What to Know Down Below™
Welcome to What to Know Down Below™ by Tina’s Wish! We’re here to empower you with the knowledge and tools you need to advocate for your own gynecologic health.
Knowledge is power, and we encourage everyone to join us in learning more about what you need to know, down below!
What to Know Down Below™
Family Health History: Let's Talk About It!
Featuring Kristina Coccoluto, a BRCA1 mutation carrier & heredity cancer advocate, in conversation with Jessica Martineau, MS, CGC, a board-certified genetic counselor who specializes in cancer genetics at NYU Langone’s Perlmutter Cancer Center.
CLICK HERE for the CDC's Family Health History resources.
CLICK HERE to find a genetic counselor.
Follow Kristina on Instagram at: @kristinacoccoluto
Welcome to What To Know Down Below by Tina's Wish. We're here to empower you with the knowledge and tools you need to advocate for your own gynecologic health. Knowledge is power, and we encourage everyone to join us in learning more about what you need to know down below.
Speaker 2:Hi everyone. My name is Christina Coca Ludo , and I am thrilled to be your host for this episode of What To Know Down Below by Tina's Wish. I wanna introduce myself first. My name is Christina . As I said, I'm a BRCA one mutation carrier, and I found out my risk at 25 years old. Uh , it was suggested by my gynecologist, so I can tell you that story, but it was not something, I did not have genetic counseling, and it's something I so deeply wish that I had before I got tested. I ended up with genetic counseling before I elected to have surgery years later. But when I found out I had the BRCA mutation based on my family history, it was something that changed the course of my life. And I , now that I have completed both my double mastectomy and complete hysterectomy, I feel a breath of fresh air. And I wanna share with all of the younger gals always that are maybe newly navigating their risk, what not only it's like to live with hereditary cancer, but to know that it's possible to move on beyond your risk and live a full happy life. And so knowing your risk, in my opinion and in my experience, has been so, so important, and I'm excited to introduce to everybody here today. Jessica , um, uh, she is our subject matter expertise, and she is a board certified genetic counselor who specializes in cancer genetics at NYU Lings . Uh , is it Pearl Mutter Center ?
Speaker 3:Yep , that's right.
Speaker 2:Perfect. Um, well, welcome Jessica, thank you so much for being here today. Could you explain exactly what a genetic counselor does and who might benefit from seeing one?
Speaker 3:Sure. And so nice to , uh, have this conversation with you today, Christina , and thank you so much for having me. Um, and as you said, I , I'm a genetic counselor at NYU . I've been there 11 years , um, and have spent my career working in hereditary cancer. Um, so formally , uh, genetic counselors help people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease. So what does that mean in the cancer setting? Uh , what we do as genetic counselors , um, we basically help evaluate if a patient is , um, a good candidate for genetic testing, what that result might mean for their clinical management and what it means for their life in , in the bigger picture and for their family members. Um, and then also if, you know, if it has any implications for , uh, their life insurance coverage, et cetera. Um, and then also just the logistics of that performing, the testing, getting insurance to cover the testing, et cetera.
Speaker 2:Wonderful. So , mm-hmm <affirmative> . As you know, we're here with Tina's Wish and their mission is so focused on ovarian cancer and creating awareness. Mm-hmm <affirmative> . Why is being aware of your family health history so important, especially in the context of gynecological health?
Speaker 3:So, knowing the family history is key because , um, we are looking for certain patterns of cancer in a family that may raise or lower our suspicion of hereditary cancer syndrome, or basically a , a genetic predisposition to certain diseases, certain cancers. So knowing the sort of particulars of your family history really helps guide us , um, and our assessment of your cancer risk. But even outside of a genetic testing result, even if we have a negative result, knowing that family history can still help us give you a cancer risk assessment. So you may still qualify for increased cancer screens, just knowing the family history. So that's really, really a key piece of information. And , um, just helping us assess if there's any hereditary risk. And the gynecologic setting, especially. Um, these are cancers that , um, unlike say, a breast cancer, which you can palpate , um, you know, you're getting regular screenings for gynecologic cancers depending on the, the organ, either there's no screening , um, you know, these are internal , internal organs. You know, the, the cues to cancer may just be symptomatic there , uh, harder to screen for in general, or , or there may be no screening. Um, so knowing if you have an underlying hereditary risk can be really key information , um, to early detection or, or just being aware of a particular risk. Right .
Speaker 2:So if I think about what your role is mm-hmm <affirmative> . As a counselor, and what my role has been as somebody who advocates in the hereditary cancer community mm-hmm <affirmative> . After knowing my risk mm-hmm <affirmative> . Would you say, I often think about for the people that are newly navigating, or maybe they're not thinking about their family history at all mm-hmm <affirmative> .
