Genetic Screening For Cancer With Kevin Hughes, M.D.

Finding out your genetic risk of different cancers can be an important part of life-saving early detection and preventative cancer care. But, which genetic screenings should patients look into, and how far has this technology come in detecting which people are at higher risk of certain cancers? Kevin Hughes, M.D., has been at the forefront of genetic cancer screening since the mid-1990s and shares insights. He is the Director of Cancer Genetics in the MUSC Department of Surgery and the McKoy Rose, Jr., M.D. Endowed Chair in Surgical Oncology.

“Genetic testing still harkens back to the days when it was scary, and it was expensive, and it was a problem and people were worried about doing it. I want people to understand that genetic testing is something that helps with your health. It's like any test that's scary. Getting a mammogram is scary. You might have a cancer. Getting a colonoscopy is scary, and we have to have a polyp removed. All these tests can be scary, but they're in your best interest.” 0151 Kevin Hughes, M.D.

Topics covered in this show

• Hughes details how genetic testing for cancer started in the mid-1990s when much was unknown about the field of cancer genetics and how it has gotten more specialized and less expensive since then.
• Because of recent advances in the accuracy of genetic testing for cancer, Hughes says anyone who had genetic testing prior to 2013 should be retested with panel genetic testing, even if they had a negative result initially.
• In Our DNA SC is a new program offered by MUSC Health that allows free genetic screening that Hughes says includes screening of hereditary breast and ovarian cancer linked with abnormalities in the BRCA1 and BRCA2 genes as well as Lynch syndrome, the most common cause of hereditary colorectal cancer. He encourages all MUSC patients to sign up for the free program.
• Hughes says people should not think of genetic testing as scary. Instead, it is another tool physicians can use to help people make informed decisions about their health and future treatments.

Read the show transcript below

Erin Spain [00:00:04] Welcome to Advance with MUSC Health, I'm your host, Erin Spain. This shows the mission is to help you find ways to preserve and optimize your health and get the care you need to live well. Finding out your genetic risk of different cancers can be an important part of life saving early detection and preventative cancer care. But which genetic tests should patients look into and how far has genetic testing come in detecting which people are at higher risk of certain cancers? Here with and say, as Dr. Kevin Hughes, director of Cancer Genetics and the MUSC Department of Surgery and the McCoy Rose Jr., M.D., Endowed Chair of Surgical Oncology. Welcome to the show, Dr. Hughes.

Kevin Hughes, M.D. [00:00:48] Erin, thank you.

Erin Spain [00:00:50] You are a physician scientist who's been involved in the diagnosis and treatment of breast cancer for many years. When did you become interested in cancer genetics and began focusing on the field of cancer genetics?

Kevin Hughes, M.D. [00:01:03] So I've been working in surgical oncology for quite some time. I was very interested in the risk of cancer, as well as treating cancer and working on the risk of cancer. And initially we were talking about family history more or less in general. But then in 1995, the BRCA one gene was identified, and this was our first major breast cancer gene being identified and shortly after the BRCA two gene was identified. So, with these two genes being identified in 1995, I at that point opened up a genetics clinic when I was at Lahey Clinic in Boston and began genetic testing then, and I've been doing genetic testing ever since. It just presents a tremendous opportunity to help patients.

Erin Spain [00:01:46] Well, tell me what are the most common cancer genetic tests available today and who should consider getting one of these tests?

