I’ve Seen the Advancements in Genetic Testing Firsthand

[00:00:00] Adam Walker: From Susan G Komen, this is Real Pink, a podcast exploring real stories, struggles, and triumphs related to breast cancer. We’re taking the conversation from the doctor’s office to your living room.

Genetic testing gives people the chance to learn if they’re at a higher risk of breast cancer, if their family history of breast cancer, or if their breast cancer is due to an inherited gene mutation.  In the past, breast cancer genetic testing only checked for inherited gene mutations in BRCA1 and BRCA2 genes.  However, we’ve seen tremendous advancements and genetic discoveries in recent years, and it’s now common to be tested not only for BRCA 1 and 2 gene mutations, but also for mutations in multiple other high-risk genes.  Today’s guest, Laurel Pointer, has felt the impact of these advancements first-hand in her family over the past two decades and is here to share her story with us. Laurel, welcome back to the show!

[00:00:56] Laurel Pointer: Thanks, Adam. It’s great to be here.

[00:00:58] Adam Walker: Well, it’s great to see you again. So let’s just set the stage. Can you fill our listeners in on your family history of breast cancer?

[00:01:06] Laurel Pointer: My mom, her sister, two of her cousins, my great aunt and my cousin have all had been diagnosed with breast cancer at some point. So we have a long family history of breast cancer.

[00:01:21] Adam Walker: That… I didn’t count how many people is that? That was quite a few.

[00:01:25] Laurel Pointer: Yeah. So we’re seven, maybe eight. We have a great aunt we really think had it, but she didn’t talk about it.

[00:01:33] Adam Walker: Okay. All right. So when your mom and aunt were diagnosed, did your family undergo genetic testing? Like, how did all that come about?

[00:01:40] Laurel Pointer: So, yeah, shortly after my aunt was diagnosed for the first time, she I, we asked the doctor knowing that I worked at Komen, you know, I was very much into learning what we could learn. And we said, Hey, do we need to do genetic testing? And at the time the doctor said, no, neither your mom’s or your aunt’s breast cancer really meet the requirements that are related to BRCA1 and BRCA2. They had different types of breast cancer, so we really don’t think it would be of a benefit. And that was in 1999 that we had that conversation.

[00:02:13] Adam Walker: Okay, so quite a bit has happened from 1999 to now. I think I’ve sort of mentioned that in the intro as well. So now that we are, we’re 20 years later, tell us about the call that you got recently.

[00:02:25] Laurel Pointer: So, yeah, in 2018, at this point, my aunt, my mom’s sister, was metastatic. And so that concerned us, obviously. And so the doctor called back and he said, okay now, now I need you to get genetic testing. He said, we’ve made quite a few advancements and I think we would have some answers this time around. And he mentioned that the hospital that he was associated with was doing a clinical trial and asked if we wanted to participate.

[00:02:56] Adam Walker: Okay, well that’s great. So, so you got the call, you did the genetic testing. Now I know that it’s common for people to be intimidated by genetic testing. So could you just walk us through what is that process like? Was there a lot of paperwork involved? How long did it take? That sort of stuff.

[00:03:12] Laurel Pointer: Sure. It was actually a very simple process for us. Because the hospital was doing, you know, a major recruitment at that time for that clinical trial and they were actually calling it also a registry for information related to genetics. They called and they said, are you sure you want to do this? And I said, yes. I’m all about… if I can help advance what’s going on in the world of breast cancer so that other families don’t have to deal with what my family was going through. I’m like all about it. So I went in and it’s actually, I found it, it’s the consent form of seven pages long.

[00:03:49] Adam Walker: That’s not bad. Okay.

[00:03:50] Laurel Pointer: Not at all, and so it was seven pages just explaining, you know, what they were going to do, how they were going to do it, build out the paperwork. They took three small vials of blood, kinda like when you do your annual, your annual doctor visit every year.

[00:04:06] Adam Walker: Right.

[00:04:06] Laurel Pointer: Instead of checking for, you know, cholesterol, they were checking for different genetic mutations. And they only took three vials of blood. And I’m like, is that really all you need? You know, like, take whatever you need, take a gallon if it would help. And they’re like, no, we can do everything in just these three vials and they even got to keep some of it, you know, for further use. And out of those three vials, we got our information and our result.

