Latest / Mane AF / EP #5 Your DNA Knows Things You Don’t. Do You Really Want to Know?

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EP #5 Your DNA Knows Things You Don’t. Do You Really Want to Know? · Mane AF

• MANE AF: Did I do anything this week to piss you off? Yeah, but you were pissed off at me for so long. I was pissed off and I still a little bit. That's how I know that our fight is almost over is when you say I'm still mad. You said that. Did I? You did. That's how I knew that we were almost done fighting. Do you remember why you were mad at me? It's been so long. No, that pisses me off because I can't remember why I was so mad at you. were you were real good at being mad at me for three days. I well, two, two, two, Well, you just don't listen to me. I don't know. why are you handing me this? do we got to we're doing this again? Well, do you want to do an intro? MANE AF Brittany Intro: I'm Tyler Mane And I'm Renae Geerlings This is Mane AF, the podcast where we talk about life, love, work, and reinvention. And all the wake-up calls that hit you in midlife. Today we're looking at what we inherit and what our genes can tell us. Otherwise known as more stuff to blame our parents for and the things our kids can add to their ever-growing list of grievance. Welcome to Midlife Marriage and Mayhem. We're Mane AF. Booyah. One take. MANE AF: If someone could tell you today that you had a significantly elevated risk of developing a serious disease 10 years from now, would you want to know? Before I would have said no, but now with this Having this breast cancer cut out of me I probably if I would have known I probably would have had it cut out of me a lot sooner because I would be like it could be that possibility. So I'm all for genetic testing now I don't know if you know this but in 2013 Angela Angelina, Jolee publicly shared that she carried a BRCA one mutation, which gave her an estimated 87 % chance of a lifetime risk of breast cancer and a 50 % chance of ovarian cancer. And she adopted to undergo some pretty preventative surgeries to drastically reduce her risk. And then in 2022, Chris Hemsworth was doing the Limitless series. And through that took a test, I think it was a blood test, that showed that he had two copies of the APOE4 gene, which predisposes you to Alzheimer's. And that was a really big piece of information that, as far as I read, caused him to step back a bit from acting and spend a lot of time with family. And now in 2026, actor Tyler Mane found out that he carries a BRCA2 gene mutation. So now what, Tyler? Yeah, now we'll just move forward and... Talk to the genetic counselor to see what we do next. speaker-0: Today our guest is Brittany Hird. Brittany is a certified genetic counselor. She helps people understand how health problems like cancer may run in families, whether genetic testing might be helpful, and what the results could mean for them and the people they love. She's here to help us break down the science in plain English and talk about what it feels like to learn that your family history may also be a part of your future. Brittany, welcome to Mane AF. speaker-1: Thank you. Thank you so much for having me. speaker-0: Thanks for talking to us today. speaker-2: So in my journey, I have met five different doctors. First, my regular doctor, he goes, it's probably nothing, but send you to a dermatologist. Dermatologist goes, you probably want to go see a surgeon because it's in your breast tissue. Go to the surgeon, surgeon has it removed, and next I'm talking to an oncologist. And then Dr. Feinstein, who is an oncologist. He's a wha what he's a medical speaker-1: He's a medical oncologist. speaker-2: oncologist. how do you fit into the treatment process and the whole planning for my road to recovery? speaker-1: Mm-hmm. Doctors will refer patients over to me, people who meet the criteria for testing. So if someone has a, you know, striking personal or a family history of cancer, they'll say, Hey, why don't you go speak with a genetic counselor? Then that's where I come in. I talk about genetic testing to figure out if there is a genetic predisposition for that person or that family, maybe something to blame for the cancer. And depending on the types of the results from the testing, that could help. treatment decisions. and then going beyond treatment, it could help long term screening plans for that person and their family. Just making sure, you know, are we staying extra vigilant for them? Are we thinking about the cancer screens that might not even be offered based on their results? So just kind of hopefully putting everything together, maybe finding a genetic root cause. And if so, we can kind of use it to our advantage moving forward for that person. So that's where I come in. speaker-0: And I also a question for you 'cause I'm really interested in how does someone end up For the nerding out. How speaker-1: I'm here for it. speaker-0: does someone end up in the role of a genetic counselor? Because you do have a a master's. Is that true? You have a master's. So there's science, but then there's also the psychology of what you're dealing with. So tell tell us how that all works together. speaker-1: Yeah, yeah. So so me personally, I was pre-med in undergrad. I was kind of thinking, like, should I go to med school? I want to be somewhere involved in the medical field, but I just don't know exactly what. And then my mom actually told me, she's like, I heard about genetic counseling through my friend. You should look it up. Sounds like something you'd be interested in. And it was. I I heard of genetic counseling and I didn't think it was a real job because that name sounds weird. I'm like, there's no way. How do you talk to genes? How do you counsel them? But I don't think there's a perfect name for genetic counselors, and there's a lot of back and forth on what we should be called, but I think I think we're stuck with that for now. but yeah, you do go to a two-year master's program in genetic counseling. and so I went to Emery for two years. We do tons and tons of courses in just, you know, science, genetics, biology. we take classes in human development, you know, the whole shebang. And then kind of what we've woven in there, we do take classes on psychology. How to give bad news, how family dynamics, you know, might kind of skew our our workflow of getting kind of the genetic test results out there. so it's it's a it's a pretty intensive course that we all have to go through. speaker-0: because this is a burgeoning science. It's relatively new, but there is so much that we're learning really exponentially. As of 2026, there are more than 64,000 to 77,000 genetic tests available globally. And that is covering more than 26,000 to 28,000 distinct genetic conditions. That's a lot of information. and those exact counts fluctuate constantly because new tests enter the market daily and older tests are continuing. Retired or updated. So, how do you try to stay up to date with all that? Do you focus on a few tests, a few traits? Tell us about that. speaker-2: First of all, is that even true? Sixty four thousand to seventy seven thousand? What would you speaker-1: Yeah. And then I I'm I'm not sure what you know what test is called a genetic test. I'm sure that term can be kind of used across the board. There are some genetic tests. I even get these advertisements on Facebook where it's, you know, do your whole genome sequencing for $500 and we're gonna tell you everything there is to know about your life. However, I I you can always do those tests. Just understand, take those results with a grain of salt. Those tests usually are not. The diagnostic tests, the ones that I I order for my patients, the ones that, you