Speaker 3:Mm-hmm
Speaker 2:<affirmative> . How would you break down to figure out what's important in family history with your me gynecological background or cancer in general? Because maybe it's not necessarily gynecological that's the red flag that could Right . To a gynecological cancer. So what kinds of cancers, if you were to just be thinking about your family tree Yes. What kind of cancer should be a red flag for a gynecological cancer? Right . Okay . And , uh, who in your family tree should we be thinking about?
Speaker 3:Okay. Gotcha. Yes . So, so, so cancer is really common, right? One out of three people gets cancer in their lifetime. So having some family history of any kind of cancer is not uncommon. Um, and many cancers are not hereditary, right? So things like lung cancer typically are due to a smoking history. A cervical cancer, which yes, is a gynecologic cancer is usually not hereditary. It's usually because of an HPV exposure. Um, so some of those details can be really important. But in general for , uh, gynecologic , uh, hereditary gynecologic cancer risk, we really wanna be keeping an eye out for any family history of ovarian fallopian tube or primary peritoneal cancers. Um, any family history of young breast cancer , uh, meaning diagnosed before the age of 50 , um, even within that realm , um, if there's a , a bilateral breast cancer or triple negative breast cancer, kind of more specific cancers , um, those are cancers to keep an eye out for a male breast cancer in a family. Uh , pancreatic cancer or metastatic prostate cancer are also big red flags. Um , a young colon cancer , uh, colon cancer diagnosed before 50. Those are all the big red flags that we look for in terms of hereditary cancer and especially hereditary gynecologic cancer.
Speaker 2:Okay. Great. So, can I pause and ask the question for you? Yeah . I took it, and let's just say hypothetical is that my aunt was diagnosed with pancreatic cancer mm-hmm <affirmative> . At the age of 52. I bring that to my doctor and say, my aunt had pancreatic cancer at 52.
Speaker 3:So believe it or not, with pancreatic cancer, it, it actually doesn't really matter the age, if you have any, it's a bit like ovarian cancer. If you have any family history of ovarian or pancreatic cancer, you do qualify for genetic testing. Um, and that's with basically with, with BRCA genes on our radar , uh, because pancreatic cancer is one of the cancers that we can see an increased risk for , um, in BRCA positive patients , um, a little more with BRCA two than BRCA one.
Speaker 2:That's so important. I don't think enough people talk about pancreatic cancer in general when it comes to not only screening, but mm-hmm <affirmative> . The red flags within a family. I don't think I've ever seen genetic counselor say that. So that's really incredible. I'm glad I asked that question. Um , well, it's ,
Speaker 3:It's , it's been a recent change too, so that may be why you haven't heard that that changed a few years back. And, you know, pancreatic cancer is often can also be associated with, you know, history of, of heavy drinking or smoking or pancreatitis , um, or a diabetes history. Those are non-genetic things that, that can be involved with pancreatic cancer risk . But in general, I think it was two or three years ago that guidelines changed to include any family history of pancreatic cancer. Uh, you can consider genetic testing.
Speaker 2:Wonderful.
Speaker 3:You brought this up earlier when we were talking about , um, you know , uh, what should we be looking for in the family? It's really important that you look at both your father's side of the family and your mother's side of the family. We inherit , um, half of our genes from our mother and half of our genes from our father. So the paternal family history is just as important as the maternal family history.
Speaker 2:Well , I will tell you that I inherited my gene from my mother, but my mother inherited her gene from her father, and he didn't pass from any , uh, when he passed, it was, was not cancer related , but his sisters were . So that's often mm-hmm . What can happen, but mm-hmm <affirmative> . I always talk about how there's a difference in generations moving forward, time technology and research. And in my family, I was really blessed to see it on my mother's side because it was slightly more obvious than if it was on your mm-hmm . Side . That's why I have family conversations so important. And I know it can be complex if you don't know. Mm-hmm . And oftentimes people don't talk about their family history. And I know that for breast cancer, women in general, how often kind of taken it silently their diagnosis and carried it and suppressed it. So what would you say are important questions to ask if you were to ask your family members or , or if I might ask that question better, what are some key points in starting a conversation around health?
Speaker 3:Yeah, that's a very good question. Especially now as we come up on the holiday , uh, Thanksgiving families together, it's a great opportunity to try to elicit some of that information. Um, you know, you're absolutely right. Um, each family dynamic is different and , uh, everyone has a different relationship to a cancer diagnosis, and some people are very private about that. Um, and it can be a little bit of a, a difficult subject to brush with a , a , a family member. Um, I think when you present the question to a family member , um, within the context of , uh, you know, this information can potentially protect you and protect future generations, it can sometimes change , um, individual's willingness to talk about it when they know that it could have a larger impact. So I think, you know, when I've spoken to patients about getting this information from my family, it's, it's, you know, asking, you know, aunt Betty, Hey, listen, I I understand you , um, had a cancer diagnosis some years ago. Um, I know this is information that, you know, you may, may not wanna bring up again, but it's information that could be really important to me. Um, as I , uh, gather information for evaluation for hereditary cancer and it's information that could protect me from cancer in the future, would you be willing to, to share a few more details with me? Um, so I think, you know, like I said, when it's, when it's wrapped up,
Speaker 2:<laugh> Yeah , that's a great way to ask that question.
