[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.
[00:00:17] Did you know that in some families with a history of prostate cancer, the women may have an increased risk of breast cancer? People with one or more first degree relatives, father or brother who have had prostate cancer may have an increased risk of breast cancer, especially if the prostate cancer was diagnosed at a young age.
[00:00:36] This also works in reverse with a family history of breast cancer. This increased risk is likely due to inherited gene mutations. We’re lucky to be joined today by genetic testing expert Dr. Tuya Pal. Dr. Pal is here to discuss the importance of early detection and to decode some common questions surrounding genetic testing.
[00:00:58] Dr. Pal, welcome to the show. Well, thank you for having me. Well, I’m glad to get to chat with you this morning. I think genetic testing’s important and the more we can talk about it, the more we can debunk myths, the better. So, but let’s start with you. How did you become interested in genetic testing as a specialty?
[00:01:17] Dr. Tuya Pal: So, it all started in high school during my first genetics class, which is surprising because I love genetics from there. I love the punnet squares, which many people don’t, and that ranks through true through my med school applications, where in my personal essay, when they said, where do you see yourself going?
[00:01:40] It was genetic. So again, and then during residency, I loved oncology, so I thought about oncology as a specialty, but the way to mix it kind of together was cancer genetics. So I actually worked out really well, aligned with my interests.
[00:01:57] Adam Walker: I like so many questions there. Like first of all, you’re learning genetics in high school.
[00:02:02] Like I think you must have been way ahead of wherever I was in high school because that’s pretty amazing first, but then you’re like one of those like rare people that sort of found a passion in high school. That’s pretty amazing.
[00:02:14] Dr. Tuya Pal: Yeah. Again, not that I knew that’s where I was going to end up. But it is kind of cool because I can go back to my med school essay.
[00:02:22] Yeah. You can see that genetics was where I wanted to be at that time, but again, things changed through med school, but they didn’t for me.
[00:02:30] Adam Walker: Wow that’s so cool. I’m very happy for you that you found that passion early. Well, I, so I know, you know, Susan G Komen J&J have joined forces to educate on inherited disease and connections between prostate, breast cancer.
[00:02:46] So if someone has either of these cancers in their immediate families, why is it so important to be tested and to be tested early?
[00:02:55] Dr. Tuya Pal: So testing, the way I think about testing is there’s three potential implications to testing, right? So the first one is if you have a cancer diagnosis, at this point, we have targeted treatments.
[00:03:08] So we have treatments that could inform what treatment you receive for you to have the best outcomes for yourself. Number two, once someone is identified to have hereditary cancer, really, you know, depending on the gene that was identified to have a mutation in, there’s a specific pattern of cancers.
[00:03:32] And the whole reason for knowing, well, what cancers are you at risk for is because you can then target management or cancer risk management. So what screening do you become eligible for? What enhanced screening, what surgeries, like preventive surgeries might you want to consider? So having, knowing this information enables someone to be proactive
[00:03:56] about their health to be able to lower the risk of future cancers or to detect them early. And both of those things would greatly improve outcomes. And then the third thing is family communication, right? Like, so we don’t think of individuals as our unit of care. It’s really families that are the unit of care.
[00:04:15] So once you identify someone, it’s super important to help them spread this information across families so more people can benefit from this information. And again, when you think about it more broadly at this point, we if we’re thinking about the BRCA1 and BRCA2 genes, those were identified
[00:04:35] more than 30 years ago. Yeah. And we have only identified maybe 10 to 20% of the adult population with these genes. And there have been kind of analyses that have been done to show, well say how, what are different strategies to do better? And one of those strategies is make like helping with family communication and testing, because I think we could get to a lot more of the population because you already have high risk individuals and high risk families identified.
[00:05:05] So if you spread that information, that would be another way of getting past this 20% of people that have been identified today, which is, you know, if we think about it 30 years and only 20%, it’s not good.