know, have clinical validation. They're used to manage care or a screening or treatment. They're more of like a a fun test, I would say. people can do it, but it's not going to give you much. Don't speaker-2: Don't rely on it. speaker-1: rely on it. I I've seen a handful of those reports where people bring it into me and say, this genetic test I got from an ad on Instagram. It said I have this, this, this, and this. And I'm asking them questions about their family history, their personal history, and that's not lining up. I'm gonna order confirmatory genetic testing through one of my reliable labs, and it always comes back negative or normal. So those ones scare me because they're so like readily available and they're out there, and people can just order it on their own without like a medical provider overseeing things. So those make me nervous. So yeah, kind of tangent off of your question. how we stay up to date on information. A lot of genetic counselors choose a specialty to go into. So my specialty is cancer oncology. some of my classmates are specializing in pediatric conditions. So we di but depending on our specialty, that's the the papers that we read up on. Those are the, you know, special interest groups that we're a part of. we have email chains going back and forth, sharing papers, sharing updates. with the genetic testing labs that we use too, they they've been pretty good about. coming out to us. We have different reps from the labs and they keep us up to date. we provide feedback to them, say, Hey, we really wish you would add this to your genetic testing offerings. And sometimes they listen, sometimes they don't. But it's just it you just have to really, really, you know, make it a point, you know, every so often, keep up to date with the science, look to see if there's more genes out there we can test for, better technology, better labs. It it's it's constantly changing. So it's tricky. speaker-2: like when we ran mine, we said run the whole gamut because we wanted to well, she wanted to know. I was like don't speaker-1: No one's gonna speaker-2: tell me. Yeah. And we ran, I think, eighty five. Right? speaker-0: Mm-hmm. speaker-2: Yep. So we ran eighty five. were those those were all cancer related genes. Yes. What were some of the genes that could come into effect that might have speaker-0: And can I add to this question, please do because we already knew where he'd had a tumor and because we knew what type of tumor it was, was the the panel that we ran, was that specifically for that knowledge or did we run something broader? speaker-1: Yeah. So we ran something broader for you. And that's always a point I bring up with my patients during the first consult. I say, you know, hey, here's what I see in the family tree. Here's kind of the the group of genes I'm most worried about for you. We can stick with that. Or some people like to just cast a wide net and look at all sorts of different cancer risk genes just to see if there's anything else, you know, that they need to be aware of their family needs to be aware of. So I think you chose or or Renee talked to you about doing the the more comprehensive panel. So yeah, we can kind of divide and conquer based on what area we need to focus on, but a a good chunk of people choose to do the more comprehensive one just just to see. speaker-0: If I came to you or your office and said, I want to run them all, and including things like I'm assuming there's tests for ALS or multiple sclerosis or Parkinson's, is there a way to get a more comprehensive, knowing that comprehensive is still relative? Yeah. speaker-1: Right now there's not a one size fits all test. because i again, based on the indication. If we're focused on cancer, we're going to choose a genetic test looking at the cancerous genes. if the concern is ALS, there are ALS related genes that are typically ordered by a genetic counselor or like a neurologist. and and I think too, we we'll probably touch on this later, but we all have so many genes and there's gonna be so many variants between us. Like if you laid out all of our genes on a table. There's gonna be so many differences, you'll go crazy. Not every single difference is bad for us. Some are just random, you know, unique things that we're just born with. It has nothing to do with our health. So I think that's where it gets complicated too, where we don't have a one size fits all test. It's what are you most concerned with and which specialty do we need to kind of, you know, refer you over to. speaker-2: Yeah, like and with me, because I didn't know my parents what what they passed away from or if they had stuff. Like I knew my father had cancer, but I didn't know what kind of cancer, and then he passed away from a heart attack. And my mother and I didn't know their parents because they passed away long before I was even born. Right. And that was just stuff that wasn't talked about. So that's why we thought that they eighty five, one to go and to yeah try and rule everything out was the best way to go. speaker-0: And also keeping in mind, like this is there's so many variables, right? And correlation does not mean causation. It's entirely possible, it's my understanding, that somebody could have a BRCA two gene or a BRCA one get breast cancer and it ended up being because of an environmental factor and the gene wasn't even switched on. Is that true? speaker-1: Well, yeah. So so to kind of back it up a little bit, these BRACA genes, everyone talks about, you know, everyone hears about them. they're part of our a group of genes I call our cancer genes. We have a lot of cancer genes. Their main job is to keep our cells healthy, make sure everything's growing like it should. when we have mutations in them, when they're not working like they need to, that's what puts us at that higher risk for cancer. yeah, some cancers can be due to a a single gene mutation. It it's hard to figure out, okay, was it the gene mutation just by itself? that led to cancer or was there some environmental factor that had to happen? Like are there there needs to be a couple of events that happen in this specific cell in order for the cancer to begin or or to start. but having that predisposition definitely puts you in that higher risk on a on a higher kind of plateau is how I think of it. speaker-0: And it's possible for siblings to both have the same gene mutation, one of them develop cancer or the disease and the other one not. Yes. Right? Yep. So it's not a sh knowing is not even half the battle. speaker-1: Correct. Correct. Yeah. Yeah. And I've seen that a lot. You know, I've seen big families, not a whole lot going on. One person comes up with cancer, they have a braca mutation and we're just, you know, floored. Like wha what's going on? so every single person's different, every single family's different. That's why I tell my patients too, if you want to look things up online, you can go for it. But whatever you read might not apply in your specific situation. I do it too. I look things up all the time. speaker-2: That's exactly what you speaker-1: Yeah, so it's like hey let let's start from scratch with you. Of course, if there's already a strong family history, then I'll I'll I'll weave that into my conversation, maybe, you know, mention different different kinda scenarios there, but speaker-2: So we're saying that I could you hold hold hold that Renee. I'm kinda baffled here now. So from what you guys were saying that it could have not been my BRCA two mutation that causes this. It could have been my drinking a little bit or whatever else could have caused it. speaker-1: Yeah, that could be a factor. Yeah. Yeah. Again, having BRCA2 mutation that puts you at a higher risk, but