“Cancer Genetics” – with Dr. Tamar Goldwaser
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Dr. Fox: Welcome to today’s episode of “Healthful Woman,” a podcast designed to explore topics and women’s health at all stages of life. I’m your host, Dr. Nathan Fox, an OB-GYN and maternal fetal medicine specialist practicing in New York City. In “Healthful Woman,” I speak with leaders in the field to help you learn more about women’s health, pregnancy, and wellness. All right, Tamara, welcome back to “Healthful Woman.” How are you doing?
Tamara: I’m good, thanks. How are you?
Dr. Fox: I’m great. We have you and you’re not at home in a closet hiding from your children. So this is good as you were last time. Yeah. So we’re not face to face, but you’re on a proper landline. And we hear you clearly and you’re not talking in fear of being discovered. So that is nice. When you were on last time, we had several podcasts and they were mostly related to genetics in general, and a lot of prenatal genetics, meaning, you know, genetics related to pregnancy. And we’re gonna focus today on cancer genetics, which is a totally different angle for genetics. And I’m really happy that you’re here and able to talk about this because it’s a important topic. And why is it so important nowadays?
Tamara: I think it’s a very important topic. And it actually is essential to the field of women’s health and preventative health. And it comes into play whenever we take care of our patients, whether they’re pregnant or not pregnant, because people have…they come from families, they have family history, and we, as OB-GYNs, wanna take care of patients also when they’re not pregnant and as they move into different stages of their lives. And so something that’s always on people’s mind is, “Well, hey, I have a family history of cancer, when am I gonna get to address this with my doctor?” Or, “When do I have to think about this?” And so I think it’s important that we provide that access to our patients in routine OB-GYN care. It comes into play, it helps people decide, “How am I gonna live my life? How am I gonna make certain decisions? Which kind of doctors do I need to see? Can I wait to have children? Or do I need to have children in a very specific way?” So even if you’re not at risk to develop cancer in your 20s, maybe knowing that you’re at a higher risk to develop cancer later on in your life, it could actually influence certain reproductive choices that you make when you’re much younger.
Dr. Fox: Yeah, I think that, you know, a long time ago, people didn’t talk about cancer. Number one, just in general, people were much more quiet about their medical conditions or their family histories, you know, for better or worse. And also, the treatments were less helpful, let’s say, they just weren’t as effective. And I think nowadays, there’s so much more talk about cancer information about it. We’re, you know, recognizing it, and there’s more treatments, and there’s more research. And there’s just a lot of discussion. And like you said, people are scared, and especially if they see they have a family history of something, whether it’s breast cancer, ovary cancer, colon cancer, whatever it is, and they wanna know. You know, everyone knows that there’s this link in family history, that if you have a family history of certain cancers, you’re more likely to get it. But what exactly does that mean? How likely are the ways to figure it out? What do I do? And people think about this a lot. And the field of cancer genetics has really exploded in the past, I don’t know, 10 years, I would say. Does that sound right to you?
Dr. Fox: Yeah. So…
Tamara: Yeah, definitely.
Dr. Fox: And so now, there’s so much more ability to test and get knowledge about this and try to clarify someone’s risk. And I think that’s great. But as we’re gonna discuss, it has to be done in a thoughtful way so that people get the information they want and they don’t get information that they don’t want, that’s just gonna terrify them, potentially.
Tamara: Yeah, definitely. One thing I wanna add is that something that’s a modern phenomenon is that women sometimes, because of certain career choices, or because of lifestyle, people are considering pushing off childbearing. And so you do see that trend of having children older and older. And so sometimes having certain knowledge can actually change one’s plans when building a family if they know that there’s something specific in their family. And yes, there’s a lot to do in terms of prevention. Having that prior knowledge, when you’re younger, will actually give you access to things that can help you, either dramatically reduce your risk for developing cancer later on, but also help you potentially detect the cancer at a very early stage, which would give you a very different prognosis and outlook, life expectancy, versus if you detect the cancer when it develops much later.
Dr. Fox: Right. And so for all these reasons, I think we should, you know, dive into exactly what cancer genetics is. So what does it mean like cancer genetics, when someone inherits a risk of cancer? Starting from the basics, how would you explain that to somebody?
Tamara: What I explain is that when you have a hereditary predisposition or a “cancer gene,” as people would call it, and I’m putting that in quotes, because these genes that we’ll talk about are present in all humans. So we all have a BRCA gene, and we all have a BRCA1 and we all have a BRCA2 gene. But there’s a whole family of genes that all humans have that are called tumor suppressors. And in different ways, they’re all active every day in every cell, detecting things that might become cancer and stopping them in its tracks. And so, all the time every day, we have tumor-suppressor genes doing their job preventing cancer.
And when a family has, let’s say, a BRCA mutation or has a certain predisposition towards cancer, it’s because one of these important tumor suppressor genes has a mutation and that mutation is a change in the gene that renders it non-functional, so it’s not doing its job. Now, when you inherit a mutation in a tumor suppressor gene, that mutation is there in every cell of your body, but it doesn’t mean that you have cancer in every cell of your body and it doesn’t mean you have cancer at all. It just means that maybe one of your body’s protections against cancer is not working. As you go through life, if something should arise, it makes it just that one step closer to developing cancer than if you hadn’t had that mutation.
Dr. Fox: Right. So basically, having a mutation of one of these genes does not mean you will get cancer, it just increases your odds of getting cancer compared to someone without that mutation.
Tamara: Right. It’s like if you have a big castle with a lot of doors, and there’s supposed to be a bodyguard at every door. And if one bodyguard is asleep, that means you’re just a little bit more likely to get an intruder. So it’s really…it’s not…when you inherit a cancer, genetic mutation or mutation in a cancer protecting gene, you’re just a little bit more likely, or sometimes a lot more likely to develop certain cancers in your life. But it doesn’t mean that you have cancer or that you definitely will develop it.