[00:05:19] Adam Walker: Well, and there’s a long way to go. Now you said something in there that I thought was striking, and I forget the way you phrased it, but you said essentially you were saying that we look at, it’s not just individuals that we look at to care for, but we’re looking to care for family units because family units share those common, you know, traits around ca and I’ve never thought of it that way and I wonder like, could you expand a little bit more on that and I wonder also how that affects how individuals with cancer
[00:05:50] should think about their own diagnosis because it’s not just them it actually has an impact on a broader family unit that they need to then be aware of. Yes. No, absolutely. So if we’re thinking about general inheritance backing up a little bit with these inherited cancer genes.
[00:06:10] Dr. Tuya Pal: Usually it’s either inherited from the mom or the dad. So it’s 50 50 chance. So genes come in pairs. It’s basically if you have one member of the pair that had a mutation in it, you have the predisposition to cancer. So that predisposition can come from mom and or dad because again, like I said, genes come in pairs.
[00:06:31] When you have a child, you’re sharing one of your genes, right? Not both. So one of the genes come from each parent. So that being said you share 50% of your gene with your mom, 50% of your genes with your dad. If parents get tested, you kind of narrow down, okay, it’s coming from the father’s side or it’s coming from the mother’s side.
[00:06:51] And then with your siblings, with your full brothers and sisters, you share 50% of your genes. And then with your children, you share 50% of your genes. So you see how that expands out really quickly with your aunts and uncles, you share 25% of your genes with your cousins you share 12.5% of your genes. So again, if you expand it out, if you know which side of the family, it makes it much easier to figure out where you should focus.
[00:07:17] But that’s why I’m saying families are the unit of care. And you know, for many of us in genetics, the saddest thing is when someone comes to us with metastatic cancer and their family member knew about the mutation. Yeah. But didn’t think to share it with them. And again, that happens more frequently. You think, and I don’t think that it’s because a family member wanted a poor outcome.
[00:07:43] Their yeah. They don’t think about it for family. It’s because they didn’t know or they didn’t realize, or, you know, many times information that’s easy for us to explain, even if someone understands it, is not going to easy for them to explain to their family member and for the family member to act on it.
[00:08:00] And again, there’s a lot of logistics to getting tested, but that’s where I think there are a lot of interventions or a lot of strategies that are available to families to be able to help spread the information. Yeah. To help explain the information, et cetera, which I think is critical to people getting tested.
[00:08:21] Adam Walker: Wow. Yeah, that’s, thank you. That’s really, I mean, just that, that shift in perspective, I think could have a huge impact on people and I really appreciate you elaborating on that. Let’s talk about testing modalities for a minute. Are there different ways to have genetic testing done?
[00:08:39] Dr. Tuya Pal: So I would say the typical ways are either a blood test or a saliva test. And we’re talking really about germline testing. So genes that you were born with. And when people think about genetic testing, there’s a lot of confusion out there, right? Like we call a lot of things genetic testing, if it’s tumor testing, that’s also called.
[00:09:03] Genetic testing, but tumors are not your, the DNA you were born with, they’re a mixture of the DNA you were born with and the DNA that evolved to lead to uncontrolled cell growth. because if you think about cancer, what cancer is the cells are growing out of control. So that’s where the tumor testing is different
[00:09:26] from the germline testing. And then the other thing I would say is there are, like all genetic testing is not the same, so you need to go to a medical professional to get the genetic testing, even if it’s for inherited cancer, people sometimes think about 23 and Me and they think, oh, well I’ve already had BRCA1 and BRCA2 testing and that is not true.
[00:09:46] So if you think of the BRCA1 and BRCA2 genes, and you think of each of these genes as a big set of encyclopedias, there are thousands of spelling mistakes in those encyclopedias, right? With genetic testing through an accredited laboratory that we would use, you would look systematically at as many mut, many mutations as you could, and that encompasses thousands of mutations.
[00:10:13] And you know, we’re probably getting at 90 to 95% of the mutations when you go through 23 and Me, it’s a select handful of mutations. So you’re not getting complete genetic testing. Just because you test negative does not mean that it is truly a negative test. So that is not enough. Generally when it’s positive, it is a positive test.
[00:10:35] But again, that’s not a hundred percent you want to go to an accredited lab. And then like I said before, the tumor testing that is not testing for hereditary cancer. There are ways we can kind of get a hint that maybe hereditary cancer is present, but again, you need to have real inherited cancer testing in order to figure that out definitively.