[00:04:33] Adam Walker: So I’m curious, like I know people are intimidated,\. I think they’re intimidated by the process. I think they might also be a little intimidated by just like knowing, right? Because if you know, then you know, and I’m curious, like was there any hesitation on your part to know? Or did you really want to know?

[00:04:51] Laurel Pointer: No, there wasn’t any hesitation on my part, and I really did. Even if you do have a genetic mutation, it’s, you know, it’s only a small percentage of breast cancers that are related to that. And so you’re still only in that five to 10% range. And so it’s not like you find out that you have the mutation and oh my gosh, I’m going to have breast cancer and I’m going to have it just any minute. It’s still just one more risk factor in the routine. And so I have quite a few risk factors. So knowing that I have one more, that’s okay.

[00:05:25] Adam Walker: So, okay. So then I guess maybe may like, just help me frame my thinking here. So.

[00:05:30] Laurel Pointer: Sure.

[00:05:30] Adam Walker: It sounds like, like it’s almost like doing the gene testing, knowing that you have the mutation is kind of very similar to knowing that your grandmother had breast cancer or that your mother had breast cancer. Like, it’s another risk factor. Kind of recognizing your overall risk factor? Is that what you’re saying?

[00:05:47] Laurel Pointer: In some ways, yes. So, you know, with the genetic, with the CHEK2 mutation, which is the one that we have, we are more inclined not only to breast cancer but to colon cancer. And with BRCA1 and BRCA2, it’s breast cancer in ovarian cancer. So it’s just one more determination in the way of hey, these are all the places that I need to be more cognizant at and make sure that I’m doing whatever type of screening is needed so that you can catch whatever form of cancer you may get.

[00:06:20] Adam Walker: Got it.

[00:06:20] Laurel Pointer: And you can catch it early.

[00:06:22] Adam Walker: Yeah. That’s great. That’s great. Thank… that, that really helps to frame my thinking. I really appreciate that. So, I think you mentioned briefly what you found out. Can you, do you want to elaborate on that a little?

[00:06:31] Laurel Pointer: Sure. So, we do have the CHEK2 mutation, which is one that has really come on in the past, like I said, several years. You know, in 1999, they weren’t aware of that one. So that’s one of the exciting things is we are actually seeing research come to life. You know, we haven’t cured everything yet. But we’re making those steps and we’re making that progress so that we can determine all the different ways that people might get breast cancer and we can do something about it. So with CHEK2, you’re more likely to get either breast cancer or colon cancer. So that just gives us a more heightened awareness. It was a great thing because at the time we were doing the testing, my cousin, who is 10 years younger than I am, was diagnosed with breast cancer. So at this moment, she was 39 years old and had just been diagnosed the week that we were doing the genetic testing.

[00:07:23] Adam Walker: Wow.

[00:07:24] Laurel Pointer: And so my aunt, mom and I were doing that here in Dallas and Ashley was up in Oklahoma, and so I called her and I said, Hey, I know that you’re meeting with the doctors this week to determine your treatment course. Before you do that, ask them to have that genetic testing done, because that may determine what they, how they treat you. And so she immediately called her doctor, said, yes, I need to be genetically tested. Here’s what’s going on. We sent them the information that we had received from the study, and they determined that Ashley, while she has breast cancer at the age of 39, didn’t have the mutation. So just because that mutation’s in the family, it doesn’t mean that everybody has it.

[00:08:09] Adam Walker: Okay, that’s important information and very good to know. Okay, I really appreciate you sharing that. So, what were the emotions like surrounding the fact that you’ve got a positive result for this gene mutation?

[00:08:21] Laurel Pointer: For me, it was, okay, what else do I need to do? Is there some other step that I can take? You know, with so many risk factors related to breast cancer, I can’t control growing older. I can’t control being a woman. But I can control my diet, I can control my exercise, I can control my alcohol intake. So what other steps do I need to take? And with the CHEK2 mutation, they recommend that you not only get a mammogram, but that you also will alternate that with an MRI, because I can see different things with the MRI that they can with that. So it was adding in one more screening process to that. And then that way, you know, if I ever am diagnosed, hopefully it’ll, we’ll catch it so early that it’s, you know, easily treatable. The other thing was, I now had start having colonoscopies before the age of 50. I was like, hanging on, you know, like that’s not one of those things everybody wants to do.