Kevin Hughes, M.D. [00:01:54] So genetic testing has evolved quite a bit. When I first started, you would do a BRCA one and BRCA two test two genes, or you'd look for colon cancer and do four genes or five genes, depending on which test you were using. But the reason was that genetic testing was extremely expensive in the 1990s. Today, the cost of genetic testing has dropped astronomically. So, what we do now is look at multiple genes. At a single time, it was called a panel test. So, with panel genetic testing, now we look for all the cancer genes or a large number of cancer genes at one time. And this could be anywhere from 25 to 80 genes, depending which lab you happen to use. And it costs the same amount that we used to pay for BRCA one and just BRCA two, just two genes. So today, what's called panel genetic testing is the type of testing that we recommend. Anyone who had genetic testing prior to 2013 should be retested with panel genetic testing if they had a negative result initially. And in terms of panel genetic testing, there are multiple labs that do this. So, there are labs across the country that do the panel genetic testing. I don't tend to recommend one lab over another. You want to pick the lab your doctor is comfortable with and all the labs they have their pros and cons, but they all do a good job on this. So, for many of these tests now, the patient can come in to see me and essentially put a little spit into a cup and we send it off and we're done also with the COVID problems we've had recently. What was happening is we would counsel the patient by phone, then mail them a kit. They would spit into the cup at home, send it in themselves and get the results back. So, either a saliva test or a blood test can be used to do genetic testing today.

Erin Spain [00:03:34] Now that does sound pretty easy. So, tell me, you know what barriers stand in the way of people receiving genetic testing today.

Kevin Hughes, M.D. [00:03:43] So part of the barrier is that we have go back to when genetic testing first began. When testing first began in the 1990s, it was very expensive. It was scary. We didn't really know what to do with these patients. Once we identified a mutation, it was all relatively new to us, and we were very careful into who we tested. We put a lot of requirements for patients to have before they could get testing done. A very strong family history. They had to come in and see us twice. They had to go home and think about it, etc. Now we know a lot about genetic testing. We know a lot about what to do for our patients. We know a lot about making the tests cheaper and easier. So today, a lot of those barriers have disappeared in terms of this. But at the same time, many people have held on to the older approach. So, I think the main barrier right now. One of the main barriers right now is that people still think that you have to go to some specialized center to get genetic testing done by a specialized person, when in reality testing can become more universal, can become more of a commodity, can be more done by almost anyone if they have the appropriate backup. So doing the test is relatively easy. You do need to go through some of the informed consent for the patient to do this. But. It's not something that most physicians could not handle when they're educated to do that. But when the test result comes back, that's where you need to bring in the specialist. If there's someone is positive for one of these genes, you need to have someone who's very familiar with that gene, how to manage it and what to do for this patient. So, I think we're moving more and more toward universal testing, almost testing anybody who walks through the door. And in fact, we are opening a project here at MUSC, working with a company called Helix, where we're testing everyone. Anybody over the age of 18 can get tested for BRCA or for the Lynch genes of colon cancer genes. So that's one barrier we're trying to get rid of where patients need to be tested if they want to be tested. And this is being done elsewhere in the country as well. But MUSC is one of the pioneers in this area. The other barrier, of course, is cost. But the cost of testing has gone, gone down astronomically. Many people can afford to pay out of pocket for the test. But for those who can't pay out of pocket again with this Helix test, the testing can be done for free. It's done as part of a project within MUSC, and we can test people who are part of the MUSC system for free. So, we're trying very hard to get rid of these barriers because patients need to be tested. We need to identify the carriers and need to give these patients better care.

Erin Spain [00:06:10] So those tests are for people typically who have not been diagnosed with anything yet?

Kevin Hughes, M.D. [00:06:17] So it depends on hoow you're looking at it. So, there are patients who have never been diagnosed with cancer. There are patients who have been diagnosed with cancer in the past, and we never tested every chest, some as an older test. There are patients who are test who are developing cancer, develop cancer just recently. And for the ones you just develop cancer recently, we need to do urgent testing of those patients, often to get the right treatment for them. So, the population level test is really meant more as a screening test for everyone. When there's no time urgency, you know, the result can take a month or two to come back. But for a patient where you're making a treatment decision, are you going to give this chemotherapy or that chemotherapy? You're going to do a mastectomy or a lumpectomy? Those tests have to be done commercially, not through the Helix project currently, because you need an urgent result back right now.