Speaker 3:Yeah. Yeah. When you frame it as, as, as their sharing of that knowledge can help protect other family members, I think it, it tends to shift things a little bit.
Speaker 2:So one of the, I think what I've always heard, and correct me if I'm wrong mm-hmm . That the best way after you kind of start the conversation mm-hmm . The takeaways that you wanna have to bring to your doctor would be mm-hmm . The type of cancer that someone had mm-hmm <affirmative> . The age in which they were diagnosed.
Speaker 3:Yeah. So, so, so most important , um, you wanna know which family members , uh, had a cancer diagnosis, what the ages that they were diagnosed with cancer, that's really key. Um, and then we'd like to know what the age that they passed away, if they've passed on , um, that's the, the most important there. And ideally, we , we want three generations. Um, your , your current generation, your parents' generation, and your grandparents' generation. If you can get all three generations there , um, if you can get even more information beyond that , um, we , we'd love to know if , if you know, the particular pathology of the cancer , um, if it was for instance, with breast, if it was in both breast or one breast , um, if it's a prostate cancer, if you happen to know the Gleason score, all of those extra bits of , of details are always gonna be helpful to us as well.
Speaker 2:So those , those answers typically right . That helps determine what your risk number is.
Speaker 3:It helps us determine if you'll formally qualify for genetic testing. All those little bits of information can , um, help you meet guidelines for , uh, for an indication for genetic testing. And from that, then it's a question of , uh, uh, you know, if you meet those guidelines, then we can typically get insurance coverage for you. Um, the one thing I I wanna sort of point out , um, which may be a little controversial, but all of these details about your family history, again, are with an effort to, to to know if you meet the guidelines and if we can get insurance coverage for your testing. But if you have a suspicion of, of some cancers in your family, and you're not able to formally confirm them , um, even if you don't meet guidelines, you can still pursue this testing. Uh, you may just end up having to pay out of pocket for the testing because we can't , uh, formally check off those boxes to get your insurance to cover it. Um, but you can still pursue this testing, and it's, these days you're looking at about, you know, 2, 250, 300 $50 out of pocket if you wanna just pay for it out of pocket . Um, now that's, you know , we don't want any person off the street to, to go through this. It's certainly if you, if there's a suspicious family history , um, even if you can't confirm it.
Speaker 2:So let's go back a little bit to, yeah , we're having this conversation or at mm-hmm <affirmative> . That we're doing it at Thanksgiving. Mm-hmm . Mm-hmm <affirmative> . What happens if you actually can't have this conversation and within your family, or they don't, some , you don't have family members that you can really actually ask these questions, whether it's family dynamics or whatever it be . Now, how do you move forward if you have those suspicions?
Speaker 3:Right. So it's tricky, right? Because health records are protected and you can't obviously access them. Um , for, for HIPAA reasons , um, sometimes you can gather some information from public records. There's obituaries and death certificates. Uh , there's large public databases that you can search for those things. And sometimes you can gather a bit of information from, from those , um, sometimes , uh, family, friends or community members may have some additional information. Um , so you can gather it that way. Um , there's a , a website called family search.org that has like a historical documents search option that you can use. I've , I've heard of people going that route as well. Does that that answer your question, <laugh> ?
Speaker 2:Yes , for sure . I think that it's just important to note that not everybody's capable of asking those questions, right ? So mm-hmm <affirmative> . You can still advocate for your own health , even if you don't necessarily have access to all of that information. Right. And bringing this information forward to mm-hmm <affirmative> . Your genetic counselor mm-hmm <affirmative> . I think is really valuable to know your risk, because it , in my opinion, whether you, it's to, this is just solely my opinion, but knowing my risk has given me so many opportunities to not only feel control around cancer mm-hmm <affirmative> . Which can be so important for patients. Mm-hmm . Because I saw in the generations before me, when you don't have control, it's like the rugs getting pulled up from underneath you. Right . This allowed me to kind of feel like, okay, this can be on a certain time. That's not to say that there weren't hardships, or it wasn't difficult to navigate a diag hereditary cancer diagnosis, but at the same time, I felt like it was so powerful to be able to say, okay, now I can think about this differently, and maybe my circumstances can be different than the generation before me. Yeah . So , um, I really appreciate, sir , do you have any suggestions when it comes to organizing this kind of information? Um, like any apps or tools that you think would be important to utilize before coming in for an appointment?