again, not a guarantee. You know, other things have to happen in order for a cancer to form. But if someone if we know someone's at a higher risk for a cancer, we're gonna do screening more and and start them earlier, right? Pay more attention to them just in case something were to come up. speaker-0: So speaker-2: Damn it. speaker-0: let me just go back to this, just to put this in I to exp for me to make sure that I'm understanding, like a fifth grader. The gene, the bracket genes and the other genes that we're talking about, they're actually a part of our DNA as a protective measure against our body developing cancers. Correct. When they mutate, they lose the ability to be protective. Exactly. And that's when environmental factors can have a greater effect on our body or or other things. speaker-1: Yeah, I and I don't know what level of you know environmental exposure someone has to have in order for a cancer to form. I've tested plenty of people whose genetic testing was completely negative, no mutations, and there's all this, all this cancer in the family, no explanation. but right, having that g gene mutation, which we're born with, we get it from a mom or a dad, so it doesn't matter who we get it from, that puts us in a higher risk category to begin with. speaker-0: What if both parents have the mutation? Does that put you at a speaker-1: It depends on the gene to make things more complicated. having two BRCA2 mutations, that that's associated with a different genetic condition altogether. Typically it impacts children. children are are pretty sick early on and there's a higher risk for blood cancers. other gene mutations, you know, again depends on the gene mutation our parents have, and that's why we we talk a lot about testing family members. maybe not only testing them for the known mutation in the family, maybe casting a little bit wider of a net, just to make sure there's nothing else like that. speaker-0: if you were going to give a presentation to a fifth grade class, surprise. Yes as a pop quiz. Okay. and and you needed to explain to fifth graders the basics of genes. Like I remember being in school and learning dominance and recessive, right? Brown eyes, blue eyes. That's pretty much what I recall. But now I'm also learning new words like penetrance. Doesn't mean what you think it means. And also expressivity. So there's a whole new vocabulary. speaker-2: Okay, so I will be your fifth grader. speaker-0: Yeah. Okay. So if you were gonna give us the the spiel, how do you express the concept of of genes and genetic testing to speaker-1: Yeah. Yeah. So just starting from the beginning. It's, you know, when we're born, we inherit all these genes from both of our parents. Some of the genes tell us what eye color we have, tell us how tall we are. And then some genes we have in our bodies that do important jobs like protecting us from developing cancers. So the cancer genes, they're in charge of telling when our cells grow, when they stop, you know, how they replicate, what looks normal, what doesn't, and they try to fix everything as best as they can. and and sometimes we can inherit mutations. Mutation just means a gene cannot work like it needs to. The instructions are wrong from the get-go. We get it from a mom or a dad. And when we're born with specific gene mutations, that could put us at a higher chance to develop certain conditions when we're older. and then that could help our doctors figure out how best we need to keep a close eye on everything. You know, do we need to do more cancer screening? Is there a higher chance for a heart disease to come up? Do we need to see a cardiologist early on in life? So it can kind of help us with a a roadmap for the long run, is the hop hop to hopogenic testing. and No, like like what you said, just because genetic test comes back with something doesn't guarantee it would happen, sp specifically in the cancer field. but it could just be used just just to be more proactive, if anything. speaker-2: So it helps the doctors go on the path that they need to follow for treatment or head speaker-0: Or looking at speaker-2: for possibilities of stuff that could happen. Right. speaker-0: Right. So what is the difference between a gene variant and a gene mutation? speaker-1: So gene mutations are gene variants, but not all gene variants are gene mutations. yeah, variants just means a difference in a gene, but not all differences that we have on our genes are bad for us. They're not going to, you know, cause us to be at a higher risk for disease or conditions. But a mutation, sometimes they they term it a pathogenic variant that just means disease causing. That means the gene cannot function with that difference. Something broke in the gene, the instructions are wrong, it's not doing its job like it needs to. so we all have variants in our genes. That's just what makes us all look different, you know, compared to everybody else. but not all differences are those mutations that are bad for us. They're just what makes us different. speaker-0: And do we like in chromosomes, do we get multiple versions of the gene from our parents? So if we if we have one of the genes is mutated, but the other ones are fine. speaker-1: Yes. Yeah. So for these cancer genes, everyone has two copies of each other cancer gene, one from mom, one from dad. So everyone has two BRCA one genes and two BRCA two genes. When we're at that higher risk for cancer, typically we just have the one mutation. So we either have one BRCA one mutation or one BRCA two mutation. And so right, like the thought process behind that is okay, you know, if one gene is down, maybe the other one can help pick it up. But if something happens to that other gene, let's say just normal aging process. We're exposed to something, maybe we had some sort of lifestyle factor going on there that could speaker-2: Don't look at me. speaker-1: That could, you know, no, cause something to kind of avalanche, if you think of it that way, to where a cancer cell could potentially develop. speaker-2: Now what is it okay, so there's BRAC a one and BRCA two. Is there any kind of a major difference between those two or speaker-1: One was found before two. So that's why it has a one on it. but as far as cancer risks go, I I talked about them pretty similarly. They're both higher risk genes. there's slight differences, you know, if you're a man or if you're male or female on if you have a BRCA one or Bracket Two mutation, what cancer risks we're we're more concerned about. But the typical screening guidelines are are very similar between the two. speaker-2: Okay. And and now how many so out of those there's a certain amount of genes that could affect men more than women, or or am I getting that correct? There's speaker-1: I guess it depends speaker-2: some that affect men that don't affect women or speaker-1: Yeah, well well yeah, there there are a couple. so there are some genes that only carry a risk for prostate cancer. As far as we know, it might be different later on down the line when science catches up. but those gene mutations, right, we would, you know, of course want to make sure we're testing all the men in the family, but it's still important for the for the females to know, especially if they have any boys. Right. And then two, if it turns out 10 years from now we find out that that mutation related to prostate cancer risk actually increases the risk for female breast cancer. Then at least all the girls would know if they carry that mutation or not. but the BRCA genes, going back to them, I hear this an awful lot where they say, I can only inherit a BRCA mutation from my mom, right? Because she's a girl, you know, sh maybe she had breast cancer. I'm not worried