Dr. Fox: Right. So having the mutation in one of those genes, so one way to get it, is you inherited from one of your parents, correct?
Dr. Fox: Is there a way for someone to get one of these mutations not inherited from one of their parents, like a new mutation?
Tamara: Yeah, definitely. So that’s very important to distinguish. So if you think about it, and you look down at cancer in general, all cancer is caused by genetic mutations. Some of them are inherited from your parents, and some of them are new that just happened in one cell in your body or in one organ in your body, some point in your lifetime. So when we talk about cancer genetics, there’s this old theory of the two-hit hypothesis. So you can go through life and all your tumor suppressor genes, all your protections are there and working. But then as you go through life, if you let, they get exposed to too much UV radiation from the sun, or exposure to smoke, or environmental toxins, or free radicals of some sort, it can cause a mutation in one of these genes. And still, you have the other one that’s working from, let’s say, another parent, and then you go through life a little bit longer and another mutation happens due to some other environmental exposure. And now all of a sudden, you have two hits, and now that cell or those cells in that certain organ are no longer protected, and now cancer can grow.
So you really need two hits in order for the cancer to grow. When you inherit the mutation, you already have that first hit in every cell of your body. And so if you just wait long enough and get exposed to enough toxins or other things that cause mutations, as you live your life, you just can develop cancers, more likely, sooner or, you know, more likely, in general, in your lifetime.
Dr. Fox: You know, for each gene, we have a copy from each parent. So if we inherit two normal genes, then each of them would have to become, as we call it, hit in order to render non-functional. But if you inherit one normal, one abnormal, you’ve only got one good one and the other ones already…it’s like you’re born with a hit.
Tamara: You’re born with a hit, yeah.
Dr. Fox: Yeah. And I think that’s also, just for people who, you know, are not brushing up on their high school biology every day, it’s important to remember that, you know, we inherit potentially mutations from our parents, those are inherited in the genes. But the reason cells can have mutations, even after you’re born, is because, remember, every cell in our body, they’re dividing themselves, because you know, cells die and they divide. And during that division process, after we’re born within our own cells, new mutations can happen, again, either from a toxin or radiation or just from luck, you know, whatever it is, there are these mutations that can happen. So when someone has a mutation, sometimes it’s something they inherited from a parent. And sometimes it’s something they didn’t inherit from a parent. And that would be important, for example, in the rest of the family. If I got a mutation from a parent, then my siblings are also at risk of getting that mutation. Whereas if the mutation’s new that just happened to me, my siblings really would not be at increased risk, because I didn’t get it from my parents.
Tamara: Yeah, and this can become confusing because when you talk to family members or friends, and if someone has cancer, they may say they found a mutation. And they might be talking about a mutation that was found in the cancer cells or the tumor that was removed from the person’s body or they could be talking about a mutation that they found in what we call the germline, which is like a test that would be done, let’s say, on your blood or on your saliva kit, the germline mutations are what we talk about as being inherited and passed on from generation to generation. But what I was referring to when I said we are born with the first hit in every cell of your body. But if they’re testing your cancer, and they’re testing your tumor, and they look for mutations there, those are what we call somatic mutations. Those are mutations that just happen as life goes on, and just by chance, or by, you know, exposure to certain environmental factors. And those that you’re not born with, and those your family members are not likely to have as well.
If, let’s say, someone has their tumor size, and they look at the tumor, and they say, “Oh, these are the mutations that are driving this cancer,” that same person, if they would go to go and have a blood test and say, “Do I carry a BRCA mutation?” for example, they may find no inherited mutations, but none of those big mutations from the tumor would be found in the person’s bloodline. So there’s a difference. And it definitely is confusing when you’re sharing this discussion at home among family and friends, trying to figure out who is at risk for what. So it’s important to differentiate, was it a germline mutation, meaning something that was inherited and is present in all parts of my body? Or is it something that is a somatic mutation, something new that happened in one part of my body that then led to cancer?
Dr. Fox: Right. And so how many of these, in terms of the inherited ones, the germline ones that you refer to, how many of these are there that we know of?
Tamara: Oh, there’s so many. I mean, there are…
Dr. Fox: I mean, is it tens, hundreds, thousands?
Tamara: When we talk about what doctors today know enough about in order to provide some sound counseling about, we’re talking, you know, in the tens, you know, maybe 30, 40, 50 of these known tumor suppressor genes. And the more common ones, I say, could boil down to maybe 10 to 20 tumor suppressor genes that are found in certain families passed on from generation to generation.
Dr. Fox: And do we think it’s 10 to 20, and it’s really 10 to 20? Or do we think it’s 10 to 20, because we just haven’t discovered the rest of them yet?
Tamara: I think we’re at the tip of the iceberg in terms of understanding hereditary risk for cancer. So I definitely think there’s more to it. But there are some genes, like BRCA1 and 2, that are very important. And when you look at a pathway, how these tumor suppressor genes all work, a lot of them all work with a final common pathway that leads to the BRCA1 and BRCA2 gene. So some are really critical and very important, and some are important but don’t have as much of a great effect if there’s a mutation. So we differentiate these genes by saying highly penetrant versus low penetrant. So BRCA is highly penetrant, meaning when you inherit a mutation of BRCA 1 or 2, there’s a very good chance that you eventually will manifest something, meaning will develop some sort of cancer. Whereas some of the other tumor suppressor genes that you could get tested for are lower penetrance, meaning if you inherited, there’s a much lower likelihood that you will manifest. It still could be greater than the general population, so you still have an increased risk for cancer, but you don’t see the effect as great as in a BRCA1 or 2 mutation.
