Jackie Smiley on Genetic Testing: the amazing medical contribution often overlooked

Finding out if you have a genetic mutation can be lifesaving for patients, their families and future generations. Genetic testing plays a vital role in cancer prevention, early detection, and treatment. So much can be done once your physician knows if a mutation exists. 

Jackie Smiley, nurse practitioner and high-risk genetics coordinator for Hurley Medical Center in Flint, Michigan, was a guest on The Breast of Everything, sharing her knowledge about genetic testing, and her own personal story. She is a 13-year breast cancer survivor with a BRCA gene mutation.

Jackie knows, not only from counseling patients, but from her own experience, why genetic testing can be a lifesaving measure people should not overlook. 

Jackie’s family was immersed with cancer – five aunts, many uncles, a grandmother and other relatives. When she learned her father had a cancerous tumor, she made the decision to be tested and get a mammogram. She was not yet 40, the age when doctors recommend women obtain their first mammogram. They found two masses that had spread to her lymph nodes, and genetic tests revealed she was carrying the BRCA gene mutation. Jackie was lucky. She was the first woman in her family to survive cancer. 

When patients ask her, “Why would I want to know if I have a genetic mutation if there is nothing you can do about it?” Jackie reminds them that there is so much they can do. There are many prevention options available today. Patients can reduce their risk of developing cancer by up to 90 percent!

“How do I know if I should get tested?” is another question Jackie often is asked. In general, if patients have a family history of breast or ovarian cancer, or if there is a known BRCA1, BRCA 2 or other inherited mutation in the family, testing is recommended. A genetic counselor can meet with you to determine if you would benefit from genetic testing. Anyone can seek genetic counseling to learn if the testing makes sense for them. You do not have to have a family history of cancer to be tested. 

Cancer can run in families even if there is not a family history or an inherited mutation, she points out. And even if an abnormal gene is found and is linked to a higher breast cancer risk, not every person in the family will inherit the abnormal gene. A genetic counselor can provide advice on who should be tested. 

A genetic counselor also will review the test results with you and explain what a positive test means. If you have a positive test result, this means you have a genetic mutation and you can begin to take proactive steps to reduce your risk of getting cancer. Your parents, children, sisters and brothers each have a 50 percent chance of having the same mutation.

A negative test result means no mutation was found, but this does not mean you will not get cancer. Your genetic counselor will discuss these findings, too. 

Jackie also reminds women that paternal family history does matter. You can get breast cancer from either side of your family. Men pass along the mutations, too. You have a 50/50 chance of inheriting the mutation from your father’s side of the family.

Most insurances cover the cost of genetic testing. Tests usually include more than 40 gene panels (a gene panel is a test that analyzes multiple genes at once for cancer-associated mutations).

Jackie also notes that over-the-counter genetic testing kits only test for a few different variants. Exercise caution when purchasing these.

Don’t stick your head in the sand when it comes to learning your risk for cancer, she advises. It shouldn’t be a question of “if I get tested,” but “when should I get tested?” 

Transcript

Unknown Speaker  0:01  
Welcome to the breast of everything podcast your trusted resource for breast health information support and encouragement. Your host today is Dr. Lindsay gold of comprehensive breast care. Welcome.

Unknown Speaker  0:16  
Welcome to the breast of everything podcast. I'm Dr. Lindsay gold of comprehensive breast care. I'm so glad you could join us today. I will be talking with Jackie smiley, a nurse practitioner and high risk genetics coordinator for Hurley Hospital in Flint, Michigan. Genetic testing plays such a vital role in current cancer prevention, early detection, and treatment. finding out if you have a genetic mutation can not only be life saving, and life changing not only for patients, but also for future generations of family members. Genetic testing is truly an amazing medical contribution, and one that is easily accessible and available to almost anyone. Once we as physicians learn if mutation exists, there is so much more we can do to help our patients. And during this podcast, jack is going to help us dispel the taboo associated with genetic testing and share some insights and information to help you gain a better understanding of why genetic testing is so important. Jackie has been a registered nurse for almost 30 years and a nurse practitioner for more than 20 years, dedicating most of her career to women's health. Currently she works with Hurley, ob gyn healthcare associates as a nurse practitioner and high risk genetics coordinator for Hurley hospital. She provides her genetic expertise as a member of the tumor board and cancer committee. Jackie earned her bachelor's degree and master's degree from Wayne State University and completed the intensive cancer genetics program through the city of hope in Los Angeles, California. She knows from her own personal story, why genetic testing is so important. Jackie is a 13 year breast cancer survivor and has a BRCA mutation. Jackie, I'm so happy to have you join me today to talk about genetic testing and share your expertise and personal experience with our listeners. Welcome.

