WEBVTT - Decoding Genetic Cancer Risk with Dr. Susan Domchek 0:00:17.130 --> 0:00:17.610 Pushkin. 0:00:24.170 --> 0:00:29.050 This show is not a substitute for professional medical advice, diagnosis, 0:00:29.210 --> 0:00:33.650 or treatment. It is for informational purposes. Please consult your 0:00:33.690 --> 0:00:36.729 healthcare professional with any medical questions. 0:00:37.970 --> 0:00:41.370 My mom was diagnosed with breast cancer in her fifties. Luckily, 0:00:41.409 --> 0:00:44.889 it wasn't complicated and she quickly went into remission. But 0:00:44.970 --> 0:00:48.449 this April, she was diagnosed with pancreatic cancer, one of 0:00:48.530 --> 0:00:51.849 the most lethal and hardest cancers to treat. It was 0:00:51.930 --> 0:00:57.210 devastating news. I assumed it wasn't a hereditary cancer. Most aren't, 0:00:57.850 --> 0:01:01.410 but some cancers can be caused by genetic mutations like 0:01:01.490 --> 0:01:05.690 the Brca one and Brca two genes, sometimes referred to 0:01:05.730 --> 0:01:09.090 as the Braca genes. These are genes that normally protect 0:01:09.090 --> 0:01:13.170 cells from damage, but when they don't work, cancerous skyrockets. 0:01:14.970 --> 0:01:18.130 Years ago, I was actually testing myself for Brocca mutations. 0:01:18.450 --> 0:01:20.450 I sent off blood work for genetic testing with a 0:01:20.490 --> 0:01:23.810 private company. I never got the results back, and I 0:01:23.850 --> 0:01:26.810 sort of forgot about it. That is until my mom's 0:01:26.810 --> 0:01:29.650 doctors tested her blood and found out that she carried 0:01:29.730 --> 0:01:35.370 a Broco one mutation. Her cancer had a genetic heritable element. 0:01:36.490 --> 0:01:38.890 I contacted the testing company that I had sent my 0:01:38.930 --> 0:01:43.530 blood work to years earlier, and I finally got those results. 0:01:44.010 --> 0:01:47.890 I was positive for a BRCA one mutation. Myself, I 0:01:47.890 --> 0:01:51.410 would have been livid. If I wasn't so scared. I'd 0:01:51.450 --> 0:01:54.330 already had my own battle with HPV related cancer in 0:01:54.370 --> 0:01:57.650 twenty twenty one, and as a pelvic surgeon, I know 0:01:57.810 --> 0:02:02.090 too well the realities of ovarian cancer. Within weeks, I 0:02:02.170 --> 0:02:06.570 had my ovaries and fallopian tubes removed. The wildest part. 0:02:07.210 --> 0:02:10.170 I have a PhD in genetics. I worked with some 0:02:10.250 --> 0:02:12.610 of the best vision icians and scientists in the world. 0:02:13.090 --> 0:02:16.810 I am an expert in ovarian cancer, yet this potentially 0:02:17.329 --> 0:02:22.010 fatal mutation when undetected in me for nearly sixty three years. 0:02:24.130 --> 0:02:27.649 I'm doctor Elizabeth Pointer. And this is Decoding Women's Health, 0:02:27.929 --> 0:02:31.690 a show from Pushkin Industries and the Atria Health Institute. 0:02:32.130 --> 0:02:36.130 This elevating the conversation about women's health in midlife and 0:02:36.169 --> 0:02:39.970 frankly challenging some of the status quote information out there. 