Advances in genetic medicine make it easier than ever to screen patient DNA and determine patients’ risk of many common diseases and conditions. MUSC Health is offering such testing in a first-of-its-kind population genomics initiative in South Carolina called In Our DNA SC. It will be available at no cost to the first 100,000 South Carolinians that sign up. In this episode of Advance with MUSC Health, Daniel Judge, M.D., explains the program. He is a cardiologist, professor of medicine and a translational scientist at MUSC Health who specializes in inherited cardiovascular disorders.

“If you carry a genetic tendency to cancer or heart disease, what's the risk of passing that on to the next generation or having affected relatives with the same condition? Sometimes if you're the person in your family who's brave enough to go ahead with something that really is pretty straightforward (DNA screening), you'll be able to provide not only benefits for your own health, but for your family members.”
- Daniel Judge, M.D.

Topics covered in this show

• Judge says DNA screening is a powerful tool because it helps patients and physicians understand if patients are at an increased risk of certain conditions.
• The new In Our DNA SC program will be rolling out to MUSC Health patients soon, offering genetic screening for certain conditions at no-cost to the first 100,000 South Carolinians that sign up.
• Nine genes will be analyzed to screen for: hereditary breast, ovarian and colon cancer as well as elevated cholesterol or hypercholesterolemia. In addition to that, information will be provided related to your ancestry and other genetic results related to wellness.
• It is a saliva test, done at MUSC Health that typically takes a few minutes to complete.
• If there are any concerns a genetic counselor will follow up with the patient to talk through the results and offer preventative strategies from lifestyle changes to medication or additional testing. 

Read a transcript of the episode below

Erin Spain, MS [00:00:05] Welcome to Advance with MUSC Health. I'm your host, Erin Spain. This show's mission is to help you find ways to preserve and optimize your health and get the care you need to live well. Advances in genetic medicine make it easier than ever to screen your DNA and find out your risk of many common diseases and conditions. MUSC Health is offering such testing, and a new first of its kind population genomics initiative in South Carolina called In Our DNA SC. It will be available at no cost to the first 100,000 South Carolinians that sign up. Joining me to discuss this exciting opportunity is Dr. Daniel Judge. He is a cardiologist, professor of medicine and a translational scientist here at MUSC Health who specializes in inherited cardiovascular disorders. Thank you so much for being here.

Daniel Judge, M.D. [00:01:00] Well, thanks very much, Erin, and it's great to be here.

Erin Spain, MS [00:01:02] You've been studying inherited heart disease for much of your career, and you're currently the director of the MUSC Cardiovascular Genetics Program. Tell me about your interest in genetics and how far genetic medicine has come in the past few decades.

Daniel Judge, M.D. [00:01:17] Yeah, actually, it's been really exciting to watch all of the changes that have occurred over the last 20 years. My interest in genetics is often getting to the bottom of a condition. When someone shows up to see me and they have a condition that we can't explain or shrug our shoulders and say, Well, it's idiopathic, or it might be because they weren't taking care of themselves. We can sometimes dig deeper and find a genetic cause or a better answer for why that condition occurred for that individual person. The changes that have occurred are just mind breaking at times 20 years ago when I started to do this. Costs were enormous. We would look at one gene at a time and it would be thousands of dollars. And today the technology has really improved to the point where for that same amount of money, we can sequence all of the genes, and at times it can even do it for low cost or no cost to a participant,

Erin Spain, MS [00:02:06] Explain the power our genetic information has to predict our risk of certain diseases and diagnose conditions.

Daniel Judge, M.D. [00:02:14] Well, that's a really important point. I think people sometimes think of a genetic risk as a blueprint to the future or an automatic like this is going to happen. And that's certainly not the case. When I look at genetic tendencies, I think tendency is the key there. It's not an automatic answer that something will occur. It's not a prediction of the future. It's not a crystal ball. It helps you understand, are you at increased risk of this condition or is your risk sort of flat or similar to the regular population? So it's an important marker of risk, not necessarily a prediction of the future.

Erin Spain, MS [00:02:47] Tell me about this exciting opportunity In our DNA SC? Tell me about this program and what it can do for people in South Carolina.

