Transcription:
Genetic Counseling for Cancer: What Is It and Should I Get Tested?

Melanie Cole: Have you ever wondered what it's like to get a genetic test and what you would even do with the information once you got the results? I know that I have. Welcome to Bryan Health podcast. I'm Melanie Cole. And today, we're talking about genetic counseling and testing. Joining me is Maddie Kaltenberger. She's a genetic counselor with Bryan Health.

Maddie, I'm so glad to have you join us today. Can you tell us, as we get into this topic, what is a genetic counselor's role in oncology? What is a genetic counselor? Tell us a little bit about the training that you have to receive to do what you do.

Maddie Kaltenberger: Yes, absolutely. So, genetic counselors have to participate in a two-year long master's program in genetic counseling. And then after our master's program, we have to be board-certified, so we take a board exam so that we can practice as genetic counselors. And you mentioned genetic counselors working in oncology, but as we're learning more about the field of genetics, genetic counselors actually specialize in a bunch of different areas like prenatal, pediatrics, neurology, cardiovascular. And I specifically work in oncology just because my passion is in preventative medicine and I just really like working with this patient population.

Melanie Cole: Well, I can hear that in your voice. So what role does inherited trait play in developing cancer? And as you say, we're learning more about genetics in many different aspects of the health field. But specifically for genetic testing for cancers and things like that, why might someone be referred to a genetic counselor?

Maddie Kaltenberger: I think it might be helpful too to give you some background on genetics, just so I can put your question into context. So it might be a science review, but our genes are basically segments of DNA that I like to say they act as a blueprint and they tell our cells how to function by making different proteins. But overall, these proteins have the main goal to keep our cells healthy.

When we talk about cancer, cancer really is a disease in which our cells are growing out of control. And this most often happens randomly. I think it's like 80% of the time, our cells just can have random mutations that happen because they're always growing, they're always dividing throughout our lifetime. But sometimes, we can have an underlying gene mutation and that's what we talk about when we're referring to hereditary cancer. And this is talking about somebody who maybe inherited a gene mutation from their mom or from their dad that they were born with, and this puts them at an increased risk to develop cancer.

We all have two copies of those genes that I was talking about. And so if someone is born with a copy that has a mutation or a change in that DNA sequence of their gene, that one copy is not working, which is why we talk about them being at an increased risk to developing cancer. So when we see individuals who have a strong family history of cancer, maybe family members are getting cancer at a really young age, that might be something that's indicative of there being a gene mutation running through their family, that could put those family members at an increased risk to develop cancer. And that's when we might see somebody being referred for genetic counseling and genetic testing.

Melanie Cole: So let's talk about the genetic test itself, because I think that's the biggest question. We've heard about BRCA gene for breast cancer, and that can be used for other types of cancer as well. Tell us about the types of genetic testing that are available, and germline versus hereditary cancer risk, somatic tumor testing. Can you kind of tell us a little bit about what's going on in this field and why there are different kinds, what they mean even.

Maddie Kaltenberger: Yes, absolutely. And this is the question I get asked all the time with patients, especially those that are going through cancer treatment themselves just because there's some confusion from their oncologist. They say, "Oh my gosh, I've already had genetic testing." And we're talking about the difference between, like you said, somatic and germline.

So somatic testing is talking about, like I said before, those mutations that we can just acquire over time. Those are things that as our cells are constantly dividing, those are mutations that just happen. They're only in some cells of the body, maybe just specifically those cancer cells.

When we talk about a germline mutation, that's a mutation that we were born with. That's something that is present in every single cell in our body. And that's what we do when we do genetic testing. We're looking for those germline gene mutation, somebody who has, like you said, maybe a BRCA mutation in every cell of their body.

Melanie Cole: Such an interesting topic. Now I think one of the big things and it's something that's really kept me from doing it is the fear of the results. What do you do with the results? What's that counseling like? I mean, how do we decide? We hear about prophylactic mastectomies. We hear about all these different things. So what do we do with those results? Who do we tell and who also finds out about these results?

Maddie Kaltenberger: That is something that we definitely go into a lot of detail because that's a lot of people's primary concern before they go through the genetic testing process is what are these results mean for me and how can they be used?

So I think there's two different categories that we can talk about. We can talk about this in terms of individuals who already have cancer or maybe have a personal history of cancer. And then people who are doing genetic testing for more of a preventative approach. Maybe they just have a family history and they themselves have not had cancer.

So somebody who currently has cancer, they might get a recommendation for genetic testing from their oncologist and that's because some individuals who have this germline mutation in certain genes, that might make them qualify for certain types of treatment actually. So, I think that's one important thing that they can do with results.

But something that is also important is individuals might be at risk for developing other types of cancer. So that's something that their oncologist is wanting to know while they're going through the treatment process, is are there other types of cancer that we should be watching out for? And also it can impact surgery decisions. I know we've talked about that BRCA mutation, somebody who maybe has a BRCA mutation BRCA1 or BRCA2, they might decide to do surgery differently. So maybe rather than just doing a lumpectomy, maybe they're wanting to do a double mastectomy. And so those are all options that they can weigh the pros and cons out when they make those surgical decisions.

So for individuals who maybe just have a family history of cancer, but don't have a personal history of cancer, there's a couple of different things that they can do with those results. First of all, it depends on what the gene mutation is and what the guidelines. We follow some guidelines as genetic counselors based off of somebody's genetic change or the gene mutation that they have. And the guidelines might make recommendations for their medical management moving forward.

So somebody might have the recommendation to do mammograms every year, but also incorporate something called breast MRI. And they alternate those screening options every six months, just so that they're always having some kind of screening so that we can be vigilant about their breast cancer risk or somebody who might have an increased risk for colon cancer based off of a hereditary cancer syndrome, it might be recommended for them to do colonoscopies every five years, rather than every 10 years.