Dr. Fox: And what would you say in terms of all the people who are diagnosed with cancer? What percent of them are found to have one of these inherited tumor suppressor genes, mutations currently? Is it like 10% to 20%, or like 100%? Or what does it come down to?
Tamara: Yeah, and it’s kind of frustrating because I think it’s got to be more, but the common understanding is it’s about 10%, 10% of breast and ovarian cancer cases are due to an inherited predisposition to cancer that we can identify, you know, by doing the tests that are available today. So, you know, whatever is available today is gonna change next year. And it’ll just keep on changing as we learn more and more about our genetics and how our genes interact and how they contribute to the pathway of cancer. But it’s about 5% to 10%, depending on which cancer type.
Dr. Fox: And is it different, for example, if someone has a strong family history of cancer, and they get cancer? I presume the likelihood of finding a gene is much higher than if someone has no family history of cancer, and they develop cancer. It just makes sense, right?
Tamara: Yeah, yeah, definitely. You know, just coming in with a strong family history will increase your pretest probability of finding something, but many times we’re very surprised. Oftentimes, we’re talking about cancers that affect women, so breast cancer, ovarian cancer, uterine cancer. But these genes are carried by both men and women, and you could inherit a mutation from your father just as much as you could inherit it from your mother. So sometimes these family histories don’t tell the full story because if a man carries a BRCA mutation and he’s at high risk to develop breast and ovarian cancer, he’s not gonna have that because he doesn’t have those organs. So you might have several generations of man passing on to his son testing onto his son, and then only when the genetic mutation is passed on to a female do you finally see that there’s a higher risk of cancer. So, usually, a family history already sets you up to know, “Okay, I should be more concerned.” But there are a lot of surprises.
Dr. Fox: It’s interesting. I mean, men can get breast cancer, it’s less likely, obviously, they can develop it. It’s interesting, though, because you know, ovary cancer, you know, there is that connection with the peritoneum. But you don’t tend to see men getting peritoneal cancer in the same way that women would. There’s definitely a lot to learn about that. That’s a really interesting point about it being carried by someone who might not have the organs that get the cancer. So they’re just keeping the gene. For example, if there was a gene that increased the risk of prostate cancer, that could pass through women without them knowing it, obviously, or manifesting anything because they don’t have a prostate.
Tamara: Right. Certain genes do carry risks, not only for breast and ovarian, but they do also carry increased risk for other cancers that can show up in men, breast cancer included. But even a man who has a BRCA2 mutation and we know he has an increased risk for breast cancer, it’s nowhere near the risk that a woman would have if she had that same mutation. So it’s just increased above the general population with because we almost never see breast cancer in men, aside from really specific cases.
Dr. Fox: Right. And what are some of the common ones? So you mentioned the BRCA mutation. A lot of people have heard of that. It’s related for breast cancer. That’s where the BR for, you know, the BRCA comes from, but it’s also, you know, ovary cancer. What are some of the more commonly known mutations or some of the highly penetrant ones that people may have heard of, or maybe should know about?
Tamara: I’ll flash out BRCA, just for one more minute, because it gets the most airtime, but BRCA2, for instance, increases your family’s risk to develop prostate cancer and even pancreatic cancer and melanoma. Because these genes are carried by both men and women, you can see families with a lot of men with cancer, let’s say, of the pancreas or melanoma or prostate cancer. And then moving away from BRCA1 and 2, there’s something called Lynch syndrome, which can be caused by mutations in a whole different group of genes that are called mismatch repair genes. And if you have a mutation in one of those genes, then family members can be at increased risk to develop colon cancer, uterine cancer, ovarian cancer, and then a lot of other more rare cancers as well.
And so Lynch syndrome is one of the other, I would say, heavy hitters that is found in families. And then there are the lower penetrance genes, like CHEK2 mutation and ATM, these are genes that can increase a woman’s risk for breast cancer, but also can increase other risks for other types of cancers. But again, not to the degree as BRCA or Lynch for breast or ovarian cancer.
Dr. Fox: How would someone know if they’re carrying one of these? What kind of testing is done to determine if someone has one of these or not?
Tamara: That’s a great question. So basically, you can have your blood or your saliva tested to see, specifically to have the lab look at these genes in question, these genes that are known to protect us from cancer. And the way it all starts is with genetic counseling or gonna see someone who is skilled in genetics and how genetics plays into your risk for cancer. So actually, it really would start with your primary care OB-GYN doctor. So you know…
Dr. Fox: It’s a blood test or a saliva test. I mean, it’s not complicated.
Tamara: It’s a blood test, yeah, or a spit kit.
Dr. Fox: You send it to the lab and, you know, the lab will tell you, you know, based on who’s ordering it, what are we testing for? Are we testing for one specific mutation? Are we testing for these 4, these 5, these 20? Whatever it is, and the lab just gives you results. And the results are considered highly accurate, correct?
Tamara: Yeah, definitely.
Dr. Fox: Yeah. I mean, because they’re really looking at the gene, they’re looking for a specific mutation. And so they’ll tell you, yes or no, you have it or you don’t. Now, that’s the upside. The downside is they’re only looking at the mutations that they’re testing for, meaning you can’t send a blood test to a lab and say, “Do I have an increased risk of cancer?” Right? And they give you a percent. They tell you, you do or don’t have these particular mutations. So sometimes people don’t understand exactly what’s happening. If you have a very strong family history of cancer, you can check for certain genes. And if you don’t have them, okay, but it doesn’t mean you have no risk of cancer, it just means those genes aren’t present.