Unknown Speaker  2:32  
Thank you Dr. Golem. I'm glad to be here.

Unknown Speaker  2:36  
Well, we have a lot to talk about in a short period of time. So we'll try and hit all of the highlights. So I've been in practice 15 years and I have seen unbelievable advances. If you've done this longer than me, then the changes in your career have also been notable. I mean, when I started, nobody could get genetic testing. And now everybody gets it in the breast cancer world. What have you noticed in over your career time?

Unknown Speaker  3:08  
Oh, yeah, it has changed so much. I started doing genetic testing probably 2006 or seven at the Genesee County Health Department. And actually most people could not get testing at that time, except I was using patient assistant programs and signing people up for testing. There was only one lab that was offering testing. We tested for two genes just BRCA one and BRCA two. Nowadays, almost every insurance plan covers testing. And I can offer patients gene panels, you know, most of the time 40 up to 80 gene sometimes. So it has changed. There are so many labs now that I'm using I use several labs. It really is based on insurance coverage sometimes, but it's it's available to almost everyone now.

Unknown Speaker  4:00  
Yes, if you want to tell us a little bit about your own experience and how it impacted you. I think the listeners would love to hear that.

Unknown Speaker  4:09  
Well, you know, as I said, I've been doing this testing for a long time. But I didn't even realize that my own family history warranted testing in my own family. There were always cancers in my family that I was aware of, but I guess I didn't pay much attention to it. It wasn't until I found a mass on my father's chest wall right there on his breast that I realized that there could be a gene mutation in our family. We were having tea one night and I was just standing there talking to him and I reached over because his breasts looked unusual. And when I felt that mass almost instantly I knew it was a cancerous tumor, and that all the cancer in our family was probably related to gene testing. He was tested and was found to have a BRC To mutation, he did have breast cancer at that time. And once he was tested, I went in to get my own testing. And I had envision that if I was going to be positive, then I was going to have maybe some prophylactic surgeries of prophylactic mastectomy, and hopefully prevent cancer. But I hadn't turned 40 yet. So I hadn't had a mammogram, I went in for testing. And on my first imaging test, I already had breast cancer, I had two masses, and it had already spread to my lymph nodes. At a time I was tested, it was it was there. And unfortunately, I was a little late and getting my testing done. But my younger sister got tested. She was 36 at the time, and her breast testing was negative. But she did have fallopian tube cancer, both sides at age 36. So she was able to get tested, get surgery, and she is cancer free, as well as myself and my Oh, that's awful. Yeah,

Unknown Speaker  6:04  
yeah, there's, there's lots and lots of stories about that. So what would you say to somebody who says, because I hear this in the office? Well, why would I just want to know, if something bad's gonna happen to me, I mean, I can't do anything about it.

