Rachelle Huziak, Certified Genetic Counselor with the UPMC Cancer Genetics Program, discusses the pros and cons of genetic testing for breast cancer and explains how the process works.
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– This podcast is for informational and educational purposes only. It is not medical care or advice. Clinicians should rely on their own medical judgments when advising their patients. Patients in need of medical care should consult their personal care provider.
– Should you undergo genetic testing for breast cancer, and what’s involved in the process? Hi, I’m Tonia Caruso. Welcome to this UPMC HealthBeat podcast, and joining us today is Rachelle Huziak. She’s a certified genetic counselor with the UPMC Cancer Genetics Program. Thank you so much for joining us.
– Thank you for having me.
– So much to discuss here. And let’s first really tell folks about the UPMC Cancer Genetics Program and what you all do there.
– Absolutely. So, the Cancer Genetics Program is made up of a set of certified genetic counselors, and we work under the direction of a medical director. Her name is Dr. Phuong Mai. Ultimately our goal is to provide genetic counseling to patients and their families who may have concerns for an inherited cancer predisposition. So oftentimes you think of, you know, genetic testing, and of course that is something that we coordinate and facilitate for people, but it’s not the only thing we do. So really our goal is for risk assessment. So to assess what’s the likelihood that this family history is due to something genetic, and if not, or if it is, you know, what’s the likelihood that this person would develop cancer over their lifetime? So it’s really about risk assessment, to help individuals make these informed decisions about their health.
– What percentage of cancers are actually genetic?
– So that’s a great question, and it’s actually a lot lower than you would expect it to be. So only 10% of cancers are actually hereditary, where we identify one single gene that’s not working that we can say, “This is the cause of the cancer history in the family.”
– Wow. That is surprising.
– Because you often think the first thing you hear, if my mother had breast cancer, I have a better chance of getting it. Are people surprised by that sometimes when you have that discussion?
– Absolutely. Absolutely. So I think that that’s a pretty big shock to patients when they come in is to hear that 10% number. Most breast cancers are actually completely sporadic. So 60% of the time they happen by chance alone. And we really aren’t able to identify why they happen. And then about 30% of the time, which I think this can be where that family history kind of comes into play, we do see what we call a familial predisposition to cancers, where we can tend to see clusters of cancers in someone’s family, but it’s due to these shared genetic environmental lifestyle factors, things that we tend to share in common with our relatives, where we can see these cancers clustering in someone’s family, but they’re not because of a single gene and we’re not going to find something on genetic testing in those families.
– So I know there are requirements, and we’ll talk about those, but I’m wondering, then, especially if there’s such a low percentage, who should consider seeing a genetic counselor?
– So there’s actually a number of things that we look for. So, you know, just to kind of walk through some of the features and patterns that we look for, we look for people who are closely related to one another with the same or related kinds of cancers. We look for this generation-to-generation pattern of cancers. So knowing that cancer itself is not passed down, but if there’s a predisposition, then that does run through families. So you tend to see someone in every generation with a related cancer type. We look at the ages of diagnosis. So, for example, breast cancers, we know are really common, and it’s common for women over their lifetime. The risk is about 12% for women to develop breast cancer. And we tend to think of it as a disease of aging — so the older we get, the more likely we are to develop breast cancer. So when we see these occurring at younger- than-expected ages, so 45 and younger especially, we think, “Can there be some component that’s increasing this risk and putting this particular person at a higher chance of developing cancer at a younger age?” We also look for things like people who personally have had more than one kind of cancer themselves. So not cancer starting somewhere and spreading somewhere else, but separate primary diagnoses of cancers. We look for rare cancer types like women with ovarian, men with a breast cancer, pancreatic cancer, things that we’re just not always seeing in people’s families. And then we take into consideration things like ethnic background. So we know individuals of Ashkenazi Jewish ancestry are more likely to have inherited cancer predispositions, especially when they have a family history of breast or ovary cancer.
– Why is that?
– So it’s actually what we call a founder population. So a subset, you know, a long, long time ago broke off and became the Ashkenazi Jewish population. And they must have had these hereditary predispositions in that smaller group. And then they just rose in frequency. So we’re more likely to find something in someone of Ashkenazi Jewish ancestry.