Daniel Judge, M.D. [00:02:54] For people who are willing to do so and interested in signing up, we will provide for free, comprehensive DNA analysis. It starts off with the release of nine genes, and those nine genes target these three conditions hereditary breast ovarian cancer, right? Colon cancer, which is often called lynch syndrome and elevated cholesterol or hypercholesterolemia. In addition to that, there is information provided from the company that we're working with on your ancestry and some other more hobby like genetic results. And in the long term, we'll have applications of this DNA to specific genetic conditions, many other genetic conditions, partly at a clinical level, to say, Well, why do I have this condition and partly at a research level to say, why do certain conditions exist? So it's an enormous project which takes on both clinical aspects direct patient care for you, population screening aspects, health of South Carolina and research to understand disease better.

Erin Spain, MS [00:03:54] The company that you're working with. Tell me about the company and what they've been able to do and other states around the country and some of the successes they've had.

Daniel Judge, M.D. [00:04:03] Yeah, they're called Helix, and they're really well known right now in DNA sequencing. And they've been in the news a lot with some of the work they've done with COVID 19 and sequencing when we find something like the Delta variant or newer variants that are coming along. It's companies like that, and Helix has been part of that effort to understand strains of the COVID virus. On the other hand, they have done similar projects as the one in USC is going to take on in the near future at other sites around the country, essentially doing the same type of work to do population health care screening within the community and genetic risk prediction.

Erin Spain, MS [00:04:42] So let's play out a scenario here. Someone's going to participate in the program and the results come in. How are those results interpreted and relayed to the patients? And if something does come up and near the screenings, what happens next?

Daniel Judge, M.D. [00:04:56] Let me start by addressing one of the things that sometimes comes up as a question. Of is this research, and the answer here is yes and no. The results of this work are available clinically and for a research lab to be able to release a clinical result, it has to have a clinical certification that's called a clear certification CLIA. And that certification allows them to give a direct report, not just a research answer that's given to a research team that's doing work but directly available for health care. It's entered into the medical records. The great majority of people on this first pass of screening will have a normal handful of genes that we look at. It's nine genes for the three conditions that I mentioned, and roughly one percent of the participants will end up having a clear abnormal gene related to breast ovarian cancer, colon cancer and hypercholesterolemia or elevated cholesterol. Those types of results will be given to people with genetic counseling. I am uske genetic counselors given to their primary care physician and entered into their medical records so that it can be used to help screen and recognize the risk and help to be proactive about that information.

Erin Spain, MS [00:06:09] Well, because again, the goal of a large scale screening like this is to be able to treat patients sooner and better and really move into this personalized or precision medicine for all. Isn't that right?

Daniel Judge, M.D. [00:06:22] Yeah. So I like to think of this as knowledge is power. And I think sometimes people consider a DNA results a scary idea, right? DNA, it's high tech. It's potentially going to predict the future, and that's certainly not true. Technology isn't that novel anymore, and the the ability to predict risk is really what we're looking for. I used to, if I can, very public examples or high profile cases. And they're both in the cancer sphere, one of whom is a famous actress, Angelina Jolie, who's been very public about her experience. She recognized her family history of cancer and her family, and she decided to proactively be tested for abnormalities in a breast cancer gene. She found that she had it, and she announced later that she went ahead with bilateral mastectomy and removal of her ovaries to prevent breast cancer and ovarian cancer. Certainly an extreme approach, and that's not required for someone who identifies a risk like this, but we certainly target screening earlier. We start mammograms earlier. We use higher tech screening devices like MRI of the breast to look for breast cancer for someone who's predisposed with an abnormality in one of these genes. On the other hand, Chadwick Boseman, famous actor from here in South Carolina, was diagnosed with advanced colon cancer at the young age of 39 years. If you talk to your primary care physician, if you're old enough and they might be saying at the age of 50 or so, we'll use a more recent American Cancer Society recommendation, suggesting around age 45 that you should start to go through surveillance colonoscopies younger. We get with those types of recommendations. The more cancer we'll find, but the more likely it is that you'll have an unnecessary test when you start getting into pretty young ages. So isn't there a better way to target risk? And there sure is. There are people who are genetically predisposed to colon cancer can be identified for their risk and focused early for screening. And if you don't carry one of those strong genetic factors, then go back to standard population screening.

Erin Spain, MS [00:08:22] Walk me through the process right now with your patients after they've been screened and something shows up. What happens next to walk them through the results and to possibly make lifestyle or medication changes?

