Roundtable Talk with UChicago Medicine: Genetics and Family History of Breast Cancer

NAN CHEN: My name is Nan Chen. I am a breast medical oncologist at UChicago Medicine.

TARA LATTA: I'm Tara Latta. And I'm a breast cancer survivor.

FEIGHANNE HATHAWAY: I'm Feighanne Hathaway. And I'm a genetic counselor at UChicago Medicine.

TARA LATTA: I actually have a strong family history with cancer. So my mom had breast cancer. And then three of my grandparents actually had different types of cancer.

FEIGHANNE HATHAWAY: Had you been thinking about this prior to your mom's diagnosis, or during your mom's diagnosis?

TARA LATTA: Not at all. I mean, at one point-- so she had testing, I would say, about three to four years ago. And at the time, I think they just tested her for BRCA1 and BRCA2. She was negative. And so the message to me as a daughter was, you're good. Don't-- nothing to worry about. Right? And I didn't really think much about it until I was diagnosed at a younger age.

FEIGHANNE HATHAWAY: And then you started thinking more about your other family members having cancer as well, maybe how that might relate to your risk.

TARA LATTA: Yes. And actually, I also started looking at our family history a bit more. And on my mom's side, on the maternal side, not only did my mom have breast cancer, my two great aunts did, as well as my great grandmother. And they--

NAN CHEN: And did you know that at the time that your mom was diagnosed? Or did this all come out throughout her breast cancer journey?

TARA LATTA: Maybe vaguely. But I think it wasn't until my own journey that I started to see, wow, we're four generations of breast cancer right now. And I was very interested. One of my first questions was, could I talk to a genetic counselor?

NAN CHEN: Yeah.

FEIGHANNE HATHAWAY: And were you looking at your dad's side at all, or were you just kind of focusing on mom's? Because we think about breast cancer and we think, oh well, we get those from our moms. Well, we actually get some stuff from our dad too.

TARA LATTA: I certainly consider it a little bit of it. But the only cancer that I knew of was my grandmother on that side. It wasn't as strong as the--my mom's side. But once I met with you, actually, we had our first consult. And you explained that a bit more about how we need to be looking at both sides of the family.

FEIGHANNE HATHAWAY: Yeah, it was a nice--it was an interesting time meeting you at that point because you had not met with your oncologist yet. And you were still in your journey of, what am I going to do with my surgeries? What-- is my fate going to be the same as my mom? So I remember exploring all those things at that time.

NAN CHEN: And that's such a stressful time before you kind of know what the treatment plan is, before you've met with all the people that you need to meet with. I mean, to have all this swimming around in your head, it must have been really stressful.

FEIGHANNE HATHAWAY: And the genetic testing we discussed was a lot different nowadays than when your mom originally did testing because we know many more genes that can cause cancer, not just breast cancer, but also other types of cancer, and why they might all be important to your journey.

TARA LATTA: I was just looking at the-- I think there is 84 genes that I was tested for is probably about that number. And I mean, think about it. Two genes from my mom a few years ago and 84 genes for me.

NAN CHEN: One of the most common questions I'll get from patients about genetic testing is, oh, I got testing back in like 2015, 2016. Should I redo it? And I'm like, yeah. We should definitely send you over to a genetic counselor and see what they have now. And we should get you retested because we know more. And what I tell patients is that 10, 20 years ago, we were testing two genes. Now, we're testing 84. I hope in another 10 years, we're testing 150. So I certainly hope that we make our way towards that.

TARA LATTA: And one of the things that I remember in our conversation you had said was, if any new genes come about that are well validated in the science that we could then retest those, or test those for the first time.

FEIGHANNE HATHAWAY: Yeah. Yeah, I remember talking about that. And also, when I first started doing this over 20 years ago with those just two genes, we also didn't have any treatments for those things. So we were just doing genetic testing because, well, maybe you would choose to remove your second breast. So it was more surgical decisions or risk assessment decisions. But now, Dr. Chen, you could talk a little bit about--

NAN CHEN: Absolutely.

FEIGHANNE HATHAWAY: What is out there now?