Speaker 3:Sure, sure. You know, I mean, ultimately you can just write down all this information, and if you bring it to a genetic counselor, they have programs that they, that we use , uh, to , to triage all of this information. But , um, if you're looking for a particular tool , um, the CDC actually has some great recommendations. So if you just Google CDC Family History Tool , um, it , it , it pops up a page with , with several different recommendations , um, for like a, a formal tool to use for that. There are several apps that are, are family tree, family history apps that , uh, you can use as well. I, I just searched in , uh, the apps store and found several just at , at first glance. Um , but ultimately you don't need anything special. Like I said, it's, it's , we , we want three generations, your generation , um, you know, your siblings, their children , uh, your parents, their siblings and their children, and your grandparents, ideally , uh, we have all that information. And , um, your ancestry as well. If you happen to know , uh, where your , your ancestors , uh, came from, that's really helpful. Um, but yeah, if it , like I said, there's, there's certainly plenty of tools to gather that information , um, if needed, but
Speaker 2:Wonderful. Well, Jessica, thank that was really helpful, because I certainly know that when I was gathering this kind of information, I wish I was more organized about it. So thank you for that. And I know that for anybody listening, Tina's wish is going to include the link from the CDC and offer different tools at the bottom of this episode. So you can just let click the links down below to navigate that, and that might make it a little bit easier for you as you collect information. Jessica, I wanted to ask you one final thing when it comes to gathering this kind of information, so mm-hmm <affirmative> . Once somebody has gathered all this information, they've used one of the CDC recommended apps, or they've just gathered it all together, could you touch upon what the next steps would be as a genetic counselor and how someone might think about what they should do with that information?
Speaker 3:Right. So if you've gathered the information about your family history, the first step I would say is to speak to your physician or your gynecologist and say, listen, I, I have some family history of cancer that's concerning. Um, and either , uh, they will put you in touch with a genetic counselor themselves. Um, some, some physicians will order their own testing and then refer to a genetic counselor once there's a result. Um , but you can always go to our national website, which is the National Society of Genetic Counselors. It's nsgc.org. There's an icon on the first page that is , uh, to find a counselor. You click on the icon, you select cancer as the specialty, and you put in your zip code, and it will pull up all the genetic counselors in the area. So you can always reach out to a genetic counseling program , um, and just tell them that you have a family history of cancer, and they will , uh, evaluate you and , and , uh, again, assess all of those , uh, the , the family history to see if you're a good candidate for genetic testing.
Speaker 2:Wonderful. I know that Tina is gonna also include that one below . Right . That would be super helpful. But I wanted to ask you too mm-hmm <affirmative> . Could you also connect upon, let's say someone does test positive for mm-hmm <affirmative> . A high genetic mutation mm-hmm <affirmative> . And , um, could you just kind of go over the potential preventative measures regarding maybe risk reducing surgeries, but also ways to think about it and navigate mm-hmm <affirmative> .
Speaker 3:The , a new diagnosis? Well, sure. The first thing I wanna point out, which , um, you know, you didn't have a genetic counselor involved in your, your early diagnosis, but , um, having a diagnosis of a hereditary cancer syndrome , um, does not guarantee that you will get cancer, right? It , it means that you have an increased risk above the average person, so you're gonna have some extra screenings in your lifetime. Um, but this is all with an effort to help reduce , uh, your risk or, or , or, or have , uh, early diagnosis. This diagnosis does not define you. Uh, this is information, this just gonna help us take care better care of you over the years. Okay. Um, so I think that's the most important thing. I think early on, as you probably experienced, it can be a bit of a shock, but most people, after we talk to them after a few months or a few years , um, like, you feel empowered by this information and feel like, now that I have this information, I can be proactive. I can take some control over my life and my cancer risk. And it tends to be a , a very positive thing in their lives. They're able to help other family members , uh, have this awareness as well. So you're helping your family . So it's , it's good on multiple fronts. Um , now, in terms of the steps that you can take, which I, I you're very familiar with , um, very often it's about , um, extra screening. So for BRCA positive women , uh, we do start the breast MRIs at age 25 , um, and we include mammograms starting at 30. Um, so you're looking at , uh, high risk screening or the option to have your breast removed to reduce your breast cancer risk. We call that prophylactic mastectomy. Um, as well as , uh, um, with regard to , um, ovarian cancer risk, there's a very real recommendation to have your ovaries taken out at the appropriate age to , um, to avoid ovarian cancer risk there too. So it depends on what gene we're talking about, but these are typically , um, extra screenings or the options of risk reducing surgeries.
Speaker 2:That was a beautiful answer. Thank you so much for offering <inaudible> to our listeners. So, one of the things that I often think about as somebody who advocates for hereditary cancer, I often think about when I feel like sometimes when I talk on Instagram, I feel like I'm talking into the abyss, right? Jessica and I want somebody to be thinking about maybe as they gather for Thanksgiving, their family risk a little bit differently. And oftentimes I think about the person that maybe kind of knows what I'm saying, but fluffs it off thinking they don't have a risk. And I often, I've heard some crazy numbers thrown out about , um, how many people actually are walking around right now, no , with a genetic mutation and aren't aware of it somewhere around like 50% of the , uh, genetic mutation carriers aren't aware of their risk.