Erin Spain [00:07:06] Every time one of your patients is diagnosed with cancer, do you offer genetic testing to them?

Kevin Hughes, M.D. [00:07:13] So currently, if a patient has cancer and has a strong family history, which means anyone in the family under the age of 45 with cancer, anybody with ovarian cancer in the family, anybody with multiple relatives with cancer, anybody you know, breast cancer. In that case, people with bilateral breast cancer, breast cancer on both sides. With those criteria, if the risk of having a mutation is high, then we recommend genetic testing before doing the surgery. On the other hand, if the risk of having a mutation is relatively low, the family history is not that strong. I would offer them a Helix project, definitely. And there are some people who test all patients with breast cancer, though that's not always covered by insurance. So, I think offering it to all patients with breast cancer makes sense. But we have to do it in a way that that doesn't put the patient at risk financially.

Erin Spain [00:08:00] So when we're talking about cancer genetics, oftentimes this is a family issue. Tell me about that and how you interact with different generations of the same family at once.

Kevin Hughes, M.D. [00:08:11] That's a very good question. So, if you carry a genetic mutation, that means that your children have a 50-50 chance of having that same mutation. And I've been in a situation where a woman was diagnosed with cancer and her daughter was there with her and the daughter asked about risk. And the mother wants to be tested to help her daughter, not just for herself, but for her daughter as well. So, we usually see that patients, women with breast cancer, especially when you talk about genetic testing, if it helps their family, they are very interested in doing it. But the other point, though, is that it helps them. Also, even a woman with breast cancer can get new information from genetic testing, so it's good for the patient and good for her family. The issue we run into is that I am not the family's doctor, I'm that patient's doctor. So, if the patient has a mutation, I would strongly recommend to her to get her family in for testing. But I can't contact her family directly. Not currently.

Erin Spain [00:09:04] So what happens if you do one of these screening panels and you're identified as high risk of a certain cancers that could be breast cancer, ovarian colon, et cetera? What should you do next?

Kevin Hughes, M.D. [00:09:16] You definitely want to see someone who understands genetic cancer. You need to. We're setting up a clinic here where if a patient has a mutation, we'll see them with a nurse practitioner and a counselor. Try to explain that mutation set up a plan of management for them. This is not a one-time thing, so it's not so much a risk for a cancer. But each gene has its own set of cancers, and then each of those cancers comes on at a different level of risk, depending on the gene. So, for example, BRCA one is just a name for a gene high risk of breast cancer, high risk of ovarian cancer. We recommend MRI of the breast on a yearly basis. And we consider prophylactic mastectomy removing the breast to prevent cancer. We don't say you have to do it, it's just one of the things that's available. On the other hand, for ovarian cancer, the risk of ovarian cancer is quite high, and we don't have good screening, so we recommend the ovaries be removed once childbearing is complete. And for BRCA one, that's about age 35 or so for BRCA two, about age 40. So, we look at how high is the risk, what organs are at risk and when does that risk begin to accrue for that patient? But take another gene ATM. The ATM gene also increases the risk of breast cancer, but not nearly to the level of BRCA one. So, for ATM, we recommend MRI, and we don't recommend prophylactic mastectomy. So, if you have a gene mutation, you need to see someone who understands the various genes and puts together a plan specific to you and your medical condition as to what is best for you and then helps monitor that over time. So, we make sure that you get the right treatment or the right screening, not just today, but next year, the year after and on from there. So, I think this is what we're looking at in terms of what we call a pathogenic variant clinic, and we'll come up with a better name once we get things organized for it. But somewhere where patients with a mutation can come be managed at that point in time and be monitored over time. And in many cases, it's not just me or the genetic counselor or the nurse practitioner taking care of them, but we'll send them off to a colorectal cancer specialist or send them after a gynecologic oncologist or send them to an ophthalmologist. So, making sure we have a good team for that particular cancer gene that covers all the organs at risk.