Tamara: Right. It’s we’re limited by what we know today, right? So we can only look for what we know to look for. So let’s say there’s a family that everyone’s got cancer, and you’re sure you’re gonna find something and you do a test that looks for all these genes and it all comes back normal, I’m gonna say to you, “Look, there’s something there. Obviously, there’s something putting your family at risk. We just couldn’t find it. We’re limited by…you know, we couldn’t find it.” Maybe the gene is gonna be discovered in the future or maybe the technology we have today couldn’t identify it, but we’re still putting…we’re gonna keep you in the high-risk category.
Dr. Fox: Right. Or also like if the person, let’s say someone’s mother has breast cancer, and the mother undergoes testing and they find no mutations in her, right, then for her daughters, what would they even test for? Right? Because if one of them has a BRCA mutation, yes, it does put her at increased risk, but probably not the same thing to put her mother at risk, because her mother doesn’t have that mutation. So there is a…which is why we’re gonna get to that need for counseling before and after to sort of sort this out, because there’s a lot of information that has to be taken into account when undergoing this kind of testing. So the first thing is, let’s just start a meeting, who should get this type of testing? Should it be… And maybe three options: everybody, nobody, or somewhere in the middle?
Tamara: Oh, man, I would say probably it’s somewhere… It’s definitely not nobody, I’m crossing out nobody. And I mean, I like knowledge and I like information. So I’m gonna be more towards everybody. But the recommendation would be for certain people who are identified as at being at risk, right?
Dr. Fox: Who would those people be?
Tamara: When you go to the doctor, or when you talk to your family, or when you think back at your family history, the things that should raise a red flag would be, let’s say, there’s someone in the family who’s had cancer multiple times. So they had breast cancer, and then they had skin cancer, and then they had thyroid cancer, and then they had, you know, something else. So one person with multiple cancers is a red flag. Another red flag would be if a whole bunch of people who are all related to each other, meaning like all on the same side of the family, who all have cancers that are either of the same organ, like all breast cancer, or all uterus cancer, or maybe not the same organ, but are grouped together, like breast and ovarian or colon and uterine that go together, that’s another high risk, like raising a red flag.
When you see cancers in multiple generations in a family, so it’s the grandparents had it, the parents had it, children had it. So when you see multiple generations being affected, that’s something that is worrisome. A man with breast cancer is always gonna raise a red flag and families with a man who has breast cancer should have an evaluation. And even one patient themselves who’ve had bilateral cancer, meaning if they had cancer on both sides of the body, or in the organs of the right and left, those things raise a red flag.
And then when you have rare tumor types, and that you might not know on your own, but if a doctor looks at your results when the tumor was resected, and they look at the pathology report and say, “Wow, these cells are… I’ve never even heard of such a thing, or I never knew you could have adrenal cell cancer or cord plexus cancer,” then they might look into it and say, “This is rare, this is something that we should look further into.
Dr. Fox: Right. And people don’t always know, obviously, to these types of cancers grouped together, as is rare, as it’s not rare. So for people of any family history of cancer, it probably warrants some formal evaluation of the family history. Again, I will talk about it logistically is that done by your primary doctors or done by a genetic counselor who does that, but someone should take, you know, some sort of story of your family to be able to pick up and say, “Hey, yeah, actually, the fact that your mother had this and your aunt had something else, those two actually are related cancer types and you should be tested.” Because not everyone’s gonna know these things, obviously. And I’m just curious because I hear that you’re gonna lean towards the side of testing more commonly, or having a more, you know, liberal use of the testing, what would be… I’m gonna have you play devil’s advocate, what would be the potential downside of testing? Meaning why would someone…why would an organization or a doctor or somebody say, “You know what, I think we shouldn’t test everyone, or we shouldn’t test you”? Is it an issue of cost? Or is an issue of availability? Or is it an issue of we don’t know what to do with the results? Like, what is the reason you wouldn’t wanna test somebody, potentially?
Tamara: Okay, so on a big scale level, you wouldn’t wanna recommend it to everybody, we don’t wanna recommend it too liberally because the tests can be expensive, the tests can be anxiety-provoking. And when you test the general population, your yield is gonna be low, because, again, it’s only got 5% to 10% of the population that are gonna have these inherited predisposition. But then on a…
Dr. Fox: Is it 5% to 10% of the entire population, or 5% to 10% of people with cancer?
Tamara: People with cancer, right? So incidence in the population, yeah, even lower, like much lower. So then that’s just setting into place a system that’s probably, like, not so fruitful and not such a good use of our resources. But then on an individual level, having these tests can cause a lot of anxiety and can cause a lot of distress. And people may not be prepared to learn something like this. It’s a once in a lifetime test. And so once you test like this, and you learn that you have this mutation, that you inherited it from your parents, you can’t unlearn it. And it sort of stays there as something present in your mind and it can affect a lot of aspects of your life.
So I think a person has to be really prepared to do a test like this and to learn because it could have implications where all of a sudden, you take someone who feels fine, who’s healthy, who didn’t fear, develop enough cancer, and now they have this option of having a mastectomy hanging over their head, and it’s very stressful, you know, they’re not even married, and they’re dating, and they wanna just feel young and beautiful and healthy. And now they have to think about removing their breast tissue and having reconstruction. So that can be very stressful and can change…it can really change a lot in your life, even if you’re not gonna act on it right then and there.
