New radiation delivery method for brain tumors; assessing one's risk of cancer: Upstate Medical University's HealthLink on Air for Sunday, Nov. 28, 2021

[00:00:00] Host Amber Smith: Coming up next on Upstate's "HealthLink on Air," a neurosurgeon explains how a postage stamp- sized gamma tile is being used to treat brain tumors....

[00:00:15] Harish Babu, MD, PhD: "We place the radiation sources inside the brain at the site of surgery, so the radiation happens right the moment after surgery."

[00:00:26] Host Amber Smith: ...and a genetic counselor discusses how cancer risk is assessed and the genetic concerns with breast, ovarian, prostate, and pancreatic cancers....

[00:00:37] Jason Shandler: "You can inherit different genes and risks from both your mom and your dad's side.

[00:00:41] Jason Shandler: So knowing the cancer history on both sides is equally as important."

[00:00:46] Host Amber Smith: ...all that and a visit from The Healing Muse, coming up after the news.

[00:01:05] Host Amber Smith: This is Upstate Medical University's "HealthLink on Air," your chance to explore health science and medicine with the experts from Central New York's only academic medical center. I'm your host, Amber Smith. On this week's show, a genetic counselor talks about his role in assessing cancer risk and what you need to know about commercial DNA testing services. But first a neurosurgeon tells of the new way some brain tumors are treated with a device the size of a postage stamp.

[00:01:43] Host Amber Smith: From Upstate Medical University in Syracuse, New York, I'm Amber Smith. This is "HealthLink on Air." Neurosurgeons have a new way to target radiation therapy in patients with brain tumors, and here to talk about this new tool is Dr. Harish Babu, MD, PhD. He's co-director of the brain tumor program at Upstate and director of minimally invasive neurosurgery. Welcome back to "HealthLink on Air," Dr. Babu.

[00:02:08] Harish Babu, MD, PhD: Thank you. It's a pleasure to be on "HealthLink."

[00:02:11] Host Amber Smith: So tell us about this new tool called Gamma Tile.

[00:02:17] Harish Babu, MD, PhD: Gamma Tile is a surgically targeted that radiation therapy technology that has been recently approved by the FDA to be used for brain tumor patients. Usually brain tumors are treated with a combination of surgery and radiation. And, usually that radiation is an external beam. You sit in a radiation machine, and the radiation comes from the outside. This is the other way around. Here, we place the radiation sources inside the brain at the site of surgery. So the radiation happens right the moment after surgery.

[00:02:57] Harish Babu, MD, PhD: Now, these are stamp-sized, bioabsorbable collagen tiles that are embedded with small radiation sources, and they are designed to be implanted by neurosurgeon at the end of a tumor resection. Now these stamp-sized radiation sources are placed at the edge of the resection area where the need for the radiation is the most, because we think that's where most of the cancer cells are and where the boundary between the cancer and the normal brain is.

[00:03:31] Host Amber Smith: Let me just interrupt you. So it goes into the space that's left after you take the tumor out, and you said it's a stamp-sized tile. Is one tile all that you need?

[00:03:44] Harish Babu, MD, PhD: The number of tiles that we need may differ depending upon each patient's tumor, the surgery and the resection cavity, or the resection bed that is left after removal of the tumor. So this is decided on an individual basis for an individual patient. There is no standard number.

[00:04:06] Host Amber Smith: You described it as a bio resorbable, collagen tile. Does that mean it dissolves into the tissue or what happens to it once you leave it there?

[00:04:17] Harish Babu, MD, PhD: The collagen structure which holds these radiation sources are implanted, but eventually these collagen sources are absorbed by the brain tissue, usually within three, four months after implant. Now the tiles hold their shape and the position within the brain, while the radiation is being delivered. But after about three, four months, these collagen tiles are dissolved, and only this loose sort of small seeds of this radiation are left and, and the radiation has also decreased. And, those radiation seeds stay there, but the larger tile just dissolves.

[00:05:01] Host Amber Smith: When I looked for some pictures online, these little tiles had sort of bumps on one side of them, almost like a Lego tile. Why are they designed with bumps on one side?

[00:05:16] Harish Babu, MD, PhD: It is to some extent that is to let the surgeons know which side to place should go to the brain side and which side should be to sort of the cavity side. The bumpy side of the tile goes toward the brain side, and it is designed in such a way that the bumpy side would give the correct dose of radiation, the amount of radiation, so that, that helps us place those tiles during surgery appropriately.

[00:05:49] Host Amber Smith: I've heard of brachytherapy where radiation sources are placed in the tumor resection cavity during surgery. How is this different?

[00:05:58] Harish Babu, MD, PhD: Brachytherapies have been tried for a long time. In fact, I think the first ones were tried back in 1930s, 1940s, and several different sources of radiation have evolved over a period of time. And, at least about 20 years ago, 30 years ago, what was being tried was iodine 125. Now, in the past 20 years or so radiation scientists, physicists have seen that cesium 131 is, is a much better source for radiation. It gives about the same radiation, it is effective, but it has one advantage: that is, it is a shorter half-life. You get the same amount of radiation in a shorter time period and in a shorter distance. From a medicine point of view, that translates to, you get treated for a shorter period of time. There is improved ease of use, and it increases efficacy. It also has a superior safety profile. So in some sense, this is similar to the brachytherapy, but a lot more evolved and technologically better.

[00:07:12] Host Amber Smith: How does treatment using Gamma Tile compare with standard radiation treatment?