Erin Spain [00:11:25] You were talking about mutations and genes that are found during these screenings, but if someone is diagnosed with cancer, the cancer tumor itself can have its own mutations. Have nothing to do with your own genes. Tell me about that. Tell me the difference between mutations inside a cancer tumor and mutations that could be found in one of these genetic screenings.

Kevin Hughes, M.D. [00:11:48] Sure. So hereditary cancer is a genetic cancer that runs in the family. And those genes are passed along from mother to daughter or father to son or father to daughter, etc. They are in the germ line. They're there at birth and they increase the risk of cancer. On the other hand, cancer is a genetic disease. So, your genes, even if they're perfect at birth, develop mutations over time. And as you accumulate mutations in certain genes over time, that's what cancer is. It's these mutations in the cancer. We've now learned that we can do genetic testing of the cancer, and what's different is we call genomic testing a set of genetic testing and genomic testing. So what mutations are present in that cancer? And when you know what mutations are present in the cancer, you can then often say what drugs are best for this particular type of cancer. So, there's a drug called a PARP inhibitor. It works very well for BRCA one positive cancers but doesn't work very well for other types of cancers. So, knowing the genetic makeup of the tumor can help us plan treatment versus germline testing can help us. Well, it can also help us plan treatment, but it helps us screen and identify cancers earlier. What gets interesting is that your tumor often has your germline mutations as well in it. So, when we test a tumor, we'll often find out the patient actually has a germline mutation. So, you can find them both ways. But there are different types of tests.

Erin Spain [00:13:13] Your longtime goal as a surgeon has been to minimize the treatment needed and all aspects of breast cancer. Tell me about that and how genetic testing aids you in that effort.

Kevin Hughes, M.D. [00:13:25] Well, the best way to minimize treatment for breast cancer is to do intensive screening. So, as we screen the patient for breast cancer, if we find that cancer early, we can then treat it much less aggressively, often not needing chemotherapy, sometimes not needing to have the nodes evaluated, maybe not needing radiation. So, we want to find cancer early. The standard approach to screening is usually mammography starting at age 40, but a woman with a BRCA one mutation her risk of breast cancer starts when she's twenty-five. If we don't start screening at age 25, she'll likely develop. She could very well develop a large, difficult to treat cancer far before she gets to age 40 and starts her mammogram. So doing the genetic testing helps us to identify patients who need screening earlier, but also people who need more intensive screening. So, we do MRI screening in addition to mammography and for BRCA one positive patient, we do MRI from age 25 to 30 and then at age 30 start doing MRI plus mammography. And by doing that, we can find these cancers earlier and at a time when they may not need as intensive a treatment as they would need if we found them later. And this is true for colon cancer as well if you identify a patient with a colon cancer gene. We do colonoscopies once every two to three years instead of once every 10 years. And if we find a polyp and remove that polyp, we can actually prevent cancer in that patient. So, all of these things can help us either prevent cancer or find it earlier, but we can't do these intensive approaches for everyone we have to limit. A dad to people at extremely high risk in the genetic testing helps define who those people are.

Erin Spain [00:15:03] And this idea behind minimizing the treatment, I mean, some of the side effects are really devastating for some folks who have to go through more aggressive treatments. So, the idea, too, is they're going to have a better quality of life if you can catch this cancer sooner.

Kevin Hughes, M.D. [00:15:19] Absolutely. So, we we're looking to minimize the treatment, but we're also looking to give the right treatment to everyone. So, some patients who have more advanced disease do need more aggressive treatment to have more side effects, to have more morbidity. But it's in their best interest because their cancers are more advanced or more aggressive. But the earlier we can find the cancer, the smaller it is when we detect it, often we can minimize that treatment and get the same outcome, the same cure rate without putting the patient through very aggressive treatment. So, we really want to minimize our treatment. We want to get the right treatment for each patient.

Erin Spain [00:15:53] Aside from genetic testing, what other technology is being used in medicine to help detect cancer earlier?