Speaker 3:We know for sure that we're missing so many people that , uh, have hereditary risk and are, are not getting referred or don't have that awareness. In general, about 10 to 15% of cancer is hereditary. So that's, that's a substantial number. Um, and certainly , um, hope that people have awareness about this so that they , um, we're capturing those that really do need to have this testing. You
Speaker 2:Know, what's funny is I, I wanna just as you say that, I often hear that in a reverse way from specialists , and that's like a positive way. I love that we're having this conversation because oftentimes when breast cancer or ovarian cancer mm-hmm <affirmative> . It's brought up, it's brought up in a way to say, for example, well, only 10% of these are actually hereditary cancer. Mm-hmm <affirmative> . So I feel like it minimizes the impact or the sense of urgency to know about hereditary cancer. Yeah , yeah . Yeah . But I know that many people are walking around right now not knowing their risk. Mm-hmm <affirmative> .
Speaker 3:Mm-hmm
Speaker 2:<affirmative> . So important, and thank you for that.
Speaker 3:And also to point out, actually more specifically in the gynecologic , uh, setting, that actually about 25% of , of ovarian cancer is hereditary. So it's an even higher chance for, for heredi uh , hereditary ovarian cancer.
Speaker 2:And I know many of our listeners already know, but if they don't, I think it's an important time to note that currently right now, there's no ovarian cancer screening to detect Yes . Ovarian cancer. So it's so important to No , your risk mm-hmm <affirmative> . Since that's not something that comes with your path .
Speaker 3:Yeah, a hundred percent.
Speaker 2:I, I wanted to know if you could maybe also touch upon, I know that I have the BRCA mutation, and that's one that's really known, but are there any other genetic mutations that people might not be aware of? Or maybe, you know, 20 years ago people were only screened for maybe BRCA mutations. Right . And now there's other known mutations. So are there any other genetic mutations to touch upon that maybe people weren't necessarily aware of? And it's something that we can start thinking about?
Speaker 3:Yeah, Christina , you bring up a really, really important point. For , for many years, especially in the, in the gynecologic cancer setting, we only tested brca. Um , but now we know that BRCA explains about 75% of hereditary ovarian cancer, but about 25% of ovarian cancer is actually due to mutations in a whole host of other genes. Um, we know of about 21 genes altogether that are all associated with hereditary gynecologic cancers. Um, about 19 genes altogether that are associated with hereditary breast cancers. Um, so these days, it's really important to consider having a panel of genes tested instead of just BRCA one and BRCA two.
Speaker 2:Wonderful.
Speaker 3:And typically these days, that's the standard of care. Most practitioners are ordering a panel instead of just BRCA one and two.
Speaker 2:That's great. Yeah. I think a lot of times when other women or men are discussing , uh mm-hmm <affirmative> . Genetic factors in their family, they might say like, oh, you know, my mom was tested for the BRCA gene and she doesn't have it. Therefore, you know, I'm, I'm , yeah . And I think that can be something that we need to really create awareness around. Um, so in my family, when we tested for the genetic mutation, we solely were testing for the BRCA mutation, because at that time, we knew that BRCA one was in my family. Mm-hmm <affirmative> . But we've talked about , uh, doing full genetic panels mm-hmm <affirmative> . Let's say that someone does a full genetic panel now and they have this information mm-hmm <affirmative> . What happens if, let's say a new genetic mutation is now a , we are now aware of what happens with that information?
Speaker 3:That's an excellent question. This comes up all the time. Um, so if a patient undergoes genetic testing for a full comprehensive panel, and it's a negative result, but there's still suspicious family history, I always encourage my patients to stay in touch with me and reach back out again in 2, 3, 4 years. And to recontact me at that time to see if there's been a discovery of any new , uh, breast cancer susceptibility genes for , uh, gynecologic cancer susceptibility genes , um, that may warrant , um, updated testing. Now, your own genes never change . So the previous testing is not going to change, but we may have additional genes that we can analyze in the future, if that makes sense. Yes .
Speaker 2:Makes total sense. I wanted to know also, you know, do you believe at this point, if you say you're sitting with a patient and you've just given them this really difficult news, is there anything that you would offer on how they, maybe, aside from what they physically need to do next mm-hmm <affirmative> . Regardless , say like, okay, now we've put a plan in place. Is there any kind of emotional support or something that you'd offer or seen in your experience as a genetic counselor that would be helpful to somebody if they have heard difficult news?