[00:07:20] Harish Babu, MD, PhD: These gamma tiles, these radiation sources, spit out radiation, and that affects the cancer cells. Now, when you place this gamma tiles, about 50% of the therapeutic dose is delivered within the first 10 days after surgery. Now in external beam radiation, everyday you would have to go to the the physician's office to get the radiation. And that happens over a period of days and weeks. Here, 50% of the dose is delivered within the first 10 days. In fact, about 95% of the dose is delivered within the six weeks, and you don't have to go to any physician's office. You are up and about, doing daily things. The radiation is happening inside your brain, and you're not going to any physician's office.

[00:08:17] Host Amber Smith: What are the side effects like, comparing Gamma Tile with the external beam radiation?

[00:08:24] Harish Babu, MD, PhD: So if we start off with the external beam radiation, the side effects are headaches, you have hair loss, nausea, vomiting, tiredness, and you also notice skin and scalp discoloration, and also there is also memory and cognitive problems. Now that doesn't mean that everybody gets this. It's a combination of things that people may get doing, external beam radiation.

[00:08:54] Harish Babu, MD, PhD: Now while in Gamma Tile, there is very little side effect. Sometimes the side effects are related to the radiation necrosis that happens very rarely, but generally it is much more tolerated than the conventional external beam radiation that is designed for classical brain tumors.

[00:09:19] Host Amber Smith: Do we know yet whether Gamma Tile will be more effective at preventing a tumor from growing back then traditional radiation?

[00:09:28] Harish Babu, MD, PhD: We do not know that yet. We don't have enough studies to suggest whether a Gamma Tile is better than the standard radiation therapy. Studies are ongoing. We don't have enough numbers to state that yet.

[00:09:45] Host Amber Smith: You're listening to Upstate's "HealthLink on Air." I'm your host, Amber Smith talking with neurosurgeon, Dr. Harish Babu about a new tool for brain tumors called Gamma Tile. So I want to ask you about what patients may be candidates for the Gamma Tile. Is this for adults, children?

[00:10:02] Harish Babu, MD, PhD: Currently it is FDA approved for adults, for recurrent brain tumors, such as glioblastomas, for metastatic disease and meningiomas, and it is also, since the beginning of 2020, also been approved for primary brain tumors. That is, first time diagnosed brain tumors, but only for adults.

[00:10:25] Host Amber Smith: Does it matter the size of the tumor or where it's located in the brain as to whether they would be a good candidate for this?

[00:10:32] Harish Babu, MD, PhD: As far as size or the location, it is not a concern. Any location or any size patients with tumors can get Gamma Tiles. The only thing is that they should be ready for surgery. Gamma Tiles are placed after surgery, so you need to be a surgical candidate for those tumors. And once at the end of the surgery is when we place these Gamma Tiles. But to answer your question, size and location of the tumor not a concern.

[00:11:07] Host Amber Smith: Is there anything that would disqualify a person from having Gamma Tile? I saw something about hypersensitivity to bovine derived materials.

[00:11:19] Harish Babu, MD, PhD: Because these collagen fibers are derived from bovine material, anybody who has previously had a sensitivity or hypersensitivity to bovine-derived material, they would not be candidates for Gamma Tile. And also if there are any patients who have barely shown to have increased necrosis from radiation, we may also need to counsel them appropriately. They may be sensitive to radiation, as well.

[00:11:50] Host Amber Smith: Now, if someone is going to need to have chemotherapy after the surgery and the Gamma Tile, can they do that with the Gamma Tiles in place?

[00:12:01] Harish Babu, MD, PhD: Certainly they can. Gamma Tile does not exclude any patients from getting chemotherapy. The chemotherapy can continue, just about the same way as they would be conventionally.

[00:12:16] Host Amber Smith: Now will someone who has gamma tile, are they going to be radioactive for a period of time? And can they be around their loved ones in the days after this?

[00:12:27] Harish Babu, MD, PhD: So once we place the gamma tiles, as I just alluded earlier, about 50% of the radiation does happen in the first 10 days, and about 95% of the radiation is in the first six weeks. So during this time, theoretically, there is radioactivity. But we know that the cesium source, the drop-off of the radiation is fairly quick, which means the distance where you feel the radiation is very short, within millimeters. So theoretically, yes one should be aware of this and their loved ones should be counseled that there is radiation within the brain of the patient. But after about six weeks, as I said, 95% of the radiation is gone. So, the first six weeks, one should be aware of this and be careful.

[00:13:24] Host Amber Smith: Well, I'd like to have you walk us through what a patient who's going to have this procedure can expect. So how do you tell someone to prepare in the days ahead of surgery? What do they need to do to get ready?

[00:13:37] Harish Babu, MD, PhD: So placing a Gamma Tile of the Gamma Tile procedure, per se, adds about two or three minutes, in addition to the routine surgery they might otherwise be signing up for. And for any neurosurgical procedure, we sit down with the patient, we talk to them, we counsel them. What are the goals of the surgery? What are we trying here? And what are the risks for surgery? And the risks for surgeries are long, but most importantly, having stroke or coma or serious neurological deficit. We talk to them, depending upon the location and the size of the tumor. And once we have had a discussion, the patient can choose to go with surgery or decide against surgery. And at that time we would, again, discuss what exactly the surgery looks like, where the incision would be, what times and how long will they be in the hospital. Typically after a procedure like this, they would be a night or two nights in the hospital. And, we would say that about the first five to six weeks, they would not have normal activity, just because they would be lethargic, they would be a little weak, just from getting the surgery. After that, they can go about doing their normal day-to-day activities.