I know you had touched on what do I do with these results for my family members? That's also something we talk about a lot in genetic counseling, so that people feel comfortable about if they were to get back a positive result, how are they going to share that information with their family members. And that's something I help them navigate.

I write up I call them family communication letters patients can share with our family members so that they know what to expect. And they know that they're really supported in the process of sharing that information with family members.

Melanie Cole: I love that you do that, that you write a communications letter, because I think, you know, whether you're talking to an old person about moving out of their home or telling your family members that you tested positive for a genetic mutation, sometimes it's the wording. I mean, clearly I don't have trouble with words, but I mean, you know what I mean? It's the wording. What a great service that is.

So Maddie, tell us a little bit about insurance implications, because I think that's another huge concern with people. They wonder now, is it going to affect their health insurance, life insurance? Who do they have to tell? Do they have to tell their employer? Can you tell us how you counsel people on the insurance implications of hereditary cancer type?

Maddie Kaltenberger: It's a great question. There is a law that was passed in 2008 and the law is called GINA, like the female's name, Gina. And it stands for the Genetic Information Nondiscrimination Act. And that law is something I talked to my patients about because it says that your health insurance cannot consider a gene mutation a pre-existing condition. They can't raise the rates. They can't kick you off of your health insurance plan if you do genetic testing and get back that positive result.

It also means that employers in companies of 15 or more people, they can't make firing decisions based off of a gene mutation. So I think that's really important to talk about with patients, but also GINA does not protect against a couple of things and that's life insurance, long-term care insurance and disability insurance. Because GINA doesn't protect against those things, I really like to give people a heads up in case they're actively seeking out a new life insurance policy, for example. Those life insurance companies, they're aware of this genetic testing, they know that it's something that individuals are doing. And so if somebody is applying for a new policy or maybe trying to upgrade their life insurance policy, these companies can actually ask, "Have you had genetic testing?" And I think it's important that we talk about it, so that if somebody is considering doing the testing, that they get those policies in place beforehand.

Melanie Cole: Well, thank you for clearing that up. I have so many questions, but we don't have a lot of time, but you know, there are some on the market, 23andMe, you know, there's direct-to-consumer testing. Can you tell us why we should or should not be considering using those as opposed to coming to an expert genetic counselor such as yourself?

Maddie Kaltenberger: Yeah. And honestly, Melanie, this is a really hot topic sometimes in genetics and with genetic counselors. And it's something we talked a lot about in my training as well. I think there's a lot of pros and cons. We call it direct-to-consumer testing. There's a lot of benefits to it. And that I think anything that gets people really passionate about preventative medicine, anything that really gets people engaged in their genetics and they want to learn more about it, I think that is a really great thing.

But sometimes, when we talk about direct-to-consumer testing, there can be a little bit of a disconnect with what people expect from this testing. And, people might say, "I did this 23andMe test and it told me that I did not have a BRCA2 mutation, even though I have this strong family history."

While what this testing does, what that 23andMe or any other direct-to-consumer testing does is they look at some of the most common mutations that are found in the population. They might look at only three common mutations when there are hundreds of mutations that can happen in that BRCA2 gene that we're talking about. And that's just one example because I know sometimes those tests look at many genes, but they're only looking at some of the most common changes that we find in the population and they're not necessarily looking at every change that could happen. And so sometimes that can give people a misconception, when really they should be seeing a genetic counselor and doing clinical genetic testing, just so that we're being really thorough and we're giving them the most accurate information as well.

Melanie Cole: That's very important. As we wrap up, Maddie, if someone's interested in genetic counseling, how do they get in touch with you? And what would you tell someone that might be scared to take that first step and see a genetic counselor. For someone that might not want to know or might want to know, give us your best advice and tell people how to get in touch with you.

Maddie Kaltenberger: I am currently located at Bryan LifePointe Campus. If people are wanting to set up an appointment, they can go ahead and give the desk a call at 402-481-6305 to set them up with an appointment. And what I would tell somebody who is considering this whole genetic testing process, that just setting up an appointment with me does not mean that they have to go through genetic testing. I like to tell people that it really is just a conversation and that's why I'm here so that we can talk about some of these risks and benefits of the testing. We can talk about different family dynamics and if they're concerned about how this might impact their family members. We can talk about the logistics of the testing as well.

I think it's important just to note that it's just that conversation that we're having. It doesn't mean that they have to do the testing. That's one of the main reasons why we do this. I call it a pretest visit because we just talk about some of the benefits, the limitations of the testing. We talk about how it could impact their insurance. We talk about how it can impact their family members. It really is just the conversation that we have. It doesn't mean that anybody has to do the testing.

So if somebody is nervous, I always tell them, "You know, what, set up an appointment and we can just have a chat" or even if they just want to give me a call before setting up that appointment to talk about some of their major concerns. I'm really just here as a resource to be able to talk that information through and be able to ease some of people's anxiety that they're having about genetic testing.

Melanie Cole: Thank you so much, Maddie. Well, you answered a lot of those questions here on this podcast, so they can listen to this podcast and get a lot of those questions answered. I know you answered a lot of my own personal questions, so thank you so much for sharing your expertise with us today.

And to schedule an appointment at our Bryan LifePointe Campus, please call 402-481-6305 or you can head over to our website at bryanhealth.org for more information and to get connected with one of our providers. And I want to thank our Bryan Foundation partner, Inpatient Physician Associates. That wraps up this episode of Bryan Health podcast. Please remember to share on your social channels because we're learning from the experts at Bryan Health together. I'm Melanie Cole. Thanks so much for listening.