NAN CHEN: I think one of the more exciting things that's happened in breast cancer in the last five or so years is that we now have a new class of medications that are called PARP inhibitors, which we know work really well against patients with BRCA1 or two mutations, which are some of the most common mutations we see in breast cancer patients.
And a portion of these patients will definitely-- we know that they will benefit from this therapy. And so now, we have such an impetus to make sure that we are absolutely not missing anybody.
Because now, you could get a new treatment that we know works better than what we used to do. And so if anything, I think this expands the need for us to test and make sure there's not a single woman who could have gotten this medication that benefits them, and ultimately didn't get it. So--

FEIGHANNE HATHAWAY: Yeah, and I think one way to do that is not just-- not everybody has to see me. I think it's great that you and I got to meet. But not everybody with a breast cancer diagnosis has to come directly to me. We now do point-of-care testing where the doctor-- the surgeon can order the testing, the oncologist can order the testing, even the radiation oncologist can order testing.

NAN CHEN: It's so funny because we have kits everywhere. And the idea is just that they're really easy to access, our nurses can grab them, and it's-- we want to make it as easy as we can for the patient. Because we know that it's stressful that women are always ready to do this. And so anything we can do to make the process easier, including even potentially doing the test from home in a location that's more comfortable for them, and feels more familiar. Any way that we get the test, we're just happy that we're able to do it.

TARA LATTA: Funny story about that. Yes, I did. Funny story about that. So my first appointment here at-- in the Breast Center, I walk in and I meet the breast navigator, which was wonderful. First thing she's doing is handing me the saliva kit, which was a breath of fresh air because that was one of my big questions. And to already be 10 steps ahead of me on this, and to not even have to think about it, and she packaged that kit up, and then mailed it off. And then, I had my results I think within 10 days or something.

NAN CHEN: Yeah.

TARA LATTA: It's much faster.

NAN CHEN: Exactly. I think the saliva testing definitely makes things much easier. We don't have to stick you, we don't need to-- you don't have to go to the lab for this. You just have to spit a few times into a little vial and you're good.

TARA LATTA: Yeah.

FEIGHANNE HATHAWAY: And although your results were all negative, and it was really good news, we still talk about in our session why a negative is not a true negative. It doesn't mean that you're not at risk. It doesn't mean that this isn't what's causing the cancer. It just means we haven't identified what's causing it at this point.
And then of course, all different genes aren't treated equal. So we have, yeah-- we know a lot about BRCA1 and BRCA2. But there's also moderate risk genes that put women in just a slightly higher risk, not the same risks. So I think-- it's not that my job is going to ever be ignored, and I'm never afraid of that. But I really appreciated the fact that you came in with your results already.

NAN CHEN: Well, I was going to say that actually as we increase our genes, I think the more likely it is that we'll need genetic counselors to help us figure out what we do with all this. The more things we look for, we may find more things.
And we really need to know, how important is this for the patient? And how serious is this for the patient? How do we better individualize what their care is depending on what the results of this testing is?

FEIGHANNE HATHAWAY: I try to recommend my patients to do it at any time 10 years younger than the youngest diagnosis in the family because that's when you're screening typically would start. However, if you do carry a BRCA mutation, then your risk screening can actually start as young as 25. So there are some conditions. But they're very, very rare that do start at a younger screening. I tell most of my patients that come in, any-- if they're under the age of 25 that we're probably not going to do anything different right now. And it's OK to wait.
But most of my patients, I would say around their mid seconds to 30 is when I start to talk about the genetic risk assessment, and why it's a risk assessment and not just genetic testing.

NAN CHEN: Right. And to that point, I think the very first step is just knowing what your family history is. Tara's family kind of-- or she discovered some of your family history in bits and pieces. And so I think the first step is just talking to your family, and figuring out what your risk is, and then getting a risk assessment to figure out what would be the best option for you at that time.

FEIGHANNE HATHAWAY: No, that's key. We, as families, and each family has a different dynamic. So the older generation is like, why are you asking me these questions? I want nothing to do with this. And the next generation is going, oh, I want to tell you all about my journey. I want to tell you more than you actually wanted to hear. But I think it's very family dynamic dependent. But it's-- these are good questions to start asking your family.

NAN CHEN: Absolutely.

TARA LATTA: I ended up creating a spreadsheet of all the family members because it is one of the most important things to keep updated in your chart, right? I mean, oftentimes, physicians are looking at your chart before you walk in the door. And some of those details are listed.