Speaker 3:Well, the first thing they should know is that they're not alone. Right. We know that Absolutely . This is, this is much more common than, than anyone's aware of. Um, so we very often will put our patients in touch with support groups. Yeah . Force is a good one. Bright pink is another good one. Um, uh, there's one called Stupid cancer.org that we love as well. Um , and certainly cancer.gov is, is a really good resource for , um, information that's the most UpToDate. Um, we like to send our patients there as well. I mean, there's a lot online that's good and bad, so you wanna be a little careful about what you find. But there are a lot of online communities , um, where you can find support. Uh , at our institution, we have in-person support groups as well for newly diagnosed breast, ovarian cancer patients, but also newly diagnosed with , um, hereditary cancer syndromes as well. Thank you . Um , so I think , yeah , yeah. Yeah. Um ,
Speaker 2:I think I'll touch upon too is that for me, I can say that I actually had a really hard time, and I wanna just note this, relating in a , a support group setting, there was denial within , even though, even though, let's say that I was really well aware of my deep history, it was not a shock to me that mm-hmm <affirmative> . I tested positive. It was something that I was really mentally prepared for in a way mm-hmm <affirmative> . 'cause I had seen so many people in my family get diagnosed mm-hmm <affirmative> . So that was slightly different. However, news was still something that felt like a dark cloud over my family. Mm-hmm <affirmative> .
Speaker 3:Mm-hmm .
Speaker 2:The time when I was diagnosed with a BRCA mutation, social media wasn't where it is today. I knew that one of the most helpful things for me has been finding community online and hearing one-to-one relationships with other women, specifically other women. When somebody has shared a story with me, it's shown me the way. So I wanna impart any listener who wants to reach out to anybody. If you, if my story maybe doesn't resonate with you, you can certainly reach out to me and I can help you find the right person since I am in this space. And that Tina's wish will link my Instagram below. But it's , please don't ever hesitate to send a dm mm-hmm . Create your own community and mm-hmm . To know that you definitely are not alone . And it does, even though it does feel like a black cloud, it won't be there forever. And yeah . I believe another thing that I will just touch upon is that I think a lot of hereditary cancer patients want to know what the timeline is. Mm-hmm <affirmative>. One of the most important things, like, when should I do this? By, when should I do that by mm-hmm <affirmative> . And I think that's, so we're talking about fertility and all mm-hmm <affirmative> . Difficult , uh, things that are naturally difficult to talk about on their own, right. Like mm-hmm <affirmative> . Tough , a tough topic in general. So imagine when you take on some type of hereditary cancer news , and that's super anxiety inducing. I think that having support matters and yeah . Knowing that you aren't alone matters For sure. Is there any , um, resources that genetic counseling offers when it comes specifically to fertility, since that does relate to gynecological cancer and planning?
Speaker 3:Oh, you , you bring up such a good point about fertility, and that's , um, as you know, you know, very often if you're going through this testing in your twenties, all of a sudden you're having to think about having this conversation with a future partner. And , uh, that there is a , a real timeline on some of those things. Um, and that's , uh, difficult for sure. Um, we specifically have an oncofertility program at NYU that we send our BRCA positive patients to, and they have nurse, nurse practitioners that walk patients through all the details of that. So we have sort of a formal recommendation in that way. Um, you know, I think the, there are other larger fertility groups. Um, resolve is a good one. Um, I think they have a specific , uh, um, hereditary cancer subgroup there as well. Um, you know, off the top of my head, I can't think of , um, like more specific things, but related to fertility. But certainly that's a conversation that I think should be had in a support group. Um, one other thing I wanted to kind of mention too, 'cause you , you bring up such important details in your process with all of this, is that , um, yeah, that initial diagnosis , uh, can be a shock. And , um, you know, I always like to try to point out to my patients that this hereditary cancer syndrome was decided the moment you were conceived. Right. It came through either the egg or the sperm that made you, this is not anything anyone has any control over. This is mother nature running its course, and it's not something that you caught or anyone's fault. Right. Um , and now we know , we just now understand that you have this hereditary cancer syndrome , and now we can use this information to , um, hopefully protect you in the future. So, you know, it's, it's certainly a big thing to grapple with, especially if you're doing it, you know, earlier in your life. Um, but the earlier, you know, the better anyway , so that we can get you set up with the appropriate screenings. Um, but you do make a really good point about the , the fertility issues. That's , um, that's a really difficult one to, to work out, and we certainly try to talk our patients through it as well.