[00:10:58] Adam Walker: Yeah. I’m glad you made the differentiation between like a 23 and Me or any of those in like real, I, real lab more what did you call ’em? Lab testing. You called ’em something. So, you know, accredited.
[00:11:13] Accredited, that’s the word. Thank. Yeah, sorry. Yeah, but finish your thought. Yeah I appreciate you sharing that di distinction.
[00:11:20] Dr. Tuya Pal: Yeah, no, and it’s important to see that again, there are different accreditations that even 23 and Me has, but at the end of the day, I still think that like, again, with many of these labs, I’m not going to say 23 and Me, but there are other labs out there where they do full genome sequencing, right? Where they’re sequencing or full exome sequencing, where they’re sequencing your entire DNA.
[00:11:44] And we’ve seen test results like this and they are not accurate. They are incorrect, like they are reporting out mutations in multiple cancer genes. The rarity of that, I can’t even tell you how rare that would be. That would be like. I don’t even know that anyone in the world would have mutations in five separate cancer genes, and this is what they are routinely reporting.
[00:12:06] So that’s where I would be very concerned with the direct to consumer testing opportunities that patients have right now, because that could influence wrong care.
[00:12:19] Adam Walker: Could make you feel more safe than you are, right? Or, well, not even, or the other way round.
[00:12:23] Dr. Tuya Pal: Well make you feel more unsafe than you’re okay.
[00:12:26] Adam Walker: Yeah. Yeah.
[00:12:26] Dr. Tuya Pal: Is the issue here. At the end of the day, some of the te, like some of these procedures that are options once you have inherited cancer are irreversible. So if you’re doing a irreversible procedure, like a double mastectomy or having your ovaries removed based on these kinds of tests.
[00:12:47] That’s just wrong care and that’s not going to improve your outcomes. That’s actually going to make your outcomes worse. So again, accredited reputable laboratories, and there are multiple in the US but you have to go to someone that’s knowledgeable to be able to access that kind of care or to know
[00:13:06] what those are.
[00:13:08] Adam Walker: Okay. And you may have already mentioned this, because you mentioned the difference between germline testing and tumor testing. Is tumor testing, somatic testing? Is that what that is it? Okay.
[00:13:18] Dr. Tuya Pal: It’s exactly somatic testing. Okay. Okay. Somatic testing just means cells that you weren’t necessarily born with.
[00:13:27] Adam Walker: Got it.
[00:13:28] Dr. Tuya Pal: So somatic means tissue. But yes.
[00:13:33] Adam Walker: Versus journalizing being what you weren’t born, born with and that’s what sort of affects brought a family. Exactly. Okay. Got it. Okay. So, so once you do genetic testing, like is there ever a need for a retest? And if so, why would you need to ever retest or do anything else like that?
[00:13:50] Dr. Tuya Pal: So yes, I do think there are needs to retest, but it really depends on the personal and family history. Okay. So just to give you an example. You know, when the BRCA1 and BRCA2 genes were first discovered, testing was really limited to just the sequencing. So meaning reading through the inci entire side of encyclopedias, looking for spelling mistakes and even there sometimes it was limited to specific areas of the gene, so it was much more limited testing.
[00:14:24] Beyond that, like there ha has been additional testing where you can look at rearrange paragraphs. So that’s not a spelling mistake that’s rearrangements within the gene that you’re not going to pick up with sequencing. So over time, like all that to say, over time there’s additional technology that becomes available to us to detect mutations.
[00:14:48] So especially in people that are negative. If you have a strong family history, there are reasons to consider retesting periodically, and you just need to speak to someone that’s knowledgeable. Yeah. In our clinic, we see people for consideration of retesting and sometimes we’ll say, yeah, it makes sense.
[00:15:07] Other times we’ll say, Hey, there’s not that much that’s been identified for you, for it to be worth you doing the retesting, because sometimes insurance will not cover it, right?
[00:15:17] Beyond that, what I would say is there are new genes that are being identified, right? So even in that regard, there might be additional testing that wasn’t available when you first got tested.