Dr. Fox: I think also, another important point is we have a lot of knowledge about people’s risk of cancers when they have these mutations. But most of the people who were tested for these mutations already had a family history. So if you take, you know, people with a family history, you know, strong family history and they have a BRCA mutation, we have a pretty good sense of what is they’re likely to develop in cancer. But when you take people with zero family history, and you just test everybody on Earth, what’s gonna end up happening, you’re gonna pick up a lot of people with these, you know, let’s say, mutations, but it’s hard to know for sure if their risk is the same. It’s probably lower than the people with a family history, and exactly what it is, it’s hard to know exactly. And then they may all start undergoing operations to remove organs or having all these additional tests and biopsies, and then you can end up potentially even causing harm, because you probably will save a few people and catch cancers early. But you’re gonna have to do all these massive, you know, procedures on people, on a lot of people in order to do that.
So I think people are hesitant about sort of releasing this information to everybody, not just for the sort of mental health aspect of the anxiety of it and all that, but there’s a potential for a lot of additional testing and procedures, which have risk and pain and morbidity and all these things, when we’re not certain it’s really the right thing to do.
Tamara: I think that’s especially important when you do a panel of tests, and you test for a lot of the lower penetrance genes or some of the genes that can protect us against cancer, but that we may not know as much about, that’s when you can get into that murky area of people might go ahead and do prophylactic surgery, you know, to remove their ovaries or some sort of really dramatic or even just increase the number of MRIs and mammograms that could lead to biopsies that were unnecessary. But when it comes to, let’s say, BRCA, I’ll counter what you said, with BRCA, even with no family history, if you all of a sudden find out you have a BRCA mutation, your risk is just as high and it can be life-saving to have that knowledge. But I still think it’s not a decision to take lightly. And you would never send someone and say, “Go get this test.” You would say, “Go learn about the test and see if it’s for you. And seriously consider it.” I definitely agree.
Dr. Fox: Yeah, and I think that that’s, you know, one of the things we’re, obviously, we’re sort of circling around, we’re gonna come to, is how important it is, before undergoing any testing for, you know, cancer genetics, to have really, really good information on the front end. It’s a conversation with someone who knows what they’re talking about, who deals with this, you know, who understands this, is gonna tell you what we’re looking for, why we’re looking for it, what we’re gonna do if it’s normal, what we’re gonna do if it’s abnormal, and can talk to you afterwards. Because, you know, when this thing really gets ugly is when people show up with, like, just a paper, “Here’s my results,” and they don’t know why they were tested or what’s going on. And now it’s really, really a mess. And whereas if people understand what they’re doing on the front end, and why they’re doing it, and it’s more deliberate, I think that the information they’re getting is what they wanna know. And then they’re just sort of working through, “What do I do with the results?” Not so much, “Why was this done or what does this mean?”
Tamara: If you have a deliberate conversation and make a deliberate choice and know what you’re getting into, then when you get the results, you can receive them, and you can actually hear and listen to the results and accept them and then consider the options. Whereas if you’re blindsided, and let’s say you didn’t realize what kind of a test you were going for and then you learn the information, you may almost just shut it out for years until you’re ready to accept it and hear about it because maybe you weren’t prepared. And there are stories of people who thought, “Oh, I’m just like doing a routine test, like, you know, having a checkup,” and then they learn certain pretty heavy life-changing information. So definitely worth a conversation. And it can start with your OB-GYN or your internal medicine doctor. There’s a lot to gain just by talking about your family history and your concerns with your own doctor. And they can help you figure out, like, is this something that I should worry about? Or is this something that we need to send you to someone to talk about, or is this something that’s really not so risky for you? So like an example is many times I’ve spoken to people who said, “So many women in my family had female cancer.” And when you dig deep enough, you learn that they had cervical cancer. And cervical cancer happens to be the type of cancer that’s not really caused by an inherited predisposition, as far as we know today. And so your conversation with your doctor can really alleviate a lot of fears. Sometimes you realize that you actually aren’t truly related to the person in your family with cancer, you know, it was like my stepmother had cancer and all of her children have cancer. But if you… Sometimes a conversation with your doctor can clarify a lot, and help you figure out if you’re high risk.
Dr. Fox: Yeah. I mean, there are situations that people, you know, called me. And sometimes what happens is they said, “You know, I just found out,” or, “My sister just learned that she has, you know, breast cancer and ABC,” or, “She told me that her doctor said that everyone in my family should get tested for cancer genes.” And they’re like, “Can you order the test for me?” I’ll be like, “Whoa.” You know, like, you know, yeah.
Tamara: Right. We just give too many…
Dr. Fox: Yeah, yeah. Like we need to slow down here. Because we need to figure out exactly what does your sister have? Does she have a mutation? Does she not have a mutation? Which one does she have? I mean, all these things needs to be figured out. Otherwise, you’re just doing shotgun testing. And it may lead to a lot of potential interventions and problems and concern and worry that either does not need to be done or needs to be at least contextualized exactly what we need to worry about, what we need to do and what plan we’re gonna have, what tests are we gonna send? And so I think if someone has been told, “You need to test yourself, or your children, or your siblings, or whoever, for cancer genes,” I would always pause and say, “All right, like, let’s have a conversation about that.” You know, who’s gonna talk to me about this? Is it gonna be you? Is it could be someone else? Where am I gonna go? Who’s gonna make these decisions? And I would not just start, you know, asking for blood tests on this without a real thorough talk to make sure that everyone’s on the same page.
Tamara: Yeah. And sometimes what you decide in that first talk is, who is gonna be the first one? Who’s gonna go for testing first?
Dr. Fox: Who’s first?
Tamara: And the best… Yeah, exactly. So it’s sometimes the one who’s most interested or motivated is not necessarily the best person to test. And then we have to figure that one out. You know, usually, you wanna start with the person who’s affected. So you really would love to test the person who has the cancer themselves because…the other one who is most likely to have a mutation. So if your sister suffered from cancer, and you wanna know what your risk is, and you guys are looking into genetics, you should try and see if your sister has a mutation, because if she does, then you get tested. And then either you also inherited it, and now you have that kind of risk. Or you could have not inherited it, because if it came from one of your parents, then each child from your parents would have a 50-50 chance of having inherited that mutation.