Speaker 2:Well , so I have three kids and I often talk about Congratulations. My , thank you. I, I had my first daughter before the age of 30 because it was recommended that that could help reduce my risk. Mm-hmm <affirmative> . I'll be honest with you, because I did not have genetic counseling at the time mm-hmm <affirmative> . I really regret not knowing, and I share this openly all the time mm-hmm <affirmative> . That because I didn't have genetic counseling, I did not know all of my fertility options. And I wish, now looking back, I know that I'm on this path for a reason, but I would so often that I could have chosen IVF to select an embryo that tested negative for the BRCA one mutation, so that this could have ended with me. Yeah . And when I had genetic counseling after , uh, right before I had my breast removed mm-hmm <affirmative> . For me, I chose to, I felt like if I didn't do it for one child, I could not foresee, I know it's different for everybody. And this is just my personal experience mm-hmm <affirmative> . I felt like I couldn't go ahead and eradicate the gene for my future children mm-hmm <affirmative> . And so I often wonder, I know that my children have a 50% risk of inheriting this mutation and stay in this space, even though I've reduced my risk right now the most that I can currently with the guidelines that are offered. Mm-hmm . I find that one of the most empowering thing is to know that people are advocating right now for better options for mm-hmm <affirmative> . Better quality of life, better mm-hmm <affirmative> . Uh, just knowing that the needle's always moving in the direction of supporting not only science and research mm-hmm <affirmative> . But to support families so that once you know your risk, you're empowered to make a positive change. So I'd love to ask you , sorry, go ahead.
Speaker 3:You know, I'm sorry . I wanna jump into , 'cause I just realized I didn't answer your question very well the first time around. Um, I was thinking about fertility , um, with relationship to , uh, when the recommendations are to have your ovaries removed. So that always puts a , a really tight timeframe on everything. But you're absolutely right. We always discuss , uh, fertility options with our patients , uh, with regard to , um, being able to test embryos , uh, for, for future generations. Um, so that process is , is called pre pre-implantation genetic testing. Um, and we, we definitely discuss that with all of our BRCA positive patients. And like I said, we then direct them to a specific ONCOFERTILITY program. And there are many of them that exist , uh, throughout the us . Um , but that's really important that our patients be aware that they have that option , uh, to screen embryos for future, for future generations. So, I'm, I'm so sorry to hear that you weren't aware of that. 'cause that's a really, really important piece that we definitely talked to all our patients about .
Speaker 2:I'm really, really fortunate mm-hmm . That my kids have seen the transformation and the way that I've been able to not only step into myself fully, but mm-hmm <affirmative> . Create awareness, raise funds for cancer research. Yeah . Focus on all of the positives and stay in the space to make a change in this community. Mm-hmm <affirmative> . But this, you know, I didn't have this question prepared, but as our conversation unfolded, it's a really important one to touch upon, is I often think about those of us maybe that find out that we have a genetic mutation mm-hmm <affirmative> . Now we know this information and our kids are already here mm-hmm <affirmative> . And they're maybe older . I think it's a really important conversation. Maybe let's say that you're the one that knows of your genetic status mm-hmm <affirmative> . Or your mutation mm-hmm <affirmative> . Say , I know my mutation, my children are teenagers, let's say mm-hmm <affirmative> . When is it an important time to discuss this information with your family ? If we are talking about, you know, bringing up awareness, when is it something like , I'll ask that question, but I just also wanna say that as somebody who has young kids, my kids mm-hmm <affirmative> . I keep it simple for them. Now they know that I carry this mutation mm-hmm <affirmative> . And I don't scare them with that. They could too. My daughter that's older has that , that's 11 asked me the question specifically, when will I get tested. Mm-hmm . She started <affirmative> and I said, you know, with time technology and research changing Yeah . Uh , we don't know when that will be, but just know that you'll always be supported whenever that happens. And , um, we will always be able to trust doctors of when that time appropriate. And we're so lucky we know this information. So I , yeah . I just say that. So,
Speaker 3:So that's, oh , you bring up such a good point. This is <laugh> . This is so tricky and it's really, it's really family dependent, right? Mm-hmm <affirmative> . Um , and what you as parents feel like is the appropriate time to discuss this with your children. Um, and their understanding of, of basic genetics , um, and of things that are shared in a family, if they have an understanding of genes and inheritance, that's a great place to start. Um, but I think ultimately , um, you know, what I always encourage my patients is if , especially if you're BRCA positive and you, you have daughters, obviously it matters for your sons as well, but, but for your daughter specifically , um, we typically don't test , um, minors for hereditary cancer syndromes unless there's any risk for childhood cancers. Um , so they have to really be 18 to consider this testing anyway. Um, but for BRCA positive women, you know, the , the screening does start at age 25. So I tell my families that have, you know, teenage daughters that they should start to consider this testing sometime between age 20 and 25, but no later than 25. Um, because that's when we would have clinical management , um, starting for them. Um, but, you know, as a young person, you know, you may not wanna be burdened with this information. Uh, you , you know, don't you need to start having breast awareness at 20, but you don't formally need to do anything until 25. Um, so it's a , we want patients to have, you know, autonomy with this decision and to , um, make the decision on their own as an adult when they feel they're ready for it. But you're right. Like when, when you have that conversation with them , um, and I would, you know, really use your your children as a guide too, as like you said, your daughter has asked questions and, you know , um, help them guide that a bit too, when they seem like they're ready for it and when you're ready to talk to them about it in more detail. Um, and, you know, again, I always like to kinda refer back to the conversation about this is this is really just nature unfolding. This isn't anything we had a choice about. Um , we didn't have any control over
Speaker 2:It. I've been right there and say something because I , I think that I use my family story and I think that this is really important to note. So I just wanna say that, for example, in my family mm-hmm <affirmative> . My mom carried a lot of negatively charged emotions around feeling like she gave this to me, like she passed to me . Yeah . And she felt so , uh, burdened by that mm-hmm . That we kind of cut off the conversation. Like, I didn't wanna make her upset, she didn't wanna make me upset, therefore we didn't talk about it mm-hmm <affirmative> . And sometimes that had me feeling not supported, and it's not my mom's fault. I understand the journey that she was on. Right . But I see that and offer that often when I tell my story so that people have an understanding that your emotional healing and where you're at in this journey has a lot to do with how it does kind of trickle down to your children. And I have a beautiful, unique experience to be able to offer from one generation in the in-between to the next. And I, I think that all of us, I know my mom would love to know that now, I view her as incredibly supportive. We've transformed that, and it has to do with your openness and willingness mm-hmm <affirmative> . And I feel that's so important. And so to anyone listening that feels like, you know, this conversation may feel too heavy right now mm-hmm
Speaker 3:<affirmative> .