– I know, though, there are eligibility requirements, and talk a little bit about that. ‘Cause on the one hand, I’m like, “Why wouldn’t everybody get tested? So then, you know.” But it’s not that simple.
– It’s not that simple. And I think kind of the take-home is if someone’s concerned about their personal or their family history of cancer, don’t be worried about making an appointment. We’ll walk you through it, we’ll assess your family and talk about the likelihood. But overall, the criteria for genetic testing, it’s complicated, and it’s always changing. So we follow what we call the NCCN guidelines, the National Comprehensive Cancer Network guidelines. And these are generally released on an annual basis. However, they’ll make changes to them throughout the year. So we may have as many as four different versions in one year, and we’ll follow those to decide who is eligible for genetic testing. Typically, it’s including things like a personal diagnosis of breast cancer at or under 45 years of age. It’s going to cover someone with breast cancer who has family history of more than two people with breast cancer. It’s going to cover individuals who have ovarian cancer, men with breast cancer, and then different patterns. It also includes testing guidelines for people who have a family history of a genetic predisposition to cancer. So if someone in their family has already undergone testing and has a mutation in a particular gene, then we’ll often see their relatives to test for that specifically.
– How do most people come to see you? Do people self-refer? Do PCPs refer? What’s that look like?
– All of the above. So we can get self-referrals, we can have referrals from physicians. Generally, what happens when someone is diagnosed with a breast or a gynecologic cancer, they’ll often get referred to us either by their surgeon or by their oncologist. They’re, you know, very aware of these guidelines, and they’re aware of our program. And generally if their patient meets that criteria, they’re going to be the point that they say, “Hey, I think you should consider genetic testing,” and make that referral to us. We also get patients who have a family history of cancer. You know, when you go to your PCP or you go to your gynecologist, that often does involve a discussion of family history. And usually, the physicians are able to see kind of these patterns that we look for and make the referral at that point. But ultimately, sometimes we just get patients who heard about us through somebody else, or maybe read a research article or heard something in the news, and then they Google and find our program and get to us just purely by self-referral.
– So what’s the upside of, I guess, knowledge is power. So what are the benefits of genetic testing?
– Yeah. So I think the No. 1 benefit is to provide an explanation for someone’s personal or family history of cancer. So if we are identifying something hereditary in the family, then they can have an explanation for why they got cancer young or why so many people in their family have had cancer. On the flip of that, when we’re not finding something hereditary in their family, which is the majority of the time, it can really provide some reassurance to that patient and to their family members to know this is not due to something hereditary. And although our family may be at slightly higher risk, we’re not at that significant increased risk for cancers like we would be if there were a genetic component tracking through our family.
– How does it help on the preventive side?
– Absolutely. So, this can help with management recommendations. So when we identify some kind of genetic predisposition in the family, then we can use that information to make informed decisions for the patient, for their relatives. So for someone who tests positive for a genetic predisposition to cancer, there’s kind of three or four different categories that we talk about. One is increasing screening. So they may start their screening earlier or do it more often. One is consideration for risk-reduction medications. So there may be some medicine that they can be prescribed that can actually reduce the risk of developing cancer in the first place. And then, of course, there’s the category of surgery. So we know that, you know, for women, they may have a higher risk for breast or gynecologic, particularly ovarian cancer. And there can be consideration for risk-reduction surgeries to help reduce the likelihood of ever being diagnosed in the first place. And then for women and men who actually personally have cancer, if we identify that there’s a genetic component to it, then there may actually be treatment implications for them. So there are different treatments that we can target depending on if there’s a genetic predisposition, what that is specifically.
– So then, why wouldn’t everybody do this? Are there downsides to genetic testing? And talk a little bit about that.