And so it’s best to start with the person who’s affected. Sometimes, practically speaking, or just that person is not in the mood or just not interested, you can go to the next step. And then you always will try to test the person who’s the most closely related to the affected person. And you go from there. But yeah, so sometimes you just have to figure out who’s gonna go first. And sometimes families wanna do it all together at the same time, which can work, but sometimes doesn’t work, because some people wanna be more private.
And also, you know, when you talked about that, I’ve also had so many conversations with people who said, “Everyone is getting tested in the family, can you test me?” The risk is, if you test the patient, and you test them for all the cancer genetic predispositions you have, and you do a big panel, looking for all these tumor suppressor genes to see if there’s a mutation in any of them, if it comes back negative, the risk there is false reassurance. So if everything is negative, you don’t want your patient to walk out the door thinking, “I’m not at risk for cancer. I’m good. I could go have a party. I don’t necessarily need to come and have a mammogram every year or colonoscopy when I’m supposed to.” So you need to put those results into the context of the whole family. And even if tests are negative, people have to still adhere to just the routine guidelines for the general population on how we screen for cancer because most cancers that arise are not due to an inherited mutation. So we still have to have our regular guidelines still in place.
Dr. Fox: Right. If the family member who had cancer first has a specific mutation, it is definitely reassuring for…
Tamara: Oh yeah.
Dr. Fox: You have to find out you don’t have that mutation. But as you said, it doesn’t mean you have no risk of cancer, it means that probably you just don’t have an increased risk of cancer. Two questions, one is particular. And a lot of people worry about the idea if they’re diagnosed with a cancer gene, then somehow, you know, their insurance rates are gonna go up, they can’t get life insurance, you know, those types of things. Is that a real concern? Is that a false concern? Or is it sort of we don’t really know yet?
Tamara: So it is a real concern. And it depends on which type of insurance you’re talking about. So there is a federal law called GINA, G-I-N-A, and it’s the Genetic Information Non-Discrimination Act, and which basically says it’s a federal law, and a federal offense for your employer or your medical insurance company to ask about or overhear or consider any of your genetic information when considering employment or considering providing you with medical insurance, or even when calculating the price of your medical insurance. And so that is a nice protection. And so I don’t hear stories of people being dropped from their medical insurance policy due to a genetic information or genetic diagnosis.
The law also applies to military and military position and appointments. But somehow, some insurance groups are excluded. And so I do remind patients that if you are gonna apply for a life insurance policy, for instance, they actually can inquire about and consider and look at your genetic test results. And that could actually really change your risk profile when they’re evaluating you and considering giving you a life insurance policy. Especially if you’re healthy, and you have no medical problems, and now you get tested and you’re 22 years old, and you have a BRCA mutation, now they know there’s up to 80% risk that you’re gonna develop breast cancer, that’s probably gonna affect your rates. And I don’t know enough about life insurance to tell you exactly how it will affect it, but it definitely is fair game.
Dr. Fox: Got it. And then the second question is, and this is in terms of management. So let’s say someone does undergo this testing, they do it for the right reasons, they have good genetic counseling, you know, they’re ready to go, they get the testing, and they find out they have the mutation. So in what way might that change their management moving forward, in terms of screening for and preventing getting cancer? Meaning, is it just knowledge? Or is there really something we can do about it? And obviously, it’s different for every cancer, but let’s, you know, focus on some of the more common situations that we have, like, you know, for BRCA, for example, so what are the options people have at that point?
Tamara: Okay. So if you find that you have a mutation, and you are now told, “Okay, I have an increased risk for ovarian cancer, I have an increased risk for breast cancer, I’m a woman,” there are really three approaches. So there’s increased surveillance. So let’s say your approach is gonna be, “We’re gonna leave your body alone, we’re not gonna do anything different. But we’re gonna be looking at you and checking your organs more frequently and with different modalities, so that if you do develop the cancer, we catch it as soon as possible.”
Dr. Fox: Right, so catching at an early stage rather than a later stage.
Tamara: So that works well with breast cancer, because, fortunately, when breast cancer is diagnosed at stage 1 or early stage breast cancer, the treatment is more tolerable and the life expectancy is really excellent. And outcomes are actually really, really good in the United States at this point in time. And so you wanna address your risk for breast cancer and you wanna go the increased surveillance route, then what you’ll do is, instead of having starting at age 40, normally, for the low-risk woman, we start annual mammograms around age 40. Instead of doing that, you’ll do something that evaluates your breast tissue more frequently. So aside from doing a mammogram, you’ll add an MRI, maybe six months after your yearly mammogram, and you’ll also add physical exam by your doctor to do a breast exam. And so that you’re just increasing the number of times and the way that you’re checking the breast tissue for cancer. So that’s one approach.
And for breast cancer, the other approach would be risk-reducing surgery. So you say, “I have an increased risk for breast cancer. I don’t think that having all this screening and examination is gonna be good for my nerves, or I just don’t wanna deal with that anxiety each six months or every three months,” and you go and you have a surgery, and you have the older breast tissue removed. And that really dramatically reduces your risk of ever developing breast cancer. And then those women can decide, they can be offered reconstruction if they so choose.
And then there’s a third option, which is medical treatment, which is different medications that can actually help prevent cancer from developing, and so different hormones that you can take or medications that would actually suppress or prevent estrogen from acting. And so those are the three main strategies, either increased surveillance, or a risk-reducing surgery, or medication to prevent the development of cancer.