[00:15:09] Host Amber Smith: So it sounds like inserting the Gamma Tile only adds, you said two or three minutes at the end of the procedure, and having these installed doesn't seem like it changes the course of recovery for most people. Is that right?

[00:15:24] Harish Babu, MD, PhD: Correct. Yeah. From a surgeon's standpoint, it's about two to three minutes extra for the surgery. And from patient's perspective, it shouldn't change anything more than the normal surgery as well. Obviously this sometimes may depend upon patient to patient, but most patients have done very well with Gamma Tile placement.

[00:15:44] Host Amber Smith: Will the remnants of the Gamma Tile show up on brain scans in the future that they have?

[00:15:49] Harish Babu, MD, PhD: As I said, the bioabsorbable collagen tiles are absorbed in three to four months, so they don't show up. But the seeds are these two- to three-millimeter size titanium beads, they will show up on the scan, even after the radiation sources have depleted and even after the collagen has been absorbed. So yes, those radiation seeds will show up on the MRI.

[00:16:21] Host Amber Smith: Now for listeners who want to learn more about Gamma Tile, how can they find out or get connected with you if this is something that interests them?

[00:16:30] Harish Babu, MD, PhD: The patients or referring positions who may be interested in Gamma Tile, they certainly can, can, you know, uh, sort of seek a referral at the department of neurosurgery.

[00:16:45] Harish Babu, MD, PhD: Uh, they can either send us a referral. Our office will be happy to contact them and channel them to the appropriate surgical field

[00:16:57] Host Amber Smith: I'll let listeners know that phone number for the neurosurgery department: 3 1 5- 4 6 4 -4 4 7 0. Thank you to Dr. Harish Babu. He's co-director of the brain tumor program at Upstate and director of minimally invasive neurosurgery, and we've been talking about the new Gamma Tile. I'm Amber Smith for Upstate's podcast and radio talk show "HealthLink on Air."

[00:17:26] Host Amber Smith: When might someone with cancer benefit from seeing a genetic counselor? Next on Upstate's "HealthLink on Air."

[00:17:47] Host Amber Smith: From Upstate Medical University in Syracuse, New York, I'm Amber Smith. This is "HealthLink on Air." Most cancers are not hereditary, but in cases where a patient or their doctor believes they may be at risk for a cancer that is inherited from family members, genetic counseling may be of use. Today I'm speaking with Jason Shandler. He's a genetic counselor at the Upstate Cancer Center. Welcome to "HealthLink on Air."

[00:18:11] Host Amber Smith: Thank you for having me, Amber. It's a pleasure to be here.

[00:18:14] Host Amber Smith: Well, I'd like to start by asking you to explain how you go about helping someone understand their cancer risk. What's involved?

[00:18:22] Jason Shandler: When we meet with patients, one of the most important things that we go over is both personal and family history. So of course it's important to know what type of cancer that person might be dealing with, what the pathology might be, when they were diagnosed, how old they were, what type of treatment they've had or plan to receive, and making sure we get notes from those doctors, whether they be at Upstate or elsewhere. But it's also important to make sure we understand the family history as well. It's just as critical as the personal history because you can inherit different genes and risks from both your mom and your dad's side. So knowing the cancer history on both sides is equally as important.

[00:18:57] Host Amber Smith: So do you need the patient to bring in, like, a family tree?

[00:19:01] Jason Shandler: Right. So one of the things that we do is actually draw a pedigree or a family tree. And we send out questionnaires to our patients before they meet with us so that they can fill out their family history and kind of label who is who in the family, whether they've had any health issues and what types of cancers they've had. It also gives them a chance to go home and research and ask their family members what's been going on in the family, because that's a lot of questions to have to answer on the fly if you don't know that you're going to be asked all of that. So it's good to give them a little warning of what.

[00:19:29] Host Amber Smith: And they need from both their mother's side and their father's side, right? Are they equally important?

[00:19:36] Jason Shandler: They are both equally important.

[00:19:37] Jason Shandler: You can just as well inherit any type of risk from both mom and dad, they might express themselves differently. If they're coming from your mom or your dad, given that there are different risks in men and women, but you can still inherit a breast cancer risk from your father. It might just not have presented in him.

[00:19:54] Host Amber Smith: So it seems like there's a lot of preparation before they even come to meet with you, some research and it might be sort of time-consuming, really, to put together.

[00:20:03] Jason Shandler: It's definitely time consuming, and that's one of the biggest benefits of having a questionnaire like that go out is that we can see what types of cancers are running in the family. And it gives us a chance to do some updated research if we need to look into what are the newest treatments for those types of cancers or maybe cancers that we didn't realize were linked might actually be. And check what new genes have come out in the past couple of years. Genetic testing has changed dramatically in the past 10 to 15 years. We used to only be able to test for a few genes, and now we're testing for upwards of 80.

[00:20:32] Host Amber Smith: Wow. Well, can you explain the difference between germline mutations and somatic mutations?