0:02:40.649 --> 0:02:43.490 As a medical and cologist, I was really interested in 0:02:43.530 --> 0:02:46.609 breast cancer and I was seeing so many young women 0:02:46.850 --> 0:02:50.530 with breast cancer and a family history, so trying to 0:02:50.929 --> 0:02:54.610 help people not have to face these terrible situations that 0:02:54.609 --> 0:02:57.209 they found themselves in was really compelling to me. So 0:02:57.570 --> 0:03:00.410 it was really being able to see how devastating this 0:03:00.570 --> 0:03:03.489 can be in families and at the same time, how 0:03:03.489 --> 0:03:04.330 he doesn't have to be. 0:03:04.929 --> 0:03:08.490 That's doctor Susan Domchuk. She's the executive director of the 0:03:08.530 --> 0:03:13.010 Bachsor Center for Braka at the Universe Pennsylvania. She's an 0:03:13.010 --> 0:03:18.450 oncologist who specializes in research, treatment, and prevention of BRCA 0:03:18.570 --> 0:03:21.570 related cancers. I wanted to have her on the show 0:03:21.570 --> 0:03:25.090 to talk about the importance of knowing your family history, 0:03:25.130 --> 0:03:28.330 when you should get tested, who should get tested, and 0:03:28.410 --> 0:03:32.049 what to do if you, like me, discover you carry 0:03:32.049 --> 0:03:35.650 a BRACA mutation. I realize that this can be a 0:03:35.770 --> 0:03:39.290 really scary topic for people, but I hope you leave 0:03:39.330 --> 0:03:43.930 this conversation like I did, feeling empowered. There are so 0:03:44.050 --> 0:03:47.290 many ways we can be proactive about our health, and 0:03:47.410 --> 0:04:03.490 simply having more information can make a big impact. So 0:04:03.530 --> 0:04:05.610 what do women need to know about their family history? 0:04:05.650 --> 0:04:07.850 Is that three generations back? You know? Sometimes when I 0:04:07.850 --> 0:04:10.970 take a family history, people will say, Oh, my immediate 0:04:11.050 --> 0:04:13.210 family doesn't have any cancer, but I have some aunts 0:04:13.210 --> 0:04:15.530 and uncles that may have had cancer. So what do 0:04:15.610 --> 0:04:17.410 women need to know about their family history. 0:04:18.010 --> 0:04:21.410 So this is such an important point, is knowing your 0:04:21.450 --> 0:04:26.050 family history and knowing this in more detail than previously 0:04:26.130 --> 0:04:29.849 has been understood. It's important to know who had cancer 0:04:29.969 --> 0:04:33.849 at what ages, going back three generations, as we say, 0:04:33.930 --> 0:04:40.010 so looking at cousins and grandparents and more distant relatives 0:04:40.130 --> 0:04:43.409 is extremely important. The second thing is that it's not 0:04:43.570 --> 0:04:47.050 just breast cancer. For br SA one and ber C two, 0:04:47.650 --> 0:04:50.730 those stand for breast cancer one and breast cancer two 0:04:50.849 --> 0:04:55.050 because we're just not creative, so BRCA one and BRSA two. 0:04:55.570 --> 0:04:59.130 But when we speak about those two specific genes, which 0:04:59.170 --> 0:05:02.690 are the most common cause of reditary breast and ovarian cancer, 0:05:03.330 --> 0:05:06.409 the cancers that are seen are breast cancer, ovarian cancer, 0:05:06.849 --> 0:05:13.130 pancreatic cancer, and prostate cancer. So really having a complete understanding. 0:05:13.490 --> 0:05:17.529 In addition, as you're alluding to, people in past generations 0:05:17.570 --> 0:05:21.969 didn't necessarily talk about cancer, so finding out why Aunt 0:05:22.050 --> 0:05:25.330 Martha died at forty is really important even if the 0:05:25.370 --> 0:05:27.730 family didn't talk about it. So having an open conversation 0:05:27.810 --> 0:05:30.810 with your relatives about the family history. And by the way, 0:05:30.890 --> 0:05:33.969 genetics isn't just about BERC one and two. People die 0:05:34.010 --> 0:05:37.289 of colon cancer and they're in colon cancer susceptibility genes, 0:05:37.450 --> 0:05:41.850 there's early onset cardiovasclar issues. And finally, individuals who are 0:05:42.010 --> 0:05:45.450 Ashkenazi Jewish descent have a much higher chance of having 0:05:45.529 --> 0:05:48.850 a BRC one or two mutation. That risk is one 0:05:48.969 --> 0:05:52.250 in forty as opposed to one in two hundred in 0:05:52.250 --> 0:05:57.529 the general population. So knowing your ethnicity, knowing your family 0:05:57.650 --> 0:05:59.570 history are all really important. 