[00:15:29] So yes, I do think retesting is a consideration. And the third thing I’ll say is we are getting better with testing and refining, like just beyond the gene mutations. The gene mutations, the way I think of it live on your genetic background, right? And your genetic background, meaning, you know, other DNA differences can either raise or lower certain risks.
[00:15:55] And we are getting better at measuring that as well. So even if you have a gene mutation, I think that down the road we are going to be able to further refine Yeah, risks. To more personalize them.
[00:16:09] Adam Walker: So, just to make, I just want to make sure I understand. So I think earlier you, you mentioned that we’ve only identified a small portion of all of the mutations, right?
[00:16:18] And then you also mentioned that tests are getting better to identify more of the mutations over time, more of the spelling errors or flip paragraphs or whatever over time. And therefore, if I got, let’s say I got gene testing 10 years ago, it’s possible that the gene testing 10 years from now would be significantly better.
[00:16:36] And would find things that the first test didn’t find, because there’s more to test for. There’s more, they know more the technology is better. Is that essentially what you’re saying? Kind of Kinda. Okay.
[00:16:46] Dr. Tuya Pal: I’m glad you clarified. Yeah, so the one thing I would say is even when we were first testing, I think for many of the genes where we were capturing most of the mutations, okay. So I’ll just give you rough numbers. Maybe our detection rate was 80% before.
[00:17:02] Adam Walker: Okay. But then it’s 90% now and maybe it, I see 95%. So we were still capturing, it’s pretty good, but not a of the mutations. So yeah, it’s pretty good. But, and that’s why I prefaced it with saying if it’s from a, like if you are from a high risk family, right?
[00:17:18] Dr. Tuya Pal: Because if you are not from a high risk family and you got a negative test, probably there’s not inherited cancer Present in your family. So that’s what I would say, like for high risk families and even in our clinic, we will tell them, Hey, follow up with us every few years. There could be new strategies right?
[00:17:38] To test for, to figure out, well, what’s going on in your family.
[00:17:42] Adam Walker: Okay. What do you wish more patients understood about the benefits and limitations of genetic testing?
[00:17:52] Dr. Tuya Pal: So, few things with the benefits. I always say testing, like increasing testing is really not going to improve outcomes because testing is a segue to getting refined care.
[00:18:06] So care is what is going to refer, like, refine. Improve outcomes. So it’s not just about increasing awareness about testing and getting people tested, but it’s to follow through on that to make sure they’re getting the right care. That they know what the right care is. They make decisions aligned with their own preferences, but they’re getting the right information.
[00:18:29] So genetic testing is not going to improve outcomes. It’s actually the care afterwards. And you know, I think it is upon all of us to make sure that these patients, once they are tested are getting access to care. We know that there are care differences across insurance. You know, if you have insurance, if you don’t have insurance, what type of insurance do you have?
[00:18:49] So again, these are high risk individuals. We need to ensure that they get the care that they need. To stay healthy. What I would also say is some people, and I’ve seen this in patients that I’ve tested, either through clinic or research where they already have a cancer diagnosis, and they’re like, okay, so what?
[00:19:10] Why do I need testing? I already have cancer, and it’s for the reasons that I already mentioned. So yes, for the family, you can define your treatment, but the family implications, but even your own implications. Like say you have a breast cancer diagnosis and you’re identified to have a BRCA1 mutation.
[00:19:27] I’m just giving an example. Well, that puts you at super high risk for ovarian cancer. So even after your breast cancer is treated slash cured. You are still at very high risk for ovarian cancer. So yes, the testing has additional implications to someone like that, and I would argue that that’s the case in many genes
[00:19:50] that we test for.
[00:19:51] Adam Walker: Yeah, I like that. That’s helpful and that’s helpful, you know, clarification. Now I know you have a Komen research grant to provide education and genetic testing for Black women with breast cancer. Can you tell us about why genetic testing is so important for those who have already been diagnosed with cancer and their families, which you’ve already kind of alluded to as well.
[00:20:12] But especially those from historically. From historically minoritized or underserved communities?