[00:20:39] Jason Shandler: Certainly. That is definitely a point of confusion for a lot of patients who receive genetic testing, in both forms. So somatic testing is typically testing that is done just on the tumor that you have itself. So maybe testing a piece of the breast cancer that was found, and that is going to be testing an acquired mutation, so a change that was found only in that breast cell. Now that often is done to guide treatment options. Maybe there's a specific treatment or drug that is out there that can be targeted to that mutation specifically -- kind of getting at that personalized medicine aspect that is becoming quite a hot topic. Now this is something that would have arose because of maybe an exposure or a mistake during replication of the genetic information, but is unlikely to be present in other tissues, such as egg or sperm, which is what we consider germline, something that can be passed on to the next generation. So it's often used for treatment mostly, but it can provide a clue as to whether this might be germline or not. We have to see with further testing is this mutation present in all of your cells or just in that tumor? And that's why often people get somantic testing of the tumor, and then they come to see us for germline testing.

[00:21:57] Host Amber Smith: So having it in a tumor doesn't necessarily mean that this is something you were born with, or that is in your family.

[00:22:04] Jason Shandler: Exactly. All cancer is genetic in the sense that it is due to mutations in the genes that cause the cells to go haywire and grow out of control. But those mutations in your genes can either be acquired during your lifetime. Or you could have been born with them from your mom or your dad. And in that case, you would also be arrested, pass them onto your future children. So it's important to make the distinction, whether something was acquired or inherited.

[00:22:30] Host Amber Smith: So germline mutations, do all mutations that a person is born with have some sort of cancer developing ability?

[00:22:40] Jason Shandler: Most of them do. And it just depends on what that overall risk is. Some of them are quite low risk, and we're learning a lot more about those as we do more research. The ones that are easy to identify are ones that we've found, things like the BRCA-1 and -2 genes, which I know we'll get more into. Those genes are much more well established, and those risks are very well-defined, but it also doesn't guarantee that you'll develop a cancer either. It's never a hundred percent risk. We always talk about kind of like a sliding scale of right. Everyone starts with some type of risk and we're moving that up or down depending on your genetics.

[00:23:12] Host Amber Smith: This is Upstate's "HealthLink on Air." I'm your host, Amber Smith talking with genetic counselor, Jason Shandler from the Upstate Cancer Center. Can genetic counseling help people who are adopted and do not know their family history?

[00:23:26] Jason Shandler: Yes. And it's often a surprise that a lot of adoptive patients don't even realize. We follow quite strictly the National Comprehensive Cancer Network guidelines for genetic testing, the NCCN, and one of their qualifications is actually being adopted. Because if you don't know anything about your family history, we don't want to hold that against you. There could be something that we just aren't privy to that information, and it's important to check.

[00:23:50] Host Amber Smith: So how do you work with a person who comes to you and doesn't have the pedigree or the family tree? Where do you start with determining whether the somatic mutation is actually a germline or not?

[00:24:05] Jason Shandler: It's really hard to determine whether it could be or not. That's often why they automatically qualify for testing because it's really a guesswork until we do, because there's no family history to go on to gauge whether we think this is. If they have a very large family with a lot of women, who've never had breast cancer, it's probably unlikely to be germline. But if they either have all men relatives who don't have any cancer or are adopted, where we don't have any history, we really don't know until we check. So it's really important for those patients to get that type of genetic testing, just so that they're aware.

[00:24:38] Host Amber Smith: Are there other sorts of answers a person may be able to get from genetic testing besides whether there's a germline?

[00:24:45] Jason Shandler: Yeah. So it can allow us to tweak someone's cancer screening. So if we know that someone has comes back positive, one, it provides an answer as to why this happened, which can be very satisfying for patients. Sometimes patients are almost glad that they have a change because it explains why this has happened. It gives them an understanding, and it doesn't feel random. It can guide treatment options as I've mentioned before, or screening for other organs. So you might've come to us for breast cancer, but if we find that you have an increased risk for colon cancer or pancreatic cancer, we can make sure that we're doing that type of screening as well, of course, focusing on treating you for your breast cancer, but once you've recovered from that, making sure we're still being aware of risk for other organs

[00:25:30] Host Amber Smith: Now, would the results of genetic testing for an individual apply to their biological children as well as themselves?

[00:25:37] Jason Shandler: Absolutely. So once somebody in the family has been found to carry a genetic mutation, all of their first degree relatives qualify for genetic testing. So siblings, and children and parents as well, all have a 50% risk to carry that change. Once somebody has been tested, and if they are negative, they in their future, children do not have that risk to carry that gene. Essentially, once you've been found to have only the correct copies, you can only pass on correct copies.

[00:26:06] Host Amber Smith: Is there an age cutoff, if a person discovers something, can their children be tested or do they have to become adults?

[00:26:14] Jason Shandler: Often we wait until they become adults somewhere in the 18 to 21 range, once they're able to make decisions. And is this something that they want to know? Not everybody wants to know if they have this type of cancer risks or what they want to do about it. So having the children grow up and have the opportunity to make those decisions for themselves. Autonomy is, of course, of utmost importance for us here in cancer. Sometimes there can be cancer genes that cause childhood cancers. And if that is the case, we would want to make sure that the children get screened at the appropriate time to make sure they start screening as children. But often these genes are considered adult onset. And in the rare case, do have childhood onset conditions that we will test for.

[00:26:55] Host Amber Smith: Is the testing done? Is it a blood test or saliva, or how does, how does it actually done?

[00:27:00] Jason Shandler: Yeah, one of the most common questions I get. Often it's blood test. When we're in the clinic physically we do have the option to do saliva testing as well, which has been a very good alternative for us during the pandemic, without having to have people come in for blood samples to the hospital, we can just send a kit to them in the mail. It comes in a little tube. They spit in the tube a couple of milliliters, and it gets sent back to the genetic testing company, and we get results in three to four weeks. So it's a pretty quick harmless procedure.