about dad's side. I'm gonna ignore him. We can't ignore dad's side of the family. We also can't ignore if there's only been like male cancers in a family, because those could still be genetic due to a BRCA mutation and those could still impact every single person in the family, regardless of, you know. who or what they are, what they are born with, it still would be important for them to know about. speaker-0: Do you find in your work with families that there's a tendency with a brackagene to focus more on sharing the word with the females? Yeah. Because we don't talk about the male versions. speaker-1: Exactly. Exactly. And and when I bring up I I always talk about the BRCA genes, I I typically whenever I see an indication for like breast cancer or ovarian or prostate cancer. and whenever I say, men can have a BRCA mutation too, everyone goes, No, they can't. Like, yeah, everyone has these BRCA genes. Fair game for us to have mutations in them. Doesn't matter who we are. And so when I start explaining more of you know, your dad's prostate cancer could be related to his sister's breast cancer, all through this one same BRCA mutation. Then it clicks. Like, my gosh. You know, that that makes a whole lot of sense. We found the gene to blame for everything, you know, explain away everything on my dad's side. So yeah, that's that's a a a very a tough point I'm trying to, you know, re educate and redirect on of, you know, doesn't matter who is in your family, you know, make sure you get the word out if you're comfortable, talking to your relatives, which can kind of be a, you know, a a touchy subject there, depending on family dynamics. speaker-2: I had the BRCA two. We decided to get tested, tested for all of them. All the other ones came back negative, but then with this BRCA two, I'm having to see is it a urologist? And a bunch I'm gonna I'm going down even more doctor roads. Yeah. W for with the BRCA two, you say prostate cancer. Is there anything else besides that that I need to melt an increased speaker-0: Yeah. speaker-1: So she did. She did her homework. Well, I'm not saying speaker-0: Kick? speaker-1: But yeah, no BRCA two mutations, they increase risks for breast cancer, male and female. average risk for a man to have breast cancer is point one percent. Really, really, really low. When a man has a BRCA mutation, his risk goes up to seven percent, which is not, you know, a huge number in the grand scheme of things, but it's big compared to the average risk man. Right. Other cancers we see related to BRCA2 mutation carriers, higher risk for prostate cancer, as well as a higher chance for pancreatic cancer. Pancreatic cancer screening has definitely come a long way. There still is, of course, room for improvement. But everyone with a BRCA 2 mutation, and this was just a very recent update for the guidelines, no matter who or what's in the family again, typically a lot of those patients are recommended to consider speaking with the pancreas specialist around the age of 50. And they can talk to them about getting pancreatic cancer screening. usually involves a special MRI or a special upper endoscopy that goes on the throat. but but that's again kind of the the field that we get into now where these cancers that we might not have had the greatest screening tools for for a healthy individual. And we're kinda kinda kinda broached on that topic now. So I'm speaker-0: Cancer is a is a very serious cancer, so it's good to have as much advanced warning as you can. speaker-1: Yeah, absolutely. speaker-0: Are there more people coming to you who've had a diagnosis who are looking for an explanation? Or do you have more people who are have something in their family or someone who's had a diagnosis who wants to know about themselves? Yeah. speaker-1: feel like for me it's pretty split. it's pretty 50 50. it depends on the the cancer type too. You know, I get tons and tons of breast cancer patients. I get a lot of colon cancer patients, prostate, uterine. but I do get a a good chunk of patients who are, you know, young, they just wanna figure out what's going on in their family. They're just starting their cancer screening anyways because of their age. And they want to see if they want to do they need to do more or need to do, you know, better screening for themselves. speaker-2: So now with my kids, they're twenty nine and thirty, I should definitely tell them to go ahead and get tested, correct? speaker-1: Yeah, at least talk to a genetic counselor beforehand about it. 'Cause just because, you know, there's something in the family or just because it's, you know, a recommendation to get genetic testing, y you can say no. You know, it it's up to you if you wanna get genetic testing. So speaker-0: Let me ask you this question, what is the downside of the information? I heard and again I don't know this, so I heard that there was a time where insurance would deny you as l as if you had a pre existing claim, but that has moved forward like that it's it's better to know in advance. But yeah, what are some reasons why people would not want to know? Yeah. speaker-1: That that's a a big one. there was a federal law passed a few years back. It's called the Genetic Information Non-Discrimination Act. and this is what I talk about mainly with my my patients who are, you 20s, 30s, 40s, kind of starting out, kind of getting everything squared away. if they don't have anything major going on in their health history, I talk about it, of course. the federal law says that health insurance can't use genetic test results against us, which is nice. Life speaker-0: But what about life insurance? speaker-1: insurance, totally different field. Yeah. So if someone already has life insurance. Typically a positive genetic test result, you know, when it impact that. I'm not a broker. Do not quote me on that. I that's someone else's job. Right. But I talk about that because people will, you know, case I'm not doing the testing. I'll call you when I'm ready. Let me go talk to my broker, sign my papers, and then I'll come back and I'll do the testing. So that that's a big concern. another concern I think is just knowing. That's it's weird to think about genetic testing. And I wish I could tell patients ahead of time, like, let's get ready for a positive so they can get in that, you know, right head frame. but yeah, sometimes it just takes takes a while for them to be okay with their final choice. and I tell patients up front, you know, just because we're talking about it doesn't mean you have to do it if you don't want to. I'm just giving you all the info. That way you can decide what matches best, you know, with with your goals, with your values. so I I think the knowing again and the the the possible anxiety, because it's weird thinking about it. and it's weird knowing, you know, hey, I'm at a higher risk for cancers like. you know, sometimes that does more harm than good to s to some people. speaker-2: Yeah, if you're a stress basket like myself. 