[00:20:18] Dr. Tuya Pal: Yeah, no, certainly. Now the thing is genetic testing is important across all populations. So there’s not just one population that should get tested. I think it should be all populations. There are differences in the rates of positivity in some populations, and we call that a founder effect.
[00:20:37] So enrichment over generations of specific mutations. And the one we typically think of in the United States is the Ashkenazi Jewish population, right? They have a higher. Of having a BRCA1 or BRCA2 mutation. But that being said, when we look at who has been tested in the population in the us, there are clear differences across populations.
[00:21:04] So white populations have a higher rate of testing compared to black populations, compared to Hispanic populations, even though everyone is at risk, right? For having the mutation. So what that mean? And beyond that, there have been clinical trials. Like I mentioned before, there are targeted treatments for certain
[00:21:26] types of cancer related to inherited cancers like BRCA1 and BRCA2 associated breast cancers and PARP inhibitors. So right. Being diagnosed with breast cancer, knowing that you have a BRCA1 or 2 mutation could make you eligible for certain treatments. Now, those treatments, before they were approved
[00:21:45] were tested through clinical trials, and even when you look at the representation of all populations in clinical trials, there are differences. Why does this matter? Because if you don’t test drugs in the entire population, once you get them approved, it does not mean that they’re equally relevant, in all populations that you’ve picked up the side effects that may be more prevalent in certain populations compared to other populations.
[00:22:14] And we know in the United States that the clinical trials have predominantly been done in white populations. And not non-white populations. So when drugs are approved again, that you can see what the issues are. Yeah. We don’t know if they’re going like, if there’s something we’re missing.
[00:22:33] For other populations beyond that, what I would say is testing rates are much lower, which means that if you don’t like, if populations as a whole don’t get tested, they’re not going to necessarily benefit from the care they could have benefited from to improve their outcomes.
[00:22:52] And you know, we can get into cancer risk management, we can get into family communication.
[00:22:56] So there’s a lot of things that they don’t get to benefit from. And we know that the testing rates are lower. Yeah. What we’ve also done, we and others have shown this through research, that there are differences across populations in even telling people about testing. Oh yeah. So we looked at a study where we saw that
[00:23:19] what was most correlated with getting testing is being referred for testing, right? Your provider. Sure. Yeah. But there were differences between Black versus white women with breast cancer in terms of how, like who was told, who was not told.
[00:23:33] So white women were much more likely to be told
[00:23:38] About genetic testing compared to black women.
[00:23:41] I don’t know why this is because this was not a single institution study. This was across an entire state. So again, I, and I don’t think that this is because doctors don’t want to tell their patients, but there is something systematic going on where we just need to do better.
[00:23:56] Adam Walker: Yeah, that’s right.
[00:23:57] Yeah. And I’m glad you called that out. I’ve seen those studies as well. So, let’s assume someone gets genetic testing. How can they use those results to be proactive about their health?
[00:24:13] Dr. Tuya Pal: So like I’d said, when we think about genetic testing, if a mutation is identified, it’s an opportunity to refine care.
[00:24:23] So what I think about is each gene has its own pattern of cancers. For which an individual is at risk for that increased risk of cancer then directs, well, what are we going to do about it? Like, is it going to be enhanced screening? Is it going to be targeted treatments, is it going to be preventive surgeries, et cetera.
[00:24:45] So that’s where I would say that there are some follow-up things that one can do if they’re positive.
[00:24:52] Adam Walker: That’s good. Okay. And I guess last question man. I’ve had a lot of questions. This I, this is my last one for now. Let’s say to somebody listening, they think they might, should get tested, they’re not sure.
[00:25:09] How should they start a conversation with their healthcare provider about whether or not they should get tested?
[00:25:16] Dr. Tuya Pal: Again I think there are different strategies here, depending on who you’re seeing, like collect your family history could be a guide to figuring out should you get tested, should you not get tested?
[00:25:28] Are you eligible for testing? Again, people think that this testing is super expensive, and I’m not going to say it’s cheap, but right now we can do testing, self-pay, even if you don’t meet guidelines for about $250. So that’s where, and that can be many genes all at the same time. Wow. Yeah. So testing has become much more accessible than it had been in the past.