– Yeah, so I think the No. 1 consideration is, not everybody wants to know. So it’s a very personalized, very individual decision. And so some possible downsides are really just our testing’s not 100%, so it can provide kind of a sense of false reassurance to individuals. So if we do this testing and it comes back normal, they may feel like, “Oh, I’m good. You know, I don’t need to do anything.” And that’s not true. We know that everyone has risks for cancer, even in the absence of something genetic going on in their family. And then our testing is not perfect. So there, you know, our technology is not 100%. So a negative result could mean that there’s just something that our technology can’t pick up, or maybe there’s a gene we haven’t discovered yet that actually is the cause of the cancers in the family. So it can be this kind of false reassurance. And then, also, there can be psychological impacts from testing. So, people may just have so much anxiety from these results and feel like if I have a genetic predisposition to cancer, I’m going to wake up every day and think today’s the day, today’s the day I get diagnosed with cancer. And sometimes that anxiety can actually be more of a problem than not knowing at all. And so patients may at that point decide that it’s not the right decision for them. And then, also, guilt. So these are inherited predispositions to cancer. These run through families. For people who test positive, then their children would be at risk to have inherited one of these genetic predispositions. And that can come with this whole level of guilt. And of course we know that if we got to pick what we passed on to our children, we would not choose to pass on a mutation that increased their cancer risk, but it can be really hard for individuals who are parents to kind of separate those feelings.
– So is genetic testing covered by insurance?
– So, it can be covered by insurance. And so this is where it can get complicated. So, typically our insurers are using the NCCN guidelines — that National Comprehensive Cancer Network guidelines — and they generally will mirror those guidelines to decide whether or not they’re going to approve genetic testing. Now, different insurers actually do have different guidelines that may be stricter than that. And so that’s one of our jobs as a genetic counselor is to be aware of what those guidelines are. So we can tell the patient, “Do you meet your insurance criteria for testing?” Because it can be expensive. So, you know, just because something is authorized or approved does not mean that it’s going to cost that individual $0 because we know it’s subject to deductibles and max out of pockets if they haven’t been reached for the year.
– So obviously it would depend on an individual’s insurance. So what’s kind of a ballpark of something that is covered? And then if it’s not covered, how much could genetic testing potentially cost?
– Yes. So if it’s covered, generally speaking, most of our patients have an out-of-pocket of less than $100. If it’s not covered, it can cost into the thousands, which is why it’s really important that that person meets criteria for testing. And something else — when patients don’t personally have cancer, especially female patients, this can be covered under the Affordable Care Act as a preventive service. So, yeah. So to kind of look for that future risk of breast and ovarian cancer. So for those individuals, it may be a $0 out of pocket.
– But always good to have the conversation.
– Absolutely. And you would have to meet criteria through your insurance company to be eligible for that $0 out of pocket.
– And you discuss all of this when the patients come in. Can you walk us through the process and what that looks like?
– Absolutely. So the first step is to make an appointment. And then once the individual — oftentimes, they’ll bring family members to their appointments with them. And the first thing we do is we review their medical history. And then we take a very detailed family history. So we actually draw it out into a picture form that we call a pedigree. And this helps us to look for different patterns of cancers that run through the family to see it in this picture form. And then we take that family history and we provide a risk assessment. So what’s the likelihood that what we’re seeing is due to that genetic component, or do we think it’s more likely familial, or do we think that we’re just purely looking at sporadic cancer diagnoses? So we always categorize the family that we’re seeing. And then we talk, when appropriate, about that genetic piece of cancers and what we’re looking for, what kind of information we would receive if we did genetic testing, what those management recommendations would look like if someone has a genetic predisposition and what is the family impact, who else would need tested if we find something? And then we walk through test results. So, you know, we kind of we’re able to know, you know, what the possible results are. So that way, whenever we get those results back, they kind of have a heads-up that this is a possibility.
– Is it a saliva test? Is it a blood test? What’s that look like?
– Generally, it’s a blood draw where we take about one tube of blood. However, there are some different labs available that do offer saliva tests. So if the lab has an option, we do leave that up to the patient. And then once genetic testing is done, which is usually accomplished the day of the appointment if the patient meets criteria and is motivated to do so, then we would get their sample before they leave. And we would generally have those results back from testing in about two to three weeks. And then once we get those results back, we always call the patients directly. We talk with them specifically about what those results are, what they mean for them, what they mean for their family. And then we take that information, put it into a letter form, send them a copy of that letter with our recommendations. We send them a copy of their results. And we also send that to their referring provider and any other physician that they want to have that information.
