifestyle. If the calcium test comes back, and it’s lit up, you say here’s a 48-year-old guy, he has the heart disease gene, his risk is higher, we’ve documented he has heart disease now with this coronary artery calcium scan, and we know what’s wrong with him phenotypically. We’re going to give you lifestyle changes and push the medications because now you’re in secondary prevention.”For this hypothetical, and for a great many more patients, the Dr. Robert Superko has a basic list of benefits behind the deCODEme profiles: “With this test you’ll get information that goes beyond cholesterol and hypertension and all the standard issues that you’re concerned about. So if you’re concerned for heart disease risk, you say fine its a cheek swab, it’s not even a blood sample, it only costs a couple hundred bucks, and you’ll get the information. Furthermore, you only have to do it once in your life. So many of the blood tests we do in medicine we do every three months or six months. This you do once and you’re done.”