[00:27:28] Host Amber Smith: Well, let me ask you-- because there's some commercial DNA testing services like 23 and Me, and there are others -- do those work for people? Would they be able to provide the information someone needs?

[00:27:41] Jason Shandler: To a degree. The way I always try to explain it is that the information you can get from a company like 23 and Me related to cancer risk is that it's accurate, but not comprehensive. So it's quite limited in its scope. They are currently only approved by the FDA to test for the three most common mutations in the BRCA-1 and -2 genes. And to kind of illustrate how important or the lack of coverage that they have there is that if you think of a gene as a sentence, any letter in that sentence can be changed. The spelling could be altered at any point. Now, if I only check the three most common spelling mistakes in a sentence, I might miss a lot of the other spots in the sentence where you can have a spelling mistake. So that's a big difference between something that's commercial, like 23 and Me, checking for the most common versus a clinical test. When you come to us, we do full sequencing or checking of every single letter of the gene to make sure that we're not missing any of the spots. So, yes, the testing that they do on those three locations is good and it's not likely to change, but you could be missing a lot of other locations that would not be caught unless you did clinical testing. So it can be reassuring to patients and families to find out that they're negative on a 23and Me test, but we would want to go the extra mile beyond that, just to make sure that we're not missing something else.

[00:29:04] Host Amber Smith: Do you sometimes get patients who have done 23 and Me, and they're confused, or they got results that shocked them and they, you know, need help figuring out what to do with the information?

[00:29:16] Jason Shandler: Yeah. Because genetic testing has become so mainstream recently, a lot of patients are very familiar with 23 and Me. They're familiar with the saliva samples, or maybe they've done ancestry.com and they've got gotten ancestry information, and they ask, is it like this? And I say, the process is very similar, but we're going to be focusing on cancer genetics rather than ancestry or other conditions that you might find on 23 and Me. There's a lot of really cool, interesting things on there, but they might not be related to your health. So we do, it helps me provide a groundwork for them. They're familiar with the process to start with, and it gives me something to build off of.

[00:29:53] Host Amber Smith: When a genetic counselors involved -- forgetting about any of the commercial services -- but if someone is their doctor has advised them to come to someone like yourself, a genetic counselor, when that's going to happen, does the counseling happen before the test or after the test or both? Because you did mention something before about whether a person wants to know. So, how do you help that person? And at what stage in the process do you help them decide that?

[00:30:23] Jason Shandler: We certainly do both pre-test and post-test counseling. Pretest counseling is typically the longer portion it's often up to an hour. It gives me a chance to really meet with the patients, get to know them very well, what their intentions are, what are they hoping to glean from this information? Is it for treatment purposes? Is it mostly doing it for their kids or their grandkids is often a big motivating factor. So figuring out what drives my patients to get genetic testing or what are their hesitations can help me address why we want to get this testing and how it's going to help them specifically and personally. What is the benefit to them directly and allow me to all up to tweak my counseling to make sure that I'm addressing what they're concerned about and make sure that they're comfortable with the genetic testing. And if they aren't ready at this point, we can always revisit in the future. Unless somebody is actively trying to make a treatment decision such as a surgical decision or chemotherapy change, often we don't have to do testing right then and there. If somebody's coming to me for a family history of breast cancer, say, and they're 30, they've got some time to think about this conversation. Do I want to go home and talk it over with my husband, or talk to my mom first and see if she wants to get testing? There's often time for us kind of assess who's the best person and whether you're comfortable with getting this information, because finding that you carry a genetic change can really change your life. So it's important to consider all of the aspects before making a decision.

[00:31:52] Host Amber Smith: Do you ever have patients that stay with you and come for multiple appointments? If they do get a life-changing diagnosis from a genetic result, I'm thinking it might not be resolved with one visit.

[00:32:04] Jason Shandler: No. We never get just single snapshot for somebody. We always follow them consistently. If somebody has been found to have a positive mutation, we're going to initiate the process of referrals to all the specialists that they need to see based on the guidelines. And we want to follow with them every three months to six months to make sure that those referrals have been placed, what have they said? What has been found? Have other family members come in for testing that we can help with? And over time we do space that out to a year or two years as they get comfortable and get into a routine of their screening with their specialists. But we certainly want to keep up with them. Guidelines can also change. Recommendations change as we learn more and new evidence comes out. So a gene that was initially not recommended for prostate screening, says might end up being so in five years, even though it was first a breast cancer gene. So making sure we follow with people as recommendations and guidelines, changes essential to their care.

[00:32:58] Host Amber Smith: Upstate's "HealthLink on Air" will be back with more from genetic counselor, Jason Shandler after this short break.

[00:33:24] Host Amber Smith: Thank you for listening to Upstate's HealthLink on Air. I'm your host, Amber Smith, talking with Jason Shandler, a genetic counselor at the Upstate Cancer Center. Since the majority of cancers are not hereditary, which cancer patients are the ones who could benefit from genetic counseling or testing?