Unknown Speaker  6:23  
Well, there's so much we can do, boy, God knows that you have a mutation. I mean, we could prevent cancer, especially cancer that is hard to treat, we could prevent an ovarian cancer, which is many times fatal. You know, we could, if we don't prevent a cancer, we can catch it early at the stage that it's treatable. And there's so many different prevention options, there's options just to take medication, just to take a medication that could reduce your breast cancer risk by up to 50%. You could take a birth control pill and reduce your risk for ovarian cancer by about 40%. If you didn't want to do preventative surgeries, and then when you do go into the preventative surgeries to prevent cancer, if you have a mutation, you're looking at almost a 90% risk reduction for breast cancer. And the same with ovarian cancer. Yet to mention what you can do for your sisters and brothers and other family members. I mean for generations to come. I gotta tell you, I'm the first woman in the family who has survived this cancer. I've lost Christ, aunts, my grandmother, a great aunt, I've lost several uncles. So I'm here talking to you right now, because I found out that I had a bracket gene mutation, even though I had developed cancer at that time, I was still able to catch it early enough

Unknown Speaker  7:50  
and be counseled as to, you know, you're the the best approach from a treatment perspective to maximize your, you know, chances of survival, reduce the risk of a new cancer, that type of thing. So, as a genetic counselor, what exactly is your role who who should really seek out genetic counseling?

Unknown Speaker  8:17  
Well, I mean, my preference would be that almost everybody can have counseling. And I know that's not realistic. Right now, we don't have enough counselors, right. I do believe that every woman who develops breast cancer should be offered counseling. Again, we need more counselors probably to make that happen. But genetic counseling is being offered at more practices. Generally, you know, we follow nccn guidelines, there's guidelines that tell us who should get testing. And for the most part, it's anyone who knows that there's a gene mutation in the family. If you know there's a mutation in the family, and it's a blood relative, you should come in for testing. Anyone with a personal history of cancer, especially young cancers, if there's families where you see trends of people with similar cancers, they should be tested. There's a whole list of things. It's important, any male with breast cancer should be tested. Anybody at all with ovarian cancer or pancreatic cancer should get tested. Now, if we see a man with prostate cancer that's metastasized or very aggressive, they should get testing now. So there's even if you were in a family and you did not know your family history, if you had less than two sort of female paternal relatives, you might qualify for testing. So many people don't know if they qualify. It's okay to come in. Just get counseled. Let's draw a family tree. We'll look at a pedigree we'll see if you qualify. And if you qualify, your insurance plan will cover it. Now if you don't qualify, we can still offer testing. It may be on cash. Pay But it's affordable now could be under $250.

Unknown Speaker  10:03  
Right? Right. Which just for reference, for our listeners, $250 is a lot of money. However, a mere, you know, six years ago, it was, you know, $4,000 are more. So relatively speaking, it's a lot more affordable to a lot more people, you know, compared to before when it was just not even possible for, you know, almost anybody.

Unknown Speaker  10:30  
Yeah, absolutely. And I tell you, they even offered testing now over the counter. And I would really caution people to get kids over the counter, because many times they're getting a test kit, but they're not testing enough genes or the or the appropriate genes. Some people think they have BRCA testing from some of these over the counter kits, and they're only testing a few different variants. So I would really seek counseling with it, but someone who is savvy in genetics,

Unknown Speaker  11:02  
right, right. Absolutely. So, um, how do you counsel women who test positive as to how they need to handle, you know, the information for the rest of their family members.

Unknown Speaker  11:23  
So, you know, when they come in, we do two types of counseling sessions. One is the pretest, we go through the family history, I look at the different cancers, I decide what panel to order, and I order a panel that will encompass all the different cancers in their family, then they come back for a post test session. If they have a positive mutation, I'll be able to look at which gene it is. And there are several guidelines that I can follow that tells me exactly what they need to do. Okay. For instance, if it's abraca, gene mutation, generally, we start surveillance at age 25. With breast exams, we will start MRIs and mammograms annually, you know, we will talk to him about surgical options, talk to them about ovarian cancer screening, and other screenings, when it comes to informing their family members, I look at that family tree and I go right into, you know, who you need to tell. And every blood relative on the side of the family, where if we can isolate where they inherited the gene mutation, I think would need to know.