Speaker 2:Okay . To feel that and feel empowered and just know that taking control yourself, and then the way in which you heal emotionally, it doesn't mean you have to stuff it down and be the strong one, but that you can move with those emotions and know , and knowing that it's happening for you and I , that's kind of hard to hear, but in a way that you're able to move the needle and make changes. And I, I look forward to maybe seeing with my own children someday that we can eradicate this, that maybe mm-hmm <affirmative> . They test positive it ends with them. Right . I also believe that should my kids test positive, there could be, in my lifetime, an ability to hopefully see some science moving the direction towards the vaccine.
Speaker 3:Right, right .
Speaker 2:You know , that's controversial to say , but I miss somebody who's gone through all of these things. I would much rather see my children have a vaccine than indoor surgery. So , um, thank you so much for sharing your expertise with us today. If there's any, if you'd like to offer three takeaways and you hope someone remembers that came out of this episode, what would your three takeaways from today be?
Speaker 3:I'm gonna give you three takeaways, but I also just want to add one more thing too, what you're saying, because I , you , you , you're so articulate and you brought up so many good points about this journey with , uh, a diagnosis of this and a family and how it changes dynamics and , um, the, the guilt that family members may feel for passing something on to a , a , another family member. Um, you know, I always try to point out too , that genetics are what explain all of our biodiversity and , um, all the beautiful things that happen and all of the evolution and some of these changes that happen in our genes , um, help. And some of them hurt and, and many of them are just random. So, you know, with the , with the diagnosis of hereditary cancer syndrome, you know, it's unfortunately a genetic change that does pose risk, but it, again, it's, it's, it's just mother nature. It's just biology that's happening. And thankfully we have the technology to be able to understand this and then to be able to take , um, steps to help prevent some of those cancers. So that said , um, I also wanna give you the , the three takeaway points. Um, first and foremost, if you have any family history of ovarian cancer, young breast cancer, young colon cancer, pancreat, pancreatic cancer, or metastatic prostate cancer , um, those are the big red flags we're looking for. Uh , please talk to your doctor, your gynecologist, or find a genetic counselor to , uh, start the process of being evaluated for hereditary cancer. Um, the second one is that if you have a diagnosis of a hereditary cancer syndrome, this is not a guarantee that you'll get cancer in your lifetime. It just means that you have an increased risk. And I think that's a really important thing for people to understand. Um, and then also the final point, which you understand very well, is that , uh, knowing your risk can, at first be overwhelming, but ultimately will be empowering.
Speaker 2:Absolutely. I, I also, I just wanna say one of the biggest takeaways from today, you gave so many incredible points, but I never knew about pancreatic cancer being something that is just a red flag overall, no matter what the age is. So thank you so much for bringing that up today. That was a big takeaway from somebody who I feel like has a strong understanding of genetic, you know, counseling in general now with my experience. That was a big takeaway for me today. So thank you so much for all doing that . And also , you're welcome . Thank you . So a huge thank you to everybody listening as well, and we hope you walk away from today's episode , feeling empowered to start a conversation about health history with your family, because knowledge is power. And Jessica, thank you once again. Today was incredible.
Speaker 3:Thank you, Christina . And thank you for your story as well.
Speaker 1:For more information about gynecologic health, visit tina's wish.org/what to know . That's tina's wish.org/w H-A-T-T-O-K-N oow . And like, follow or subscribe wherever you listen to your favorite podcasts.