0:06:00.089 --> 0:06:02.409 Let's tat a little bit about if a Broka wan 0:06:02.490 --> 0:06:04.690 or brock A two gene mutation is being passed down 0:06:04.770 --> 0:06:07.330 the father side of the family, it can be a 0:06:07.370 --> 0:06:10.010 little bit more challenging to look at, right because your 0:06:10.050 --> 0:06:12.650 father is not going to get ovarian cancer. He may 0:06:12.690 --> 0:06:15.369 get breast cancer, but it can make it a little 0:06:15.409 --> 0:06:18.170 bit more challenging to look at these family histories and 0:06:18.210 --> 0:06:20.810 interpret them. Can you just talk about that a little bit. 0:06:21.250 --> 0:06:23.729 In the past, people felt that it was only the 0:06:23.770 --> 0:06:26.929 mother's side that mattered, that it was only breast cancer 0:06:26.969 --> 0:06:30.529 that mattered when you were thinking about family history and 0:06:30.570 --> 0:06:33.489 the risk of having a genetic susceptibility. But none of 0:06:33.490 --> 0:06:36.050 that is true. You're really looking at both sides of 0:06:36.089 --> 0:06:40.729 the family. Fifty percent of all cancer genetic susceptibility genes. 0:06:40.930 --> 0:06:43.490 They will come from the dad, not the mom. If 0:06:43.490 --> 0:06:46.729 you line up every r C mutation carry in the world, 0:06:47.010 --> 0:06:50.250 half our men. And we can't emphasize this point enough 0:06:50.289 --> 0:06:53.570 since it's so often missed. So we can see families 0:06:53.650 --> 0:06:56.729 which are really male dominated in which there's a ton 0:06:56.849 --> 0:07:00.849 of early on set prostate cancer, and that is justice concerning. 0:07:01.650 --> 0:07:05.089 It's also important to recognize that family size matters. So 0:07:05.289 --> 0:07:08.210 if it's just your dad and he was an only 0:07:08.289 --> 0:07:12.090 child and his father was an only child, cancer susceptibility 0:07:12.130 --> 0:07:15.210 genes can be hidden in those types of families. I 0:07:15.250 --> 0:07:18.090 want to also emphasize, and this may be a different point, 0:07:18.090 --> 0:07:21.370 that we have lower and lower thresholds to do genetic 0:07:21.490 --> 0:07:24.689 testing all the time, so sometimes we get a little 0:07:24.690 --> 0:07:27.810 caught up in these issues of the exact family history 0:07:27.810 --> 0:07:31.010 that we meet for genetic testing. But really it's just 0:07:31.050 --> 0:07:35.690 a matter of knowing anything about your family history, including well, 0:07:35.930 --> 0:07:38.770 I have a tiny family on my dad's side and 0:07:39.170 --> 0:07:42.730 I am concerned about having a genetic susceptibility for whatever reason. 0:07:43.370 --> 0:07:46.250 We also recognize that not everybody knows their family history 0:07:46.330 --> 0:07:49.890 if they're adopted, or for instance, the Holocaust may have 0:07:49.970 --> 0:07:53.050 taken out an entire generation, so we have a much 0:07:53.090 --> 0:07:55.650 lower threshold for testing in those situations. 