10, 20 years ago, you you know I probably would have been like, Hell no, I don't want to know. Yeah. But now that I've had it, I'm like, I kind of wish I would have had the testing because if I would have known that this was on the table when I felt something, I would have got my ass in there a lot sooner. And I was lucky I got it in stage one. Yeah. And everything's gonna be fine. It's been cut out of my body. I'm good. That's just something I have to say every time. So, and I'm fine, but a person like a especially with men, they find it a lot a lot of the times later at more advanced stages, correct? speaker-1: I now I don't know about that. I I don't know, you know, where in the the diagnostic journey people get caught. I don't know if they feel something. Some people I talk to give themselves self exams all the time and they feel something, they go get it checked out right away. So I think I I talked to a handful of men, not many, but a handful of yeah, yeah. But I I I I don't know if it's found on accident, maybe someone's in the shower, maybe someone talks about it to their dermatologist and the dermatologist is like, That's weird, go get it checked out. So I don't know exactly how most are are found or what stage they're diagnosed at. But but yeah, well to your point, you know, with the tonight testing is if we know this could be on the radar then then right. We're gonna gonna keep a closer eye on the tissue. Yeah. speaker-2: So men check yourselves. speaker-0: Definitely. let's talk about a negative genetic test. Say one someone goes in for a a test, the result comes back negative. What does it actually rule out and what does it still leave open? Yeah. speaker-1: So a negative genetic test, like we said before, does not mean 0% risk for cancer. It just means we looked at all these known gene mutations that could predispose someone to have cancer and you didn't have any. There could still be a mutation in the family that that person didn't inherit, which I talk about a lot, especially with my unaffected younger patients. It's, you know, my my parents had cancer, they passed away. Unfortunately, we we can't do genetic testing on them. If that person's genetic test comes back as negative. We don't know if their parents' cancers were genetic or not. So it's right speaker-0: They inherit one of the two. speaker-1: or right. Cause just because our parents have a mutation doesn't guarantee we would have it. It's 50% chance that we would inherit something our parents had. So they they could have been that 50% category for all we know. So negative result, and I explained to patients too, it's I'm always gonna fall back on your family tree just as like a safety net. So if I see early onset breast cancer in the family, I'm gonna recommend you get your breast exams or breast screening earlier, maybe than normal. Or at least go see a breast specialist. speaker-0: It be possible for that to skip a generation then? If your parents had it but you don't, is it possible for speaker-1: Not the mutation. Okay. so if you don't have a mutation, you you can't pass on one. Okay. Now you have to look at the opposite side of the family. So if you have kids, you look at their dad's side, look at their mom's side, see if there's any genetic testing needed for for that that reason. But yeah, so and that I get that that point that comment a lot too of, yeah, breast cancer skips a generation in my family. You know, my mom had it, so I'm good, but like my daughter might have it. the mutation cannot skip generations. It has to go line by line, but having cancer. could appear like it does skip generations because we're all at least at the average risk, unfortunately, for cancers. it just again might pop up randomly in a person. Maybe some cancers in a family are just truly, truly sporadic environmental. Maybe some are genetic, you know, predispositions. speaker-0: What is an uninformative negative? speaker-1: That's like the scenario I talked about, maybe a a younger person, no history of cancer, genetic testing for them is negative, but we don't know why it's negative, right? 'Cause maybe the parents had something genetic and their tests came back positive just because a a child a child's test came back negative is uninformative because it's not explaining why there had been cancer in that previous generation. Got it. Mm-hmm. speaker-2: Now, I was reading something that said that there's five to ten percent cancers that are inherited. speaker-1: Mm-hmm. Yeah, five to ten percent are inherited. speaker-2: And w like what does that mean? Can you explain like what kind of a cancer is inherited compared to like would that be the breast cancer? Would that be speaker-1: Yeah. Well well well and we find that information out from the genetic test. The genetic test is trying to figure out do you fall into that hereditary category? so if someone has a BRACA mutation, that falls into the hereditary category. and it could be for any cancer. There are a number of different cancer risk genes that we have. Different mutations cause different cancer risks. there are gene mutations related to colon cancer risk, some related to kidney cancers, thumb thyroid, you know, so is it's we can cast a pretty wide net for the genetic testing. speaker-0: Do you notice any generational differences between how for example, like the boomer generation versus the Gen X versus the Millennials versus Gen Z? Do is there more eagerness to accept the science in the younger generations and more of a mistrust in the older generations? Or is there like a phase of life where you see people more interested in it? speaker-1: I haven't thought about that. I feel like it and it's this could just be because they're coming straight out of school, like with the 20 year olds, 30 year olds, maybe they remember their biology class, you know, kind of more readily. So they are able to follow the conversation, they understand what genetic testing does without, you know, too much explanation. the older generation, yeah, it's a you know, genetic testing's really only been around what, about twenty, twenty-five years now. So it's really, really new in the medical field. So it's weird to talk about, you know, people are like, wait, so it's gonna tell me if I have cancer or not. So there's a lot of a lot of education that goes on in the older generations. but as far as like eagerness goes, I I've seen it all all over the place. Some people are really driven to know this information and some people are like, Yeah, you know, thanks for the convo, but I'll I'll see ya never. You know, so it's do you really speaker-2: I was kinda forced into it by her, so speaker-0: That was what I was gonna ask. Do you like with couples? When you talk to a couple as you talk to both of us at the same time, do you have you experienced a bit of a like a bickering or difference of opinion? Yeah. That you kind of have to wait out. speaker-1: Yeah. speaker-2: Width, yes. speaker-1: Yeah. Yeah. And again, you know, i if if talking to Tyler, okay, he's my patient. Tyler, what do you want to do? See if he has any sway or any in influence. Hey, that's up to you. But no influence in this speaker-2: I'm just told what to do. speaker-1: But yeah, I that happens a lot. And like when you get like family members, I get a lot of like elderly patients with their daughter on the phone. and I'm I'm Ellis daughter, only child, so I'm I'm very much like that. Like you do this, mom, you do this, grandma. so that I I run into that dynamic as well. but speaker-0: And what happens in that dynamic where potentially you have someone who's say a younger person who's helping their parent or their husband? speaker-2: Yes, I was looking at you because I'm wondering where this is going. speaker-0: You were looking at me and I th My point was it do you when you have someone who's not the one who's making the decisions but is clearly advising the patient, how do you navigate that to allow the patient to still have the agency to make their own decisions, but still being advised by the by the younger person? speaker-1: Yeah, thankfully I don't come across, you know, super, super polarizing differences a lot or or differences of opinion a lot. but I would imagine that situation, I would try to get maybe the patient by themselves if possible. sometimes, you know, there's transportation issues. Sometimes, you know, maybe everyone lives in the same house. So it's hard to like say, Hey, go in the other room so I