Dr. Fox: Yeah, which way you go is obviously gonna depend on, number one, how likely is the screening gonna be helpful. So for example, for breast it’s “likely to work,” and for ovary, it’s less likely because ovary cancers are harder to detect early. Number two, how big a deal is the surgery, right? Having a bilateral mastectomy is a big deal, right, for women. It’s, you know, you’re having both of your breasts removed. Now, as you said, you can have reconstructive surgery, you know, breast implants, and generally the outcomes are excellent in terms of, you know, cosmetically. But it’s understandably a very big deal to do that. Whereas removing the ovaries as an operation is really not such…it’s a quick operation. There’s minimal…there’s, like, no scars because it’s done laparoscopically. Women don’t know their ovaries are missing except the fact they’ll be menopausal when the ovaries are removed. And so there’s, you know, that consequence, and also how well do the medications work to reduce? If the medications were fantastic, then a lot of people choose that. And that’s something that’s still being developed. There aren’t a ton of medications that people are using a lot of in these circumstances, but I imagine, over time, we’ll hopefully continue to develop more.
Tamara: Yeah. And with breasts, you know, it was very interesting. I spoke to a breast surgeon who works with a lot of patients who’ve had mastectomies or prophylactic mastectomies, he explained that the breast tissue is actually a hormonally reactive tissue. And women who’ve had a mastectomy have expressed that they even…it changes one’s self image, but it also even changes the way that you experience intimacy, changes the way you experience a hug, even, or even, you know, just sexual pleasure, as well. And so it can be very light, like aside from it being a pretty major surgery itself with risks of bleeding and infection, and you have to stay in the hospital. And then there’s different stages of healing from the surgery itself, but then it also does have the potential to have, like, much longer lasting effects, even with the most beautiful cosmetic outcome. So there’s definitely all of that that goes into the thought process of if you’re gonna go forward with it. The benefit being that you don’t have to do all those mammograms and maybe have more biopsies for things that might have looked cancerous but in the end they weren’t. So you go through multiple scares or multiple times where you have new imaging, and you get scared and worried and wait for the results. And so it’s a trade-off. It’s no easy answer but it’s a significant trade-off.
Dr. Fox: Right, right. And it’s hard because for women who have breast cancer, and they’re having surgery and they’re having a mastectomy or a double mastectomy, you know, it has all of those same effects. But to like, “Well, I have cancer, like I’m removing the cancer,” and so it sits well, but for the women we’re talking about, there’s nothing wrong with them at this time, all they have is a mutation.
Tamara: Yeah. And it’s very hard to accept…
Dr. Fox: Yeah, they don’t know what’s gonna happen moving forward. They may never get cancer, they may get cancer that’s caught very early, and then they have a less, you know, significant operation, sort of in terms of what’s done. Or they may end up having the same operation done, anyways, 10 years later with cancer. And so, and since they don’t know which way it’s gonna go, that’s why it’s such a hard decision, whether they’re doing too much or they’re doing the right thing. And I think different people decide differently. I don’t generally have these types of conversation with people, it’s not the women that I care for, but just, you know, the people that I know or the people that, you know, I’ve heard about, there’s definitely a lot of…it’s hard to make that decision, what to do.
Tamara: And sometimes people decide to start off with the increased surveillance. And then you could always change your mind, right? So you can do the increased surveillance, you do your mammogram in January, you get a breast exam in March, you do an MRI in July, breast exam, again, in October, round and round. And after a few years, you may change your mind and say, “I’m gonna go for the surgery.” So, you know, sometimes different people make different decisions based on where they are.
Dr. Fox: Yeah, yeah. Or like with the ovaries, it also depends where they are in relation to menopause. If they’re getting closer to menopause, they may be more likely to wanna remove the ovaries because it’s not as dramatic to have menopause, let’s say, you know, 48 compared to…the average is 51. But if you’re 38, it’s a much bigger, you know, difference. And so that also comes into play…
Tamara: With ovary cancer, there’s no good screening test, right? So we…and it’s hard as doctors and medical providers, you know, you wanna be able to say, “Well, we’ll just check more frequently and you’ll be okay.” But as far as where we stand right now, ovarian cancer is still…has a very high morbidity and mortality. And so if a woman finds out she is at risk for ovarian cancer, and she’s in her 20s or early 30s, we’ll offer them an alternative, which is actually screening. But there’s not a lot of good evidence that it actually does prevent morbidity or prevent someone from getting sick. But what we’ll offer to that younger person is pelvic ultrasound every six months to just look at the pelvic anatomy and look at the ovaries. And we also can offer them a blood test that looks at something called CA125, which, when a woman has ovarian cancer, is usually very elevated. And so it’s called a tumor marker for ovarian cancer.
Dr. Fox: And one of the thing that’s an interesting twist to this is, for women who find out they have one of these genes, these mutations, and it’s significant, and they’re still having more children or they plan to have more children, one of the options that’s available to them is actually doing IVF, testing all the embryos for this mutation, and then only putting back in embryos that don’t have this mutation, meaning to sort of guarantee that their children won’t inherit this mutation from them.
Tamara: That’s just really amazing technology that medicine has to offer at this point. So you have, let’s say, someone comes to you and says, like, “My family has suffered so much, I wanna be able to put an end to this for future generations. If I can prevent passing on my mutation to my children, I would like to.” So you can do that, you can do IVF, they can check those embryos for your exact mutation, and then only implant or put back those that are not affected, which is incredible. And I’ve definitely spoken to families who have chosen to go that route. I have also spoken to families who chose not to, because IVF is sometimes difficult or costly, or whatever. There’s faith that by the time our children will be grown up, there will be other alternatives aside from some major risk-reducing surgery. And people don’t always choose to go that route, but it’s incredible and it is available. And so people, sometimes, decide to do cancer genetic testing or cancer counseling before they go and have children because they’ll say, “Look, everyone in my family had cancer, there’s got to be something, no one had testing. I wanna find out now before I go ahead and have children, and while I still have a chance to do something about it.” So they’ll do the testing. If they find something, then they go to an infertility doctor who can provide them with this opportunity to do in vitro fertilization, as you say, and testing of embryos.