Daniel Judge, M.D. [00:08:36] That's exactly the right way to think about it. We aren't doing this as a curiosity. We're doing this to be proactive about health. The idea that knowledge is power. You can use these results to prevent the problem that's being investigated. Not that it's something that will inevitably affect you. For instance, if there is a genetic tendency to high cholesterol that actually serves as an additive factor in addition to your cholesterol level to predict your risk of heart disease. So, for instance, two people with the same level of LDL cholesterol that's called bad cholesterol say it's high enough to be of concern. So it's 160, which is too high for bad cholesterol. Your risk of heart disease is a whole lot worse if it's at that exact same level and there's a genetic predisposition so that someone who we would be even more aggressive about lowering the flasher, all getting them on the right treatments to prevent them from having early cardiovascular disease, atherosclerosis affecting the heart and other parts of the body.

Erin Spain, MS [00:09:36] You mentioned before that something that could happen if something was found in a screening like this is that you would meet with a genetic counselor. Tell me about genetic counseling services offered at MUSC Health and why that's so important as part of this process.

Daniel Judge, M.D. [00:09:53] Let me say that I think genetic counselors are a huge part of this effort, and it recognizes a lot of interest at MUSC to explore. And our genetic counseling just in the last couple of years, Musk has invested in hiring more genetic counselors across several fields within our medical institution. The results are in this initial phase of the project that we're starting focused on breast and ovarian and colon cancer, as well as hyperlipidemia or cardiovascular risk. So we've recruited genetic counselors and the Hollings Cancer Institute, as well as in the cardiovascular group that I'm directing. And for people who are recognized to have a clear abnormality in one of these genes, those results will be provided in conjunction with genetic counseling rules that mean a genetic counselor will not only talk to you about what these results mean and how they work, and what are the implications for you. But importantly, what are the implications for family members and how to family members recognize their own risk? And are they automatically affected, or will they develop an increased risk based on additional testing?

Erin Spain, MS [00:11:03] What are some things people can do to research this themselves or conversations that they could have? Who could they have conversations with to empower them and make them feel more comfortable taking part in a program like this?

Daniel Judge, M.D. [00:11:15] And those are some great questions. I think there's a lot of people who may be wondering about this project and wondering if it's for them. This is not a blood test. This is not one more needle. It's a pretty easy test to do. You spit into a container that we use for the DNA. I think the reasons are the rationale why I do one more thing. We've made it as easy as possible for you. We've made it as easy as possible for your primary care physician. And there's clearly direct implications for you. And there's also potentially implications for your family members. Do you have children, for instance? You know, if you carry a genetic tendency to cancer or heart disease, what's the risk of passing that on to the next generation or having affected relatives with the same condition? So sometimes if you're the person in your family who's brave enough to go ahead with something that really is pretty straightforward, you'll be able to provide not only benefits for your own health, but for your family members.

Erin Spain, MS [00:12:09] You mentioned this as a saliva test, and it involves spitting into a tube. So just have you done this yourself? Yes. Yes. Just kind of walk me through. How long did it take you? What was it like?

Daniel Judge, M.D. [00:12:21] Yeah, it's interesting, as I've at times been the person collecting that saliva sample. Sometimes it's one or two minutes to just come up with a small amount of saliva. And other people, for instance, struggle because of a very dry mouth. And I think it's the rare person who really can't provide a saliva sample, and we have some other mechanisms that we can use for getting a DNA sample. But a long way of saying it's a pretty easy test to undergo takes about five minutes, and the results come back pretty quickly.

Erin Spain, MS [00:12:49] How can listeners find out more about this program, and when would they be able to sign up?

Daniel Judge, M.D. [00:12:54] Be on the lookout for all of that. There's a couple of ways we're going to be doing this. One is going to be through your primary care physician. You may be able to talk with them about this project in the near future. We'll also be reaching out to people through my chart. So if you have a my chart account and you have an upcoming appointment, you may receive a message that says, Are you interested? Please sign up for this project.

Erin Spain, MS [00:13:14] My final question is what do you do to optimize your health and live well?

Daniel Judge, M.D. [00:13:19] Well, Erin, I try to practice what I preach. I certainly maintain a good activity level and my diet, I hope, is a good one for my own health. Just try to live right.

Erin Spain, MS [00:13:31] For more information on this podcast, check out advance.muschealth.org.