Unknown Speaker  12:32  
Right? Yeah. You know, every family has its own dynamics, right. And so, it's always been amazing to me. Sometimes, if you have, let's say, you know, four sisters and a family. Two will be, you know, really gung ho about testing, they want to know, they want to do everything, the other two, you know, head in the sand. And sometimes it's, it's hard to convince those who maybe aren't as willing to test because, again, it affects, you know, everybody if they do or they don't test, it can be tricky. So what if somebody is adopted, you know, and does not know, their family history? How do we counsel these ladies

Unknown Speaker  13:23  
or gentlemen, if they're adopted, they don't know their family history, they would qualify for testing, okay. So they would definitely get tested. And then we're looking at their children, the risk of them passing it on if they had children themselves is 50% for each child. So I've seen a lot of families where they're able to talk to each other pass on the information. It's a personal choice, whether they want to get tested or not. In my family, my dad came from 10, there were 10 siblings, and almost nobody had testing after we informed them. And unfortunately, you know, my uncle developed prostate cancer A few years later, and I can't help but think had he had the testing, maybe we could have caught it earlier.

Unknown Speaker  14:08  
Mm hmm. So how about families? Well, people with what we would call a limited family structure, right? You only have, you know, one child in three generations. And you know, they're all males, except, you know, the, your patient, the index member, how to that sort of a tricky situation as well.

Unknown Speaker  14:34  
It is tricky. And many times, I mean, we know that men have these gene mutations, and they pass them down, at the same rate that women have the mutation, so it's always a 5050 chance you can get the mutation from your father just as you can from your mother. Now, when we see men who have these gene mutations many times it's a silent threat, because their risk of developing a cancer is very low. They have a 6% chance of getting breast cancer, they don't have a very high chance of getting prostate cancer. So many times these men have the gene mutation, they carry it their whole lives, they pass it on, and we see the cancer in their daughters. So it's so important, even when we have someone who test positive permutation that their brothers get tested, their uncles get tested is just that the females in the family that get testing, and we actually need to educate providers to when they're counseling patients that they need to talk about the paternal side of the family as well as the maternal side.

Unknown Speaker  15:35  
Yes, absolutely. Are there any specific messages that you would want to share with our listeners about genetic testing? I don't want to forget to ask,

Unknown Speaker  15:50  
Well, I just want genetic testing to be sort of the norm, I don't want it to be this sort of taboo thing that only a few people know about, and want everyone to ask about it. I think family history should be something that everyone's talking to each other about it enough. Sort of with the family secrets, we all should start talking about our family history, started asking about it and tell your provider, you know, what your family history is? I just, I wish it was more commonplace. And I think the more people that talk about it, the better it will be.

Unknown Speaker  16:31  
Yes. And I do agree educating providers, right, definitely primary care providers, you know, physician extenders, anybody who's going to come into, you know, have a connection with the patient, and hopefully take a really good family history and say, you know, what, that's, that sounds a little suspect, you know, maybe, maybe we can set you up to see the genetic counselor. Because it's just amazing to me, how many times that I will see somebody, you know, with a new cancer diagnosis, and then I'm the one, you know, sending them for testing. And then we find out there's a mutation when, like you said, even in your own family, there were multiple people in multiple generations. Why are we just, you know, why are we just doing this? Now, when it could have been? Before I personally would like, genetic testing for, like, all cancer diagnoses? At some point in time, I would hope that we could get there one day, I know, we're not there. But that would be fantastic. Because I think we would find out a lot more information. You know.

Unknown Speaker  17:55  
And now that we're, we're looking at tumors now more, we're starting to find germline or hereditary mutations in the tumor profiles. So in some cases, when we're looking at tumors, it's pointing to the fact that there could be a hereditary component to the cancer.

Unknown Speaker  18:13  
Correct. Right. So yeah, it's it's not always understood that, you know, we as humans have DNA, right. And tumors, they have their own DNA, that sometimes is like, are sometimes not so. Um, yeah. So yes, we we test all kinds of DNA now. Now, I think, you know, when when ladies do have a family history, that's suspicious, and then you counsel them and test, but all the testing comes back negative. That's also a tricky group to try and counsel.