can talk you. but but but yeah, it's it it's more kind of going with your gut of is this this person's decision or you know, is I are they being kinda, you know, pushed in this direction? speaker-0: Tyler's giving hand signals under the table. Help me. speaker-2: Yeah, what is it? speaker-0: Are we moving on? Did you just say I abused you? Is that what speaker-2: That is a daily moving on. speaker-0: Maybe. so I'd love to talk about where do you think genetic testing is headed? It's moving so fast. It's such an exciting field. Do you think at some point genetic testing will be just a a normal part of of medical treatment? Maybe even starting when we're young. speaker-1: I I would imagine and and this is where the guidelines come into play too, especially for cancer. The guidelines have become thankfully way more relaxed in the last couple of years. Before it used to be in speaker-0: In terms of what speaker-1: terms of like coverage or who is offered genetic testing or who even the insurance company would think about covering testing for. So so I could see maybe potentially all cancer patients are offered genetic testing. I don't know if that's, you know, a very, you know, kind of not smart choice, but a feasible kind of plan of attack because there's not that many of us to interpret the results and explain everything fully. Testing it speaker-2: Yeah. Berth would be like a box of getting a box of chocolate. So I don't know what the hell you're gonna get inside. speaker-1: Yeah, yes. I I don't know. I don't know. I know speaker-0: It's kind of like getting a map. speaker-1: Yeah. speaker-0: It's it's like you were born and here's your instruction manual and not everything is awesome, but here's something to expect. speaker-1: Yeah, I don't know. speaker-2: No, you would. You're crazy. speaker-0: I want all the info. speaker-2: No. I don't think I'd want to know. Well, yeah. I guess that would knowing would but that's a double edged sword. Like if you know all that shit, you're gonna be like, I'm speaker-0: It's also not written in stone. I mean because because the thing is right now right now, speaker-2: But speaker-0: not knowing any of the information, it's all possible. speaker-2: Well that is true, but it's in everybody's different everybody's thought process is different. Like when you say to me, You want to know everything, I'm like, no, no, we we really don't. We I don't. I don't wanna know. speaker-0: Well, I guess I say that knowing that quote knowing everything. I'm saying that with air quotes for speaker-2: Well you think you know everything already, so speaker-0: that is also true. w genetic testing isn't knowing everything. It's just having more statistical information for what's possible, which could change how you have live your lifestyle factors, right? Like if you knew from a young age that you had a genetic mutation that made you more predisposed to having cancer, maybe you would. not have smoked, or not have gone in suntanning beds, or not have drank. speaker-2: Yeah, well but isn't it true that forty percent or more of all people are gonna get some form of cancer in their lifetime? Yeah. speaker-1: That's pretty high. speaker-2: It's a really high thing. So you you're it's on the table anyhow. So speaker-0: I know. I'm just saying if there's a higher statistical chance, I wanna know. speaker-1: And there's a lot of people in the middle, you know, between you two too. It's like I kinda wanna know, but like I don't wanna know everything, but maybe like just this, but maybe like i i it that that's I think that's always gonna be something we're gonna be kinda speaker-0: I am also stuck like when I did my I ran my some of my genes and I got the lactose persistent gene, which I didn't even know existed. which just means that some people are lactose intolerant, some people are normal, and then there are people who for whom dairy is like I was just afraid that I was never gonna be able to eat cheese again. At some point one of my friends became lactose intolerant in his twenties, thirties and that terrifies me. speaker-1: Dad, yeah. speaker-0: So knowing that I was like, Woohoo. Yeah but that's all but speaker-2: Remember at the beginning of the podcast you said you can't believe all those tests. So speaker-0: Well, I'm also going to believe that I am manifesting my reality and because I've gotten that news, I believe it. But that goes the other way too. I I do think that we can sometimes create outcomes because we mentally believe them. do you think that's a a pitfall of some of these tests? speaker-1: Yeah, yeah. Probably going back to the anxiety. maybe that could add extra stress. Stress isn't good for anybody, you know, regardless of who or you know, what kind of mutations they have or not. so so potentially, and that's where too, if if I if I can kind of sense someone's maybe not there yet to maybe have this information, it's do you talk to someone? do you talk to a relative? Can you bounce an idea off of them? Maybe they can kind of help you make a choice or kind of help you make sense of this this kind of scenario. A lot of people I speak with too, especially the younger people, you know, already have counselors or therapists. And it's like, okay, well, let's just pause our conversation. We won't talk anymore. Maybe you go talk with, you know, someone who knows you better and and how you think. so yeah, I I I believe that too and and and that's why a good chunk of people decide to do genetic testing, but also we we have a lot that say, you know, no, you know, I I wanna I wanna think about things or hey, I'll get back to you. Let me just Let me make sense of it a little bit more. speaker-2: Now, if a person wants to get tested and hasn't had cancers or anything, can they just come in and say, Hey, I wanna get a test? or do they have to be referred by a physician? speaker-1: Yeah, they need to be referred by a physician or it could just be a family, you know, medicine provider. some people you'll see NPs or PAs nowadays. We take referrals from them. Typically, that's how most genetics clinics work. I'm sure that there are some genetics clinics that just take self referrals. but typically we like to have a doctor or someone to send the results and the recommendations to, just since they're having such a close relationship with that person, anyways. So, yeah, for us, we work on referrals. but but I'm sure that there are some offices that just take walk. speaker-2: Yeah, so it's if a person wants to like me, I mean, I didn't know my family trees history because my my parents' parents were gone, my parents are gone and and now my brother's gone. And s so if if I was in that situation, I'd probably want to come in and get a test to see, especially if they had passed away from some kind of cancer. speaker-1: Yeah. Yeah. You just bring that up to your family doctor and say, Hey, I would like to see a genet counselor and that way they can send you over and we figure it all out. speaker-2: So if you're watching this and you want to do that, go ahead and do that. Talk to your physician about that. I know some of the younger generation now aren't on health insurance and health insurance might not cover it, speaker-1: health insurance, you know, first of all, you know, if someone doesn't have health insurance, they can still get genetic testing. We could do the cash price or we could do financial assistance. Usually that can get the cost down. But the health insurance piece comes into play if if someone has a predisposition and they need a mammogram. They don't have health insurance. I I don't know how that, you know, could be done nicely. I know that there are some free like mammogram screening clinics that pop up, but that's not