[00:25:52] And that’s because of technological advances. Now that being said, there are like… collect your family history, go to your doctor. But there are other resources. There are genetic counselors all across the country that you can make an appointment with to kind of see, okay, what are your risks, right?
[00:26:10] There are certain things that you should think about before just going forward with testing, like a discussion. And the reason I say a discussion is super important in the context of not having a cancer diagnosis and really wanting the testing. To be proactive about your health, you need to think about other things.
[00:26:28] So in the United States, we have laws to protect against health insurance discrimination, meaning that even if you test positive, it will not be treated as a preexisting condition for the most part.
[00:26:44] Adam Walker: Right.
[00:26:44] Dr. Tuya Pal: But things like life insurance, disability insurance, other supplemental types of insurance, we don’t have national laws in place.
[00:26:51] There are certain states where you have laws in place, but there are many other states where you don’t. So what that means is if you go, if you get tested, you’re unaffected with cancer and you’re positive, you could go out and try and get new life, disability, other supplemental policies or up your existing, or you could try to up your existing policies and those companies would have the right to ask you about genetic test results and they would have the right to
[00:27:25] discriminate against you, meaning use it as a preexisting condition. So those are the things you need to be thoughtful of. And there are workarounds, and again, you can have everything in place ahead of time, right? And then it’s not a preexisting condition, right? So again, I would think holistically about what are the pros and cons about the testing.
[00:27:46] The other thing I would say is even for BRCA1 and BRCA2. I don’t advise women to get tested typically before the age of 25 because we’re not going to do anything before the age of 25. So there are reasons that we say, Hey, this makes sense to get tested at this age, versus, Hey, why don’t you wait a bit?
[00:28:07] Yes, we know that your mom has this mutation, but this is really not relevant for you right now. So going to a professional that knows this information is important because even with the timing and that’s not to say we’re trying to withhold testing from people. It’s more to say, Hey, here are your options.
[00:28:24] Here are your considerations. Do what’s best for you, but keep these things in mind. Another thing I’ll say is we do have national guidelines. Are kind of best practice guidelines through the National Comprehensive Cancer Network or nccn, as many folks know it. And through those guidelines we put forth…
[00:28:45] here are the eligibility criteria for testing. Okay? And we’re very thoughtful about why we do this, because we want it to be guided by the best literature and research, right? That’s available. So the guidelines keep expanding, but it’s based on the evidence that we have in hand, right? But why that’s important is if you meet NCCN guidelines.
[00:29:09] You can, testing is generally covered by insurers. So insurers look to the NCCN guidelines. So again, you could have a fa, that’s why it’s important to find out what your family history is.
[00:29:21] Adam Walker: That’s right. That’s right.
[00:29:22] Dr. Tuya Pal: And share it with your provider or agent ed counselor, so that they can kind of figure out, well, is this going to be covered by insurance?
[00:29:30] Many times it is, and NSGC or the National Society of Genetic Counselors has made it super easy to be able to find a genetic counselor. I think it’s find a genetic counselor.com, which takes you to a website where you can just put in your zip code to find the closest gen counselor to you. So again, okay.
[00:29:49] Okay. There are many strategies to be able to kind of get the right care for you, but sometimes you have to be your own advocate to find the right care.
[00:29:58] Adam Walker: Yeah. Well and I think you summed it up really well. I mean, you said, you know, talk to your family, understand your family history. Then talk to your doctor or find a genetic counselor and take that next step.
[00:30:09] And I think that’s a smart way to go about it. So Dr. Pal, this was great. I learned a lot and I really appreciate you take, man you’re so good at this stuff. I mean, you’re obviously good at this, you’re a doctor in this stuff, so, but this is so great. Thank you so much for joining me on the show today.
[00:30:25] Really appreciate having you.
[00:30:27] Dr. Tuya Pal: Yeah, no, thanks for having me. This was fun.
[00:30:33] Adam Walker: Thanks for listening to Real Pink, a weekly podcast by Susan G Komen. For more episodes, visit real pink.Komen.org. And 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 at AJ Walker or on my blog adam j walker.com.