[00:09:23] Adam Walker: Yeah.

[00:09:23] Laurel Pointer: But I now have to do colonoscopies. And rather than doing them every 10 years, like is recommended for people currently my age, I have to do them every five.

[00:09:34] Adam Walker: That’s super fun. Super fun.

[00:09:36] Laurel Pointer: Oh yeah.

[00:09:36] Adam Walker: But preventative medicine is so important and so worth it. So I’m glad that you’re doing it even though it’s absolutely no fun. So did having the information motivate you to make any other changes in your life? I mean, you mentioned exercise, you can control your exercise. You said, I think you said exercise, eating, alcohol intake in particular. So I’m curious like any specifics about that you’d like to share?

[00:09:59] Laurel Pointer: Yes. I eat on the run a lot, but I’m trying to make healthier choices when I do. Lowering the alcohol intake. We all know some days that’s probably easier than others. I really hope my mother’s not listening. You know, exercising more. I have lost quite a bit of weight because I know that that’s a factor as well. So you want to keep, you know, within a good weight range. And so there are certain things that I can control, like I said. You know, the minute I’m up for my yearly mammogram, I’ve got that scheduled like clockwork to make sure that’s happening.

[00:10:35] Adam Walker: Yeah, I mean that, that’s super important. Like go ahead and schedule that way ahead of time. Put it on the calendar. You know you’re doing it, you know, you have to do it. So important to just get it on the books. Right.

[00:10:44] Laurel Pointer: Right.

[00:10:45] Adam Walker: Yeah, that’s great. That’s great. All right, last question. What is your advice for our listeners about the importance of knowing their family history and discussing any concerns with their doctor?

[00:10:56] Laurel Pointer: I think it’s very important to know your family history and to know your risk factors in general. But, know them. Take action on what you can, but don’t obsess about them. That’s a conversation, you know, just last night I was having with my husband knowing that we were going to record today. You know, he said, but he goes, you’re aware but you don’t worry. And I’m like, because I can’t control it. You know, I have all of these different risk factors, you know, but that doesn’t guarantee it. And so, even because you have risk factors, it doesn’t guarantee that you’re going to get it. So don’t obsess. Don’t worry. Enjoy your life. Live your life. Every once in a while, yeah, you know, when it comes to going out with friends and having that, you know, margarita or that glass of wine, that’s okay. You don’t have to cut things out completely and you certainly don’t have to just obsess about things. But just be aware and control the things that you can. Accept the things that you can’t. And just be faithful about being screened. And then once you are, you know, for me I’m like, okay, I’ve done what I can do. I know that I have a, you know, either a year or six months until the next time I need to be screened and just go from there.

[00:12:16] Adam Walker: Yeah. So.

[00:12:16] Laurel Pointer: And talk about that with your doctor. And let them, you know, have the conversation with you about what you can control and what you can’t. You know, and even my doctor was, I said, do I need to give up alcohol completely? And he is like, why would you do that? And so. Yeah, I’m like, okay. But you know, he said, but you can control the weight and let’s work on that. And we did. And 45 pounds later, here I am. And so, and then getting out and exercising. So.

[00:12:49] Adam Walker: Yeah. So important. So important. And I love what you said there, that recognize what you can control and focus on those things and everything else. You just have to wait. Right. And there’s nothing to worry about until there’s something to worry about and worrying before there’s something to worry about doesn’t do anybody any good. Right. So.

[00:13:06] Laurel Pointer: Right.

[00:13:06] Adam Walker: I love that. I love that perspective. Thank you for sharing that perspective. Thank you for sharing about your own journey and your family history. Laurel, really appreciate you coming on the show today.

[00:13:16] Laurel Pointer: My pleasure.

[00:13:21] Adam Walker: Thanks for listening to Real Pink, a weekly podcast by Susan G Komen. For more episodes, visit RealPink.com. For more on breast cancer, visit Komen.org. Make sure to check out at Susan G Komen on social media. I’m your host, Adam, you can find me on Twitter @AJWalker or on my blog, AdamJWalker.com.