something that's, you know, gonna be sustainable, you know, for for the long run. Right. so ideally, you know, someone would have insurance. but yeah, on the the life and long term care and disability insurance side of things, that's could usually front and center of our conversation. Yeah. Yeah. speaker-2: She was hoping that I had to have a mammogram going through at the beginning. I really like Can you believe that? speaker-1: It happens though. It happens. speaker-2: Well I know. Well I luckily I didn't have one, but the way she explained it with the squeezing on the speaker-1: Here's speaker-0: This is my belief. If men had to have mammograms, it would be changed within 12 months. If speaker-2: Going. speaker-0: the men in power were forced to have a mammogram, and there is a reason that you were so mad that you had to ma have a mammogram because you know. So I actually said, he's finally gonna have to, you're gonna understand. I you're gonna feel my pain. And then he called and talked to the woman and she was like, no, we can waive that. I was so mad. I was so mad. speaker-2: Well, you said the men in power. I I've got no power over that, so why would you want me to put putting speaker-0: I just felt that like we could just, you know, kind of I think we could commiserate together. You would understand, empathy. How has this job changed the way that you feel about your health, your body? Has it changed how you feel about your health? I mean, if you go into this kind of a field, you probably always were a little bit of a speaker-1: Yeah, no, I definitely am. sometimes, especially if there's a patient who I can identify with. I talked to a lot of, you know, 30 year olds, you know, females, same family dynamics that I have. It's hard not to put myself in their shoes or be like, this is, you know, it kinda kinda kind of feels for them on that side of things. I if from from this job, I can say certain like twinges or from if I feel something, I'm like, no. And I go get it checked out right away. So maybe it's Gonna be a little more hypochondriac situation here. But but yeah, no, I I'm definitely, you know, more more more serious about my health. I still go out in the sun. Don't wear a whole sunscreen, don't tell my dermatologist, but you know, it's I'm more of a I grew up in California, that's the thing. but Simi Valley, Thousand Oaks speaker-0: We lived in Santa Clarita for a while. speaker-1: Okay, cool. Yeah, so you guys get it. The thing Yeah, you know, but overall it's just a and then learning too like there has to be a healthy balance. You know, I need to be worried about certain things, but not to, you know, this extreme. Right. It there there's to be that that healthy level of of concern, I think. So it's it I'm getting there, you know, being not overly worried or overly cautious and just just enjoying it, you know, taking it day by day. But speaker-0: That's good advice. General. Yeah. speaker-2: Yes. I I gotta try and live by that because I was in for my chemo stuff and and the doctor goes, Has anything changed in your chest or the breast area? I go, I don't know what you know, I was around speaker-0: Yeah, now he now he won't. speaker-2: freaking out. I'm totally so I understand what you're saying. It's like, is it? Okay. speaker-0: I don't know. Has anything changed? Am I different? Is it changed? speaker-2: I got a pain in my shoulder. Is that from this? I don't know what it yeah. I it's been a crazy weird trip that I've been on since the speaker-0: It does definitely know that it's on the table. Yeah. Not that it that not that it wasn't previously, but now that like that that seal has been broken. Yeah. The door has cracked open and now it does feel more more real. Yeah. For everybody. So we've got a couple closing questions. speaker-2: now come the tough ones. Okay. speaker-0: What do you tell someone who says, I'm afraid that knowing will ruin the years in which I might otherwise have been happy? speaker-1: Then we don't have to test. You don't have to test just because we're talking about genetic testing, you can say no, you can change your mind. Genes are always going to be there. So whatever that person needs to do, we'll do it. speaker-0: And what should someone do after a consumer DNA test reports an elevated cancer risk? Do they get an oncologist on board? Do they come to you for another test? Second opinion? What are next steps? speaker-1: Definitely bring that to your physician and then ask for a genetic counseling referral so that genet counselor can review the report, check it out, and they can recommend better or confirmatory testing to to to figure that out better. speaker-0: And what if that result also comes back positive? What are next steps? speaker-1: Yeah. Next steps depending on the gene mutation. If it's the cancerous gene or something else, then they can make the proper medical recommendations. But a lot of the insurance, a lot of providers wouldn't look at that consumer DNA genetic test and make recommendations. At least they shouldn't. They should follow it up with confirmatory testing via legitimate genetic testing. speaker-2: Now if There my test is in a database, correct? Now if the it changes I'm I don't know if we touched on this. Who we did. We did touch on speaker-0: Ask it again. speaker-2: who so who would inform me if it changed and and how could it change? speaker-1: Your results, you mean? Yeah. Okay. Okay. Yeah. So utrinic testing is at a lab and that's where it's at. Right. if there were any there's a type of result that we can get back called an inconclusive result. That's just a gray area result basically saying there was a difference in a gene. We don't know what it means, but we need to get back on you on that. If there are any updates to that inconclusive result, if the lab then decides it's negative, it's normal, they release a new report to the ordering provider. My name's always on the report. So if something, you know, updated with your testing, I'd be notified and then I would call you. so it depends on who ordered the test, what their policy is too on on the lab's policy on providing updates. Some labs don't reach out to providers if the update is good news, like negative results, but they'll reach out if it's positive, but if it impacts clinical care. So it depends on a lot of factors. But usually whoever's the one ordering the test is the one getting those updates. speaker-2: Now I had the BRCA too positive. Is there any way anything would change on mine or that's just it? Yeah. speaker-1: I haven't seen Yeah. You know where I'm speaker-2: And then speaker-1: going here, like I know what you're Yeah. speaker-2: Have to worry about or do I speaker-1: Yeah. I haven't seen it personally go from a completely negative result and all of a sudden there's a positive result. I've seen a handful of the inconclusive results go to positive, but majority of those go to negative. So most of the time we have a positive result probably sticking won't change. Yeah. Maybe the understanding of risks change though. So that could always that could always fluctuate. Not drastically, I don't think, especially with the BRCA, but but with these other more more newer discovered genes that we're just learning about, you know, risks could change on that. speaker-0: How many mutations are there in a gene, or is it just once it's mutated, it's mutated? Or do we have an understanding of the the variance that's a good question in the mutation? speaker-1: Yeah. so there are different types of mutations that can occur in a gene. most of them are like result in loss of function, so the gene can't do its job anymore. some genes are only, I guess, I don't want to say defective, but lead to increased risk for