[00:33:43] Jason Shandler: When we think about red flags for genetic testing, the most important ones that come up are often age. So the young age of onset, breast cancer under the age of 45 or colon cancer under the age of 50, are often the biggest red flags that bring someone in for genetic counseling or because of a family member with that type of history. We can also see multiple cancers in one person. Maybe there's some underlying reasons why they developed cancer in multiple places, rather than something, as we mentioned acquired in one cell, maybe there was something present in all of your cells that led to these multiple cancers. Sometimes multiple cancers over multiple generations. So we see cancer in a grandparent and then in their parents' generation and now into your generation are potentially preventing that. So If we have three or more family members on one side of the family with a breast cancer or a related cancer, like ovarian cancer, that can qualify somebody for genetic testing because clearly there's something predisposing that family beyond the random chance that we typically think of.

[00:34:45] Host Amber Smith: Do health insurers typically pay for genetic testing?

[00:34:50] Jason Shandler: That is always a tricky question. And insurance is a very fluid situation as they learn and try to keep up with the current technology and the current recommendations. Sometimes insurance lives a couple of years behind, but we do see them starting to catch up with genetics. Ideally more genetic counselors might start to work with insurance companies and even help them form policies that can improve coverage for our patients. A good example of this would be a recent recommendation by the American Society of Breast Surgeons in 2019 that actually push for universal testing for all women with breast cancer, not just young age or multiple people in the family, because of that potential benefit of knowing that you have a genetic condition. And initially that was pretty slow on the uptake and not many insurance companies were recognizing that, but in the past year or two, we've had people who were initially denied in 2019, come back and actually get covered this time.

[00:35:47] Host Amber Smith: Can someone who's just worried about cancer, can they get testing provided that they're willing to pay on their own? Can they come for this testing or is it just not available unless there's a reason?

[00:35:58] Jason Shandler: It is certainly available. We can always try running it through insurance. Sometimes there's some reason of medical necessity that we can tell insurance that someone's mother passed away at a young age and is unavailable, or they're not in contact with their family, or they're adopted -- all of these other family situations that can't necessarily be accounted for in your typical guideline or insurance policy. We can try to work with insurance companies to get that covered. A lot of the genetic testing companies do offer a $250 self pay option. So patients can also weigh whether that information is worth that price. Of course, we don't want this to be a financial burden for anybody, so we always try to get it covered through insurance first. Sometimes it doesn't work out in the patient does have to decide whether the $250 is worth that information and that knowledge for them, which is, can be a very tough decision.

[00:36:48] Host Amber Smith: Now you mentioned earlier the BRCA gene and how it relates with breast cancer. So let's talk about specifically people with breast cancer, is BRCA the only genetic mutation that puts someone at increased risk for breast cancer?

[00:37:03] Jason Shandler: It's not the only one, but it is the most common and certainly the most well-known one. There are a lot of other risk factor genes, but we consider BRCA-1 and -2 to be the highest risk breast cancer genes. The risk for breast cancer can go up to 85%, which is very substantially increased over your average woman whose risk is about 12 and a half %. But there are moderate risk genes that fall more in the 20 to 50% range. So certainly still increased, and certainly warrants extra screening through mammograms and MRIs, but not necessarily as high as BRCA-1 and 2, so they don't get the same attention. But it's certainly worth testing those. And those are all included in our regular genetic testing that we offer to make sure that we're being thorough. We don't want to just test somebody for the most common genes when there are a lot of other things out there to test for

[00:37:55] Host Amber Smith: What does it mean to have a strong family history of breast cancer?

[00:38:00] Jason Shandler: So as I mentioned that three or more individuals on one side of the family would certainly qualify as a strong family history. Again, with the ages, if there's somebody with a breast cancer, 50 or under, and another individual with breast cancer that would qualify for genetic testing or a personal history under 45. We prefer to test people who have been affected first because they're most likely to carry one of these genes and be the most informative individual for their family. So rather than testing five daughters who haven't had cancers, we'd rather test the one mom who had cancer at 45, because if she's negative, we don't really need to test the daughters. Unless of course there's a history on the father's side that we would need to address, but we prefer to start with somebody who's affected, if possible.

[00:38:48] Host Amber Smith: Are the closer family members, the mothers, the sisters, the daughters, do they matter more than extended relatives when you're looking at an individual's risk?

[00:38:58] Jason Shandler: They certainly matter the most because they share that 50% of your genetic information with them. But moving out to second degree relatives is also important, so thinking about your aunts and your grandparents as well, can also be important. Once you move into great aunts and uncles or great great-grandparents, even your cousin sometimes can be a little bit more disconnected, cause there's a lot of people marrying into the family that aren't necessarily related to you. It can be good just to get an idea of which side's more at risk, but at that point you might want the cousin to get genetic testing first and then relay that information to you.

[00:39:33] Host Amber Smith: Now, do men need to be concerned if they have a family history of breast cancer in their female relatives?

[00:39:40] Jason Shandler: Yeah, it gets this reputation as a female cancer gene, because the biggest risks are for breast and ovarian cancer, but these genes can carry risks for prostate cancers as well. And it is important for men to know about that so they can make sure they're getting their screenings earlier if necessary, making sure that they're on top of them. Breast cancer can happen in men. It's simply just more rare because we have less breast tissue, but it can still happen. If a man does develop male breast cancer, they automatically qualify for genetic testing as well. And it doesn't rule out the fact that a man carrying the BRCA gene might not develop cancer himself because the risks are lower, but their daughters in the future might want to know if they carry it. So, a lot of the times, the men in the family, not always doing it for their own benefit, but more interested in if I have daughters in the future, what's their risk?

[00:40:31] Host Amber Smith: Well, what do you advise someone who carries a gene that's linked with breast cancer?