– So do you have people come through, and I know you mentioned when they come for an appointment, they, you know, family history and you walk through lots of things. Do you have people that you have that initial appointment with? And then they say, “No, I’m not going to do the testing.”
– Yes. All the time, all the time. So at the end of the appointment, we always say, “After hearing all of this information, what are your thoughts? What are your questions? What are your concerns? Is this something you want to do or not?” And we always leave that option open for the future. So some people just really need a little bit more time to think it over, to talk it over with their family, because this is really, I don’t want to say the only test in medicine, but it is a big test in medicine that does not only impact the person sitting in your office. It impacts their family members, and people are really aware of that and want to make sure, “Do my kids, do my brothers and sisters want to know this information?” Because it impacts them just as much as the person sitting across from me does.
– Right. And when you do genetic testing, is it specifically for cancer, ’cause you’re in the cancer program, and is it specifically breast cancer, or when you do this genetic testing, does it search for breast and ovarian and pancreas? Like, what does that look like?
– Yeah, so it depends on the person’s scenario. So for the most part, we’re doing what we call these cancer gene panels. So we’re looking at more than just the BRCA genes that you may have heard of and I think most people are somewhat familiar with. So generally what we do is look at more than those genes, and we kind of look at the most targeted panel that’s going to give whatever information is needed for the family. So if they have a family history of certain cancer types, we would make sure that we’re including genes that increase risk for that particular kind of cancer. And just to kind of make, I think that this can be a misconception as well, is that what we’re looking for are mutations, or changes in these genes that put us at an increased risk. When someone has a mutation in a gene, it does not mean they have cancer. It does not mean they’re going to get it. It just means that their risks are higher. So we can then follow them more appropriately based on whatever that level of risk is.
– Can you do genetic testing for other types of illness beyond cancer?
– We can, and our program does not, but we do have, through UPMC, we have prenatal genetic counselors. We have adult genetic counselors, we have pediatric genetic counselors. And so sometimes that does come up in sessions where they say, “Well, you know, here’s my cancer history. However, I also have this particular genetic condition running through my family.” And so one thing that we would do at that point is make a referral to the more appropriate genetics provider to discuss testing for that.
– So as we wrap, what really do you want to say to someone about what they should be thinking about and considering when trying to make the decision as to whether they should receive genetic counseling?
– Yeah. So I think if they’re, for genetic counseling in general, if they’re concerned about their personal or family history, make an appointment, come have that conversation. Just by coming for an appointment does not mean that you have to move forward with genetic testing. We’re going to talk you through all of those possibilities, the benefits, the limitations, and allow you the space to make that decision in your own time. So I would say if anyone’s worried about it, you know, come see us. We actually will have people call kind of ahead of time and say, “Hey, you know, would my family meet criteria?” Because they only want to come if they meet criteria. And so we’ll have a lot of those conversations. We have very skilled schedulers who are very aware of that information and can help a patient decide if they even want to make an appointment. But really, I would say if you have questions, just call and ask.
– What do you love most about your job, and how did you end up in this field?
– Yeah, I love my job. I love that patient interaction and seeing families when it might not be the best time in their lives, especially if they’re undergoing a cancer diagnosis and having treatment coming up. And so I just like being a person that they can rely on. And we’re really lucky because we get to spend an hour-plus with all of our patients. And, you know, typically when you go into a doctor’s appointment, you don’t have that amount of time to spend with them. So I think we really do develop these relationships with our patients and become an advocate for them. And we joke around about genetic counselors, if you don’t know the answer to something, we find it for you. So we will figure it out. And we really, our goal is to help patients. And that was really what led me to this field. I loved genetics. I loved science in high school, but I knew that I didn’t want to be working behind a lab. I wanted to have this patient interaction, and it just really combined all of my interests.
– Well, Rachelle Huziak, thank you so much for coming in and spending time with us today. Some really good information. Thanks for your time.
– Thank you.
– I’m Tonia Caruso. Thank you for joining us. This is UPMC HealthBeat.
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