disease if there's a gain of function, the genes turned on too much. so I think we have a good understanding on okay, what genes need to be turned off too much or turned on too much in order to increase risk for cancers. But there are a lot of those variants there that you know, don't fall in either category where it's a positive or if it's negative. but I think like to get to your question, if we have one mutation and it damages the gene, completely doesn't work, those are the ones that get called positive. And we could have one or two mutations of that in there, but typically we just need the one to cause that gene not to work. Especially on a positive result. speaker-0: Wondering if we'll be able to get to a point where we can see, for example, with the BRCA2, right? Because there is pancreatic risk, there is melanoma risk, there is prostate risk and breast cancer risk. I think I call them all out. But like if we'll get to a point where we have a finer, more granular understanding of what that mutation difference is, and if we can see What the statistic is for will it be prostate, will it be breast, will it be melanoma? Do you think we're headed in that direction at all? speaker-1: like a more personal risk is that we're going at? speaker-0: just a more targeted understanding of what this type of damage does. speaker-1: Yeah. Yeah, they they give risk ranges for those cancers. and I've seen families where they fall into the high risk range of that. And I've seen families where I'm like, you're not even close to the, you know, lower portion of that. So I I don't know. And I don't know if it's because of the person, you know, and what they end up developing. I don't know if it's family. I don't know if there has to be certain environmental factors to influence, you know, one or the other. But I I don't know. That's my hope though. It's we have this big range and hopefully. For an individual person, we can shrink it maybe and and figure out exactly what could happen for them. speaker-0: Right. Because right now we're taking a population wide statistic and trying to give it meaning for an individual. And that's tough. How do you how do you work through that? speaker-1: Again, just explain everyone's different. If you Google this mutation, you're gonna find a hundred different stories of the same exact mutation. it's just, you know, just kind of taking the information we have so far and making, you know, your best choice off of what you want to do with this, whether it's more screening or ways that we can reduce the risk of cancer, you know, ahead of time. It's just very, very personal choice on how how people use that information moving forward. speaker-2: So do you recommend people Google it and and go to the AI stuff? Because every time she does, it says for me to go to the emergency room. It's ridiculous. I I think this is my closing. speaker-1: Yeah. speaker-0: I believe it's called covering its ass. It speaker-2: Well yeah. speaker-0: wants to make sure that it's telling you. Behave as if DEF CON 5. speaker-1: Yeah, yeah. I I if someone really wants to Google, go for it. But just be be mindful of the sources that you're clicking on. Right. Like Wikipedia. No. there are a really nice helpful links. There's one website called Facing Our Risk. and they have really nice information Facing Our Risk. Yeah, speaker-0: Again, what are we facing our risk.com speaker-1: yeah. Their their acronym is Force It's Facing Our Risk of Hereditary Cancer Empowered. and they have different Links, they have really nice information on there and I guide a lot of my patients to there because you can click on a gene mutation, it'll take you to a page where it has the risks and the screening recommendations. speaker-0: We buried the weed. speaker-2: no. speaker-1: But no, I I I that that's a that's a great, great link to go to. if people are interested in finding a genetic counselor, there's actually a website called find a genetic counselor dot com. And you can type in your state. You can type in like if you want a cancer, genetic counselor, you know, whatever kind of specialty, and they'll generate a list for you to contact as well. you know, that that's where I always guide my patients to, especially if they have relatives out of state and I have no contacts in that state, then hey, maybe go this website, search around, you know, see, see who is able to help you. speaker-2: That's a speaker-1: Yeah, there's there's nice links and then there's don't read that. speaker-2: And that's a good closing. speaker-0: Is there anything that you would like to tell viewers, listeners that we have not touched on? Or were we just that awesome? speaker-1: Well, you were just that awesome. but I would say you could always talk about the idea of genetic testing with the genetic counselor. You don't have to do it. You're not locked in. it's your choice. but at least hearing more about it could be helpful in you making that final choice. a lot of people don't know what genetic testing entails. I think it's like this hubig huge surgery or a bone marrow biopsy, I have to get put under to get this done. It's a blood or a saliva or a cheek swab test usually. The results come back pretty quick. It's about two to three weeks that that we will expect the results most of the time. and that again, the genet counselor, I feel like a broken record. Talk to a genetic counselor. They're the ones that will oversee everything, make sure everything runs smoothly, make sure that the results are explained clearly, and then make a plan for family. You know, we have the luxury of having a little bit more time than most of the other medical providers. so we we can spend more time making sure everything's really understood and making sure family, you know, members under understand what. speaker-2: And I want to say it's not as as stressful as say doing a PET scan. Like when I was doing my when I went in for my PET scan, I was freaking out 'cause I was like, God, do I have more cancer? I mean this is just finding out to help you on the right path to take where your speaker-1: Correct. It would not diagnose a cancer. It wouldn't diagnose anything other than someone being at a higher chance, which is just a chance. We all have chances. Possibly down the road, exactly. Then what you can do ahead of time to just be better prepared or be better screening wise or or even reduce the risk of a cancer. Yeah. speaker-2: Very cool. Well, thank you very much for coming. I appreciate you coming to our little party here. Thank you for joining us. we got that was that was pretty good. We got that right on time. speaker-0: And then also, also for the audience, we did just want to say to have a conversation. Is this genetic knowledge a wake-up call or is it a needlessly scary burden? What do you think? Let's talk about that online. MANE AF Intro: I thought she was great. She was very informative. Yeah, you nerded out and had some good nerd session there. I did. We did love I love the information. Back up and explain things like a fifth grader so I could understand, but that was great. Yeah. No, but it is actually good to know. And anybody out there, if you have cancer in your family, go this is an this is another option for you and your family to to get genetic testing done and talk to a genetic counselor that could possibly help you guide your journey. Guide your journey. Yeah. To to see and and help your doctors know what to be looking for more aggressively. Aggressorely. Right. Yeah. Yeah. Yeah. So it was a it was a lot of fun. talking with Brittany. She's great. And yeah, that's my genetic counselor, guys. There you go. Thanks for joining us. Thanks for joining Mane AF. See you next time. Another one in the books.