Kevin Hughes, M.D. [00:16:00] Well, genetic testing is very useful in terms of identifying patients who might need screening more frequently or more intensively. But there are newer screening tests coming along like MRI for breast, so MRI can detect cancers earlier. There is now a DNA test for colon cancer that we can do. So, these are genetic tests, but a different type of genetic test. So instead of doing a colonoscopy, your stool is checked to see if there are any DNA changes that might suggest there could be a polyp or a cancer. We're now looking at blood tests that could detect cancer earlier. Those are very preliminary. I don't think they're ready for primetime as of yet. But eventually, perhaps a blood test could find the cancer earlier than that our other screening technologies. Pancreatic cancer is a very difficult cancer to detect early, but there are studies now being done of ultrasound or MRI of the pancreas to find cancer earlier. So, we're looking for ways to detect cancers earlier as much as possible, and there are always new technologies coming along and being tested.

Erin Spain [00:16:57] What is your opinion on some of this artificial intelligence that's being used to detect cancer earlier?

Kevin Hughes, M.D. [00:17:04] Artificial intelligence is a fascinating area. It's basically using the computer to do things that physicians are not able to do. I've done some work with MIT in this area, with Dr. Barzilai at that institution and the potential for the computer to pick up where the human mind leaves off is tremendous. Some of the work that she has done is to take mammography images and then to try to detect the risk of cancer by that image. Now, whether they're detecting increased risk or detecting a cancer before a human can see it. Either way, they're identifying patients who need more intensive screening earlier on. This is very preliminary. It's very promising. It should become part of routine medical care in the near future. It's not ready for that quite yet, but that's what's being done currently. And the thing with artificial intelligence is that it can constantly be made better as computers get more intelligent, have better chips, are more able to do bigger algorithms, harder algorithms. It'll keep getting better. Humans, on the other hand, have topped out. I'm not sure we're going to keep getting better. But the other thing that's valuable is that when we compare artificial intelligence to the best physicians in the world, the best radiologist in the world, the best radiologists, probably a little bit better currently. That may not be the case for very much longer. But when you take our artificial intelligence and put it in a smaller hospital or put it into a rural area or put it into an underserved country, it could potentially bring the level of care up tremendously. So, if we can get the computer to be as good as the best physician, that means that that level of care is available to anyone.

Erin Spain [00:18:39] You are new to MUSC Health. What brought you here and what are you the most excited about accomplishing in this new role?

Kevin Hughes, M.D. [00:18:46] Well, I came from Mass General Hospital from Harvard, which is a very good hospital. When I came down here, what attracted me was the people and the ability to do breast cancer care at the top of the game, working with very good people in this institution. But what really attracted me was the ability to really expand genetic testing to get genetic testing out to the population, to find as many mutation carriers as possible before they develop cancer. And the Helix project actually was a bonus that just happened to come along. At the time I was arriving and that gave us the ability to go out beyond just the cancer patients of the high-risk patients, but to all patients and identify all mutation carriers that exist. That doesn't happen in very many other places, and MUSC is really a pioneer in population level genetic testing, and I wanted to be part of that.

Erin Spain [00:19:36] Is there anything else you want to add?

Kevin Hughes, M.D. [00:19:38] I think that a lot of what's happened with genetic testing still harkens back to the days when it was scary, and it was expensive, and it was a problem and people were worried about doing it. I want people to understand that genetic testing is something that helps with your health. It's like any test that's scary. Getting a mammogram is scary. You might have a cancer. Getting a colonoscopy is scary, and we have to have a polyp removed. All these tests can be scary, but they're in your best interest. So, with genetic testing, I certainly recommend genetic testing for as many patients who need it, and I think we're moving to a point where everybody needs it. And so, I think that it's important to know that genetic testing has tremendous health benefits and health possibilities, not just the scariness that people will talk about.

Erin Spain [00:20:27] For more information on this podcast, check out advance.muschealth.org.