[00:40:37] Jason Shandler: We first go over all of the national comprehensive cancer network guidelines with them from the NCCN. And we want to initially start with enhanced breast cancer screening, assuming somebody hasn't had breast cancer yet. We would want to include mammograms and MRIs often starting younger than the general population would. So maybe starting in thirties or 40 or 10 years younger than the earliest onset breast cancer. So if somebody had breast cancer at 39, we would want to start at 29. And MRIs are not something that is typically done for the general population. They typically just get mammograms. So by adding that extra layer of screening in, we're able to look at the breast tissue more frequently and with a slightly different technique that allows us to catch something more efficiently than we might otherwise if we weren't doing that enhanced screening.

[00:41:28] Host Amber Smith: Is it true that the mutations, or some of the mutations that cause the breast cancer may also cause ovarian cancer?

[00:41:36] Jason Shandler: Yes, there's a great overlap between the breast and ovarian cancer genes. If you look at the panels of genes, the combination of all the genetic changes that are tested for on a panel, there is great overlap between the breast and ovarian cancers, obviously headlined by the BRCA-1 and -2 genes as well, but a lot of those moderate risk genes do overlap. And it does provide an opportunity to talk about potential surgical removal of the ovaries if necessary.

[00:42:03] Host Amber Smith: So if a woman has one of these genetic mutations and has her ovaries removed, does that remove the threat of cancer or ovarian cancer, or might another cancer appear somewhere else?

[00:42:16] Jason Shandler: Another cancer could appear somewhere else, and it could still result in ovarian cancer. We can't guarantee that every single ovarian cell is removed. The same with, when we talk about mastectomies for women, they can't guarantee that every single breast cell was removed either. There are also leftover ovarian cells in the peritoneal wall, the lining of the abdomen that essentially is leftover from when the ovaries were migrating to their position. And as an embryo, there are some leftover cells in the abdominal wall that are ovarian in nature and can still develop into a cancer. So it's the greatest reduction in risk that we know about simply because we don't have great screening for ovarian cancer. We don't have a mammogram for your ovaries. There's no gold standard. So the best recommendations are when to take them out, which is typically 40 to 45, depending on the gene, or when you're done having kids. We do also have to weigh that with the benefits of keeping the ovaries in place too, because they can provide a benefit to your bone and cardiac health too.

[00:43:20] Host Amber Smith: You're listening to Upstate's "HealthLink on Air."

[00:43:22] Host Amber Smith: This is your host, Amber Smith talking with the Upstate Cancer Center's Jason Shandler, who's a genetic counselor. Let's talk about pancreatic cancer. Who's at highest risk for developing pancreatic cancer?

[00:43:35] Jason Shandler: Often the highest risk factors for pancreatic cancer are non-genetic factors-- smoking, drinking. Those are your greatest risks. If you carry a genetic mutation, that's kind of like a double whammy, right? If you already have this high risk, and then you expose yourself or make poor life decisions, that can put you at an even higher risk. So genes like BRCA-1 and 2, or some of these moderate risks in genes or Lynch syndrome, which is more commonly associated with colon cancers can also put you at an increased risk for pancreatic cancer. And there has been a push for universal testing in pancreatic cancer as well, just like there was for breast cancer, because of the benefit of adding chemotherapy treatments.

[00:44:18] Host Amber Smith: So you mentioned we have mammograms for breast cancer and colonoscopies for colon cancers. How close are we to having a way to screen for pancreatic cancer?

[00:44:29] Jason Shandler: Unfortunately, we still don't have something right on the horizon for pancreatic screening. As you kind of alluded to, pancreatic cancer is notoriously hard to detect and treat. And because of that, we rely heavily on family history to direct our screening protocols. Typically, if there's a family history of pancreatic cancer, we start with an annual abdominal MRI, which alternates with an endoscopic ultrasound starting at about age 50. That's typically when we see that risk start to increase. Under 50, there's not as great of benefit. And sometimes if there's no pancreatic cancer in the family, it might not even be done because it's so hard and so time consuming and difficult to do endoscopies and all of these MRIs, if there's really very little benefit that we know of.

[00:45:12] Host Amber Smith: But there is some, it sounds like, testing in special circumstances, if someone learns that their family has a syndrome that greatly increases, there is some precautionary stuff that they can do?

[00:45:23] Jason Shandler: Yeah. There is some precautionary stuff we can do. It's not as efficient or necessarily quite the gold standard that mammograms are, but it is the best that we can get at this point. Again, it's a good reason why we continue to follow up families even after they've tested positive. Maybe they learn of a pancreatic cancer that develops in the family members after we started meeting with them, we can always add that screening in once they know about it, or again, we might in the future have a really good pancreatic screen that we can add in for these patients at some point.

[00:45:52] Host Amber Smith: Well for prostate cancer, how would a man know that he's at risk for an inherited prostate cancer?

[00:46:00] Jason Shandler: Again, family history is typically our best bet, so looking at a strong family history of your father, brothers or your sons, or your grandparents, even again, first and second degree relatives. And you might honestly see the greatest risks coming from a family history of breast cancer. Again, a lot of these genes overlap with breast cancer genes in a man might not even think he's at risk for prostate cancer, because while everyone else has breast cancer. But a lot of these genes can also increase your risk for prostate cancers. And we would want to make sure that that man is followed, even if it's just a breast cancer family history. It can manifest differently in the men.