NAN CHEN: And I am so impressed that you were able to go back four generations. Because I think for many people, that knowledge just isn't there. There's just nobody to pass that down. So--

FEIGHANNE HATHAWAY: Especially in America, in the African-American population, we have an entire generation of people that lost their history completely. And that's really sad. And we need to face that. We need to say, well, just because someone isn't aware of their family history doesn't mean they're not at risk, and doesn't mean we shouldn't be offering genetic testing. Usually, it's-- it's usually a first or second-degree relative if they have it. So you don't yet know--always have to go back four generations.
But it's also, is that family history informative? So there's also these families where there's no women. So you lose an entire generation of information, or you have people who have died at a young age. So if people have died before 50, you have no idea what their risk assessment is because they didn't have time to get cancer. So these are all very important things to think about when you're taking your family history. Are you an only child?
Do you only have uncles? Is the cancer segregating on dad's side? Is it segregating on mom's side?
And what cancers, right? So pancreatic cancer, we know, is very uncommon. So only 1% to 2% of the population will get it. So when you see pancreatic cancer in the family, you go, well, wait a minute. That's a red flag--

NAN CHEN: Absolutely.

FEIGHANNE HATHAWAY: Without any breast cancer in the family. Same thing with ovarian cancers. Rare cancers, young cancers, these are all things that matter. And it's-- and I would say, usually, it's the first two generations. I take a three-generation pedigree just to see actually what is going on overall.

TARA LATTA: As I was preparing for my first appointment with the oncologist, I was certainly thinking about my family history. But I had heard it was difficult to get genetic testing. So I thought it was going to be a bit of an uphill battle where I'd have to make a case and show. And so I did come in with probably more information than I needed. But it was important for me to get the genetic testing. And so I wasn't fully aware of the current state of how it happens and what that looks like.

NAN CHEN: I feel like the first visit is always-- you're just getting so much information. We're talking about your cancer, we're talking about treatment, we're trying to in the back of our minds remember to talk about genetic testing. It's--and then I feel bad that I'm like, oh gosh. I'm really overloading you with just so much knowledge. And so really, kudos to you for being such a great advocate for yourself and knowing so much about what you wanted.
It's obviously disappointing to hear that you thought that it was going to be so difficult to get genetic testing because it really isn't.

TARA LATTA: I know.

NAN CHEN: And if anything, we're trying our best to make it easier. We talked about logistics previously, but also financially, and every other way. And so the fact that the community still thinks it's hard to get, I mean, that's so disheartening.

FEIGHANNE HATHAWAY: It is disheartening. Most people-- most insurance carriers will cover it. It used to be when I-- again, when I first started working, it got up to about $5,000 to do genetic testing. And nowadays, you can pay out of pocket for 250. So it's a reasonable cost. But 250 is a lot for some people-- for some families. 250 means-- is the difference between you paying your electricity bill--

NAN CHEN: Of course.

FEIGHANNE HATHAWAY: Or genetic testing. And that's-- actually, there's lots of programs out there. All the testing companies, because there's more than one now, all the testing companies will actually offer financial assistance. And Medicare covers this. Medicaid covers this. So this is something that we can actually be offering patients even without a diagnosis.

TARA LATTA: There's the WISDOM study, right? And is that free genetic testing?

FEIGHANNE HATHAWAY: Yeah. So there's a couple-- actually, there's several different studies for women. There's the wisdom, which is called Women Inform Screening Decisions of Management. And they offer genetic testing. They only do the nine genes that are associated with breast cancer only. But they'll also get you-- give you what's called a polygenic risk score, which is a risk assessment for your chance to get cancer. So any woman who's 40 and above can actually do this study.
Because we know all breasts aren't the same. Right? So we know that, yes, that'd be great if everybody went and got their mammogram. But mammogram are not good enough for everybody. We need to also be offering MRIs to certain women. So the WISDOM study does that. For men, actually, who have a prostate cancer diagnosis, they can actually do the PROMISE registry and do genetic testing free of charge as well. And that's all online. You can do that from the comfort of your home for both the WISDOM and the PROMISE registry. So--

NAN CHEN: And I think, again, this is an effort on our part to say that screening should be individualized. We shouldn't be doing the exact same thing for every woman. Every woman's family is different. And so we should be thinking of better ways to tailor our screening, our treatment, to what the patient actually needs. You need a village to take care of breast cancer patients, and even patients who are at risk of breast cancer, because we found something on genetic testing but don't have breast cancer. It still takes a village to take care of them.

FEIGHANNE HATHAWAY: Yeah, and I think it really depends on one's own journey on finding that mutation. Right? Do they have a strong family history? And so they're a little more scared. And so maybe they want to do something prophylactically. Maybe they do want to remove their breasts.

NAN CHEN: Yes.