Unknown Speaker  18:55  
It is. Yeah. We know that most cancer is spontaneous, it's random, you know, there's only about 15% that are actually hereditary. So you know, that's a tough one, because I can't give them an answer as to why they developed cancer. I can't tell them that there isn't a mutation in the family, but I can tell them that they didn't test positive form. Right,

Unknown Speaker  19:23  
which hopefully is a little bit relieving to them as it relates to other family members, maybe their children, maybe their siblings or their parents. Because what I will frequently say to them, is kind of like what you said, I know you want to reason as to why other than the fact that you just have breasts and you're alive and nothing else bad has happened to you today. You know, maybe we'll find a reason in the future. But the good news is that as far as we can tell today, your loved one Aren't at any substantially increased risk compared to general population? So not having a genetic mutation does not mean you won't get cancer, it just means your risk is that of the average individual.

Unknown Speaker  20:17  
That's right. That sense.

Unknown Speaker  20:18  
Yeah, sense. So

Unknown Speaker  20:19  
if you have a mutation, it means you have a higher risk for cancer, it doesn't mean you're going to get it just means you have. And if I test a family member, where we know there's a mutation that exists, and their test is negative, just what you said they go, they did not get that mutation we know exists. So they are a true negative, and their risk is the same as the general population. So so Oh, man, they're so relieved when they found out that they didn't get that mutation in the family.

Unknown Speaker  20:51  
Yes.

Unknown Speaker  20:52  
But many of them will go on their whole lives afraid to test thinking that maybe they have the mutation, only to find out that they don't have it. And they could have known that years prior.

Unknown Speaker  21:05  
Yeah, I've said that to ladies a number of times, you know, just just living like waiting for the other shoe to drop. That's, that's a terrible feeling. Nobody should have to live like that. And it's heartbreaking to me, when women are diagnosed, and they say, Well, you know what, I mean, I was expecting this, it wasn't a matter of, if it was just a matter of when, and I think, oh, my goodness, that, how heartbreaking that you would have to live every day with those kind of thoughts. It's just, um, you know, we can do something about it. Yeah,

Unknown Speaker  21:44  
we can there, there are so many options for preventing cancer now. And for catching it early. I, I sort of view it as a positive thing for myself. I at least know what my risk is. I know what cancers I'm at a higher risk for I can go in search, you know, with surveillance and look for cancers and find them early and treat them. So I feel like sometimes I'm at an advantage versus people who don't know.

Unknown Speaker  22:12  
Yep, knowledge is power, for sure. So are there any resources or websites that you recommend if people want to learn more about genetic testing?

Unknown Speaker  22:24  
Well, I can tell you, a site that I used. And I tell all my patients use is force. It's facing our risk of cancer empowered. And it's www dot facing our risk.org. And this site has so much information, there are message boards, and there's so much support you can get from these sites. There's also bright pink, that's an organization and that organization is tailored to cancer prevention, breast and ovarian cancer prevention. And it's more for the younger population. They have pink pals that you can hook up with people who have been through the same thing you're going through and sort of guide you through the journey.

Unknown Speaker  23:10  
Oh, that's fantastic. That's really fantastic. So thank you, Jackie, for providing all of our listeners with so much great information and resources about genetic testing. I really appreciate it.

Unknown Speaker  23:27  
Thank you. Thank you so much.

Unknown Speaker  23:29  
No problems. So thank you everybody for listening to the breast of everything. I am Dr. Lindsay gold of comprehensive breast care. We want to hear from you. If you have a topic you would like us to talk about. We welcome your suggestions. You can send them to comp breast care. com. That's COMPVREAST ca r e.com. Thank you so much. Until next time, be well.

Unknown Speaker  24:02  
You've been listening to the breast of everything podcast with your host and board certified breast surgeon, Dr. Lindsay gold of comprehensive breast care. If you have a subject you would like the surgeons to discuss, please email your suggestions online at comp breast care. com. That's compveastcare.com the doctors want to hear from you. The views thoughts and opinions shared in this podcast are intended for general education and informational purposes only and should not be substituted for medical advice, treatment or care from your physician or healthcare provider. Always consult your health care provider first.

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