[00:46:37] Host Amber Smith: Is hereditary prostate cancer more aggressive than non inherited forms?

[00:46:42] Jason Shandler: Typically. Yes. And it's actually a better indication of whether something might be hereditary than age. So when we think about breast cancer, we're often looking at those really young ages as being concerned, thirties and forties. But with prostate cancer, we're more concerned about the aggressiveness of the cancer. Something that's typically done for a lot of prostate cancers is a Gleason score, which ranges up to the score of 10. The lower numbers are considered lower risk, something under six. Seven, and higher is where you get into intermediate or high-risk. And it's that seven and over that we would be more concerned about genetic testing.

[00:47:17] Host Amber Smith: So to summarize, if someone finds out that they're carrying a gene that causes a particular cancer, it doesn't necessarily mean they're going to get that cancer. It's just something to be aware of, right?

[00:47:29] Jason Shandler: Correct. Again, it's never a 100 % guarantee when we talk about these increased risks. Think about a slider. Everyone starts with some percentage of risk, simply because any cell can become cancerous. And there's often not much you can do about that risk other than trying to take care of yourself, limit exposures, but we can then alter that slider based on your genetics. We might move it up, and we might move it down. Maybe you have a couple of protective factors in your body that we can actually lower that risk. But it never goes 100% or 0% either. It's always somewhere in between, which I think is important to stress to my patients. They hear that I tested positive for something. And their first thoughtis I have cancer already. And that's not the case.

[00:48:11] Host Amber Smith: So is this something to discuss with a primary care provider or do you think that most primary care providers would refer a patient to someone like yourself at genetic counselor?

[00:48:22] Jason Shandler: I definitely encourage people to talk to their primary care providers about genetic testing. They're often well enough trained to identify, yes, this is a strong family history of cancer. They should see a genetic counselor or geneticist for more thorough testing. Most genetic testing is not done in a primary care office, at this point. That could change in the future as a genetic testing becomes more available and cheaper to do. But most of the genetic testing at this point is done in our offices, or maybe at a local gynecologist might do it as well.

[00:48:53] Host Amber Smith: How would a person make an appointment with one of the genetic counselors at Upstate?

[00:48:58] Jason Shandler: If you asked your primary care or your gynecologist to make a referral to the Upstate Cancer Center genetics program, that would be the best way so we can make sure we get copies of all of your office notes and pathology and records, to make sure we get all of those. Currently our team consists of two genetic counselors, bonnie Bradick and myself, and two physicians, Dr. Rinki Agarwal, MD, and Dr. Gloria Morris, MD, and our nurse coordinator.

[00:49:24] Host Amber Smith: Well,thank you for this educational conversation. My guest has been genetic counselor, Jason Shandler from the Upstate Cancer Center. I'm Amber Smith for Upstate's podcast and radio talk show "HealthLink on Air."

[00:49:46] Host Amber Smith: And now, Deirdre Neilen, editor of Upstate Medical University's literary and visual arts journal, The Healing Muse, with this week's selection.

[00:49:56] Deirdre Neilen, PhD: Joan Baranow, PhD, teaches in the MFA creative writing program at Dominican University in California. Her poetry has appeared in JAMA, the Journal of the American Medical Association, and also in the Paris Review. The poem she sent us, "Catch and Release," offers a new perspective on the process leading to a breast biopsy.

[00:50:15] Deirdre Neilen, PhD: "Catch and release"

[00:50:17] Deirdre Neilen, PhD: You're allowed to breathe in intervals.

[00:50:20] Deirdre Neilen, PhD: Women you'll never see again

[00:50:21] Deirdre Neilen, PhD: take an interest in your breast.

[00:50:24] Deirdre Neilen, PhD: They have careful hands. They understand

[00:50:27] Deirdre Neilen, PhD: where to aim the dart.

[00:50:29] Deirdre Neilen, PhD: The dart snags red minnows of tissue.

[00:50:32] Deirdre Neilen, PhD: They hook your tumor,

[00:50:34] Deirdre Neilen, PhD: string through a hole

[00:50:35] Deirdre Neilen, PhD: punched in a paper cup.

[00:50:37] Deirdre Neilen, PhD: The surgeon a fisher of women,

[00:50:39] Deirdre Neilen, PhD: yourself a river

[00:50:41] Deirdre Neilen, PhD: invaded by unlikely species --

[00:50:43] Deirdre Neilen, PhD: Asian carp below the Ohio

[00:50:46] Deirdre Neilen, PhD: shoving aside the benign bass.

[00:50:49] Deirdre Neilen, PhD: She traces her line,

[00:50:51] Deirdre Neilen, PhD: splits the surface, scoops

[00:50:53] Deirdre Neilen, PhD: with a sharp net.

[00:50:55] Deirdre Neilen, PhD: You lie stilled in your flow, caught briefly,

[00:50:59] Deirdre Neilen, PhD: before you're sewn up, and let go.

[00:51:20] Host Amber Smith: This has been Upstate's "HealthLink on Air," brought to you each week by Upstate Medical University in Syracuse, New York. Next week on "HealthLink on Air": an overview of bariatric surgery options. To hear more consumer health podcasts, visit our website at healthlinkonair.org. Or, do a podcast search for the phrase "HealthLink on Air."

[00:51:42] Host Amber Smith: Upstate's "HealthLink on Air" is produced by Jim Howe, with sound engineering by Stephen Shaw. This is your host, Amber Smith, thanking you for listening.