Dr. Fox: Right. And I know that this entire topic of cancer genetics is something that, you know, you’re trained in, and you’re passionate about and, you know, all of us think it’s important. And, you know, we didn’t do this podcast in order to have a shameless plug of the program we’re starting, but we’re gonna do it anyways. And because it’s important, and I think that Tamara and some of the doctors at Carnegie Women’s Health, which is one of the groups I’m affiliated with, are starting, like now, cancer genetics program, exactly for this reason. That it’s hard for women to know where to go, when they have these questions, they have this family history, they’re not sure, you know, what to do, when to do, who to test, how to do it. And so there are programs that are built for this, and this is something that you’re spearheading with the doctors. Can you just explain, like what is the goal, how is it gonna function?
Tamara: The goal is to give access to our patients and to the patients in New York, because it’s important. We don’t want this information and these tests to be difficult to access. And sometimes people feel that it might be. And we have a large group of patients who we take care of when they’re pregnant and there’s more to their life, or there’s more to what they wanna talk about than just the pregnancy itself. And so when we do our annual visits for a GYN visit, gynecology visit, we’ll always take a family history which is detailed. Family histories change year to year, and so one year, a patient might say, “There’s no cancer in my family.” But when you see them the following year, they may have news that someone close to them was diagnosed with cancer, or they may come back and tell us that they themselves had cancer. And so what we plan on doing is using a screening tool to take a detailed family history, specifically looking for cancers and cancer types in patient families. And then for patients who are identified as being high risk, either based on the number of people in the family, or the types of cancers, or age of onset of cancers in their families, we will be able to offer to them the opportunity to have a discussion for pre-test counseling regarding cancer genetics.
And anyone who wants to do that will be able to do that in our practice. In that pre-test counseling, we will make sure that we go over all of these aspects of what’s important. And we’ll be able to provide that to the patients. And anyone who after that session decides they wanna go ahead and do the test will be able to do the test. The test will be sent off, either by blood or by saliva, and test results should come back within a few weeks. And then anyone who needs any sort of specialty meeting with me, as a cancer geneticist, or with expertise in breast cancer or ovarian cancer, will be able to be referred to those specialists as needed.
I think it’s gonna be awesome, because people are definitely thinking about it. And they share it with us almost daily that these questions are on their minds, and they just never had the opportunity or they were offered the opportunity years ago and declined. And now they’re finally ready to think about it. So I think that that’s a very common thing you hear from patients as well, “Yeah, I had cancer, I got treated, didn’t really wanna think about the bigger picture. But now I’m thinking about the bigger picture because my younger sister is that age and I’m actually concerned about her.” Or, “Now I’m getting older and I realized that I do wanna know what else I could be doing to help protect myself.”
Dr. Fox: Yeah. And it could be anything, it could be someone who they themselves have something, or they realize, “Yeah, I do have a family history. I don’t really know, do I need to be tested or not?” And, “All right, come in, you know, we’ll figure it out.” And we’ll talk to you and we’ll make a decision. And so it’s just an opportunity because normally you wouldn’t even know where to go, this type of thing. It’s not like you can…you know, it’s hard to just google this and, you know, show up somewhere and you may end up, again, just like in a lab where they just draw blood, and you don’t really know what you’re getting done.
I’m really excited for this program to start. I think it’s gonna be a huge hit. I think people are really gonna appreciate the opportunity to have these conversations. And for those for whom it’s appropriate and they wanna do it, to have the testing, it’s amazing. And there’s gonna be more and more of this, moving forward, in medicine, in general, and particularly, because it’s, you know, for this podcast, in women’s health, and I think that’s great. And it’s so good to have people who understand genetics to help discuss it.
Tamara: Yeah. And I think people will appreciate having a person, like a live person, doctor to speak to about these concerns. You know, I think that’s the difference. Because you can do testing by calling or by, you know, having a laboratory or speaking to somebody remotely, but when you have your doctor, who you’ve already established a relationship with, I think it’s gonna make people more comfortable to even consider going forward because it is a big decision. So people feel more comfortable when you’re talking to someone who knows you, who’s taking care of you, and it’s a doctor who’s right in front of you who can be there, and you know they will still be there when results come in to help you take whatever further steps you need to take.
Dr. Fox: Amazing. Tamara, thank you so much for coming out to talk about cancer genetics, totally important topic. It’s gonna become more and more relevant over time. And I think that this is really a great introduction to our listeners about what this is and why it’s important and who may or may not want to undergo this testing. So thank you so much for coming on.
Tamara: Sure. My pleasure. It can be life-saving.
Dr. Fox: Absolutely. All right, Tamara, have a good one.
Tamara: You too. Take care.
Dr. Fox: Thank you for listening to the “Healthful Woman” podcast. To learn more about our podcast, please visit our website at www.healthfulwoman.com, that’s healthful.com. If you have any questions about this podcast or any other topics you would like us to address, please feel free to email us at firstname.lastname@example.org. Have a great day. The information discussed in “Healthful Woman” is intended for educational uses only. It does not replace medical care from your physician. “Healthful Woman” is meant to expand your knowledge of women’s health and does not replace ongoing care from your regular physician or gynecologist. We encourage you to speak with your doctor about specific diagnosis and treatment options for an effective treatment plan.