FEIGHANNE HATHAWAY: And back in the day before we had MRIs, we had to be recommending those things because we weren't confident in our screening to detect early-stage breast cancer in high-risk women. And now, we do have different mutations, right, and different genes that are associated. So now, so if you're at moderate risk, well, you have a different recommendation. Yes, you might want to do MRIs in addition to your mammograms. But you don't necessarily jump to prophylactic surgeries.
And of course, each gene also has other cancers that can be associated. So it's great that we're all talking about breast cancer here, but some of these genes are also-- puts you at higher risk for ovarian cancer, which is even more scary because we have no screening for ovarian cancer.

NAN CHEN: Absolutely.

FEIGHANNE HATHAWAY: Some of these genes also put you at higher risk for colon cancer. So maybe your interval for colon screening needs to happen a little bit earlier. And then we have drugs. So this great thing called tamoxifen.

NAN CHEN: Yeah, exactly. I mean, there are medically drugs we can give such as tamoxifen to lower your breast cancer risk. There are things we can do with surgery. And as Feighanne mentioned, we can change your screening. So again, I think the main point is that there are options, that this is not just information for you to take home and put away in your drawer, that you should see us, you should talk to us. We should talk about your options. We should talk about what makes sense for you.
And what makes sense for you now may not make sense for you in five years. Right? We hope you're still cancer free in five years. Maybe at that point, you'll say, things in my life have changed. I want to do something a little bit more proactive about this. Yeah, let's talk about it. There are things that we can do.

FEIGHANNE HATHAWAY: Dr. Chen, a lot of my patients that come in that don't have cancer yet, they go, oh well, tamoxifen, that's chemotherapy. Aren't they-- I mean, they get very scared. I mean, what do you say to those patients?

NAN CHEN: Absolutely. I think that there's a lot of misinformation out there about what our drugs are and what they do. And they think that they'll get sick when they take it. And the way that I describe it is that these are pills that only act on your estrogen pathways. And so they're not like chemo at all. And it's a pill. The really lucky thing we have about giving pills in that context is that I'm not actually treating anything. I'm trying to use this to prevent something.
So let's say you take this pill, it's not going very well, the side effects are out of control. We should stop. We should say that we tried to do this thing. It didn't work out for us. And we should stop. And it's a pill. So it'll be out of your system in a few days. So it's a really dynamic process. It's really not one size fits all. And if we are able to do it for some time, it maybe didn't work out, that might be better than not doing at all. But yeah, there's a lot of options.

TARA LATTA: Is the lower dose just as effective for preventative care?

NAN CHEN: So that's a really good question. There actually recently has been a lot of research in a lower dose of tamoxifen. Right now, we only have long-term survival data in patients who have pre cancer, such as DCIS, or LCIS, and ADH. And actually, that study was really encouraging because essentially, what they did is they gave half the patients this really low dose of this medicine, and half the patients didn't get any medicine. And they saw a 50% decrease in cancer-- invasive cancer events.
And so I think the majority of people can tolerate this very low-dose medication. And so that is definitely an option. I'm really happy that I can now discuss that with patients and kind of say that we have long-term data that this is safe, and this will work pretty well. And so if we can't use the regular dose, then the low dose may be the option for you.

TARA LATTA: Can I ask a question just about the-- with the-- do the-- if they don't have any sort of breast cancer yet, can they get the genetic testing through their primary care?

NAN CHEN: Yeah.

TARA LATTA: OK.

NAN CHEN: Absolutely.

FEIGHANNE HATHAWAY: So that might be something. Because it sounds like it's mostly for breast cancer patients, or potential--

NAN CHEN: Or they have to come into a cancer center--

TARA LATTA: Yes.

FEIGHANNE HATHAWAY: So that might be something to mention.

NAN CHEN: Yeah, that's a really good thought.

FEIGHANNE HATHAWAY: I think that's one of my new pushes is we're trying to push point-of-care testing. So whether that's through the primary care, whether that's through your surgeon for the first time, whether it's through your mother's doctor, just trying to push more genetic testing. Because we know we're under testing. We know we're not capturing enough people.

NAN CHEN: And we also know that the way that we utilize genetic testing now still has racial disparities, socioeconomic disparities. And so, how do we better capture the population that we're really trying to capture? By expanding coverage, expanding access, all those things.

FEIGHANNE HATHAWAY: Absolutely. No, that's a key takeaway. That's one of our big pushes too.

NAN CHEN: Absolutely.