0:07:56.250 --> 0:07:59.369 When we talk about this generic genetic testing for cancer, 0:07:59.530 --> 0:08:01.130 what are we talking about in. 0:08:01.050 --> 0:08:03.890 The old days, if you will, you know, fifteen years ago, 0:08:04.250 --> 0:08:08.250 we would be testing for two genes, generally BARC one 0:08:08.330 --> 0:08:11.530 and br C two. But what we've learned since the 0:08:11.650 --> 0:08:14.730 nineties is that there are other genes that are also 0:08:14.810 --> 0:08:19.690 associated with breast cancer. One of those is pretty like beer, 0:08:19.770 --> 0:08:22.650 say one and two. It's called PALBI two. But there 0:08:22.650 --> 0:08:26.490 are some other genes, notably genes called CHECK two and ATM, 0:08:26.810 --> 0:08:30.810 which increase your risk of breast cancer only modestly. So 0:08:30.930 --> 0:08:33.330 with beer, say one and two, that lifetime risk is 0:08:33.410 --> 0:08:37.090 seventy percent, with check two it's about twenty to twenty 0:08:37.090 --> 0:08:40.370 five percent. So now when people get genetic testing, they 0:08:40.370 --> 0:08:43.850 are almost never tested for just two genes. They're tested 0:08:43.929 --> 0:08:47.370 for a panel of genes that will include not only 0:08:47.410 --> 0:08:50.250 beer say one and two, but other genes associated with 0:08:50.410 --> 0:08:55.410 breast cancer risk. There's colon cancer susceptibility genes as well. 0:08:55.650 --> 0:09:00.530 There's kidney cancer susceptibility genes. So in general, we send 0:09:00.569 --> 0:09:03.290 sort of a panel of genes that hits the most 0:09:03.290 --> 0:09:07.450 common cancers. The specific genes on those panels are looking 0:09:07.650 --> 0:09:11.330 for what we call a pathogenic variant otherwise and as 0:09:11.330 --> 0:09:15.650 a mutation in a gene that basically makes the protein 0:09:15.770 --> 0:09:18.890 not function and that's what increases the risk of cancer. 0:09:19.210 --> 0:09:21.050 And these genes that we're testing for are pretty much 0:09:21.050 --> 0:09:22.929 all what we call tumor suppressor genes. 0:09:22.970 --> 0:09:26.050 Correct. That's correct. So what we mean by that is 0:09:26.090 --> 0:09:29.490 that all of us are born with two copies of 0:09:29.530 --> 0:09:35.250 each gene and in general cancer sceptibility genes. Say, beer 0:09:35.370 --> 0:09:39.570 SA one is good. Beer C one actually helps ourselves 0:09:39.689 --> 0:09:43.650 repair a specific type of DNA damage called bubble strand 0:09:43.689 --> 0:09:46.450 and break. So BERSA one and ber C two are 0:09:46.490 --> 0:09:49.729 good for us. They help us. It's only when we 0:09:49.850 --> 0:09:53.410 lose them where you are at increased risk or cancer. 0:09:55.370 --> 0:09:57.010 I just want to pause for a moment here and 0:09:57.050 --> 0:10:01.010 walk you through this. These concepts can feel so overwhelming 0:10:01.170 --> 0:10:03.890 and frankly terrifying for women who are trying to better 0:10:03.970 --> 0:10:07.770 understand their family history and their own risk. So you 0:10:07.890 --> 0:10:11.610 might have been surprised to hear doctor Domchek say Brako 0:10:11.689 --> 0:10:14.850 one and Broko two are good for us. But she's right, 0:10:15.450 --> 0:10:19.530 Broca genes aren't cancer causing genes. They're cancer preventing genes. 0:10:20.010 --> 0:10:23.330 They're actually helpful. They protect us by fixing damaged DNA. 0:10:24.490 --> 0:10:27.130 Like doctor John Chuck said, we're all born with two 0:10:27.170 --> 0:10:30.690 copies of those genes. People with Brocca mutations have a 0:10:30.689 --> 0:10:33.969 broken copy of the gene. Most of the time, that 0:10:34.050 --> 0:10:37.010 one working copy is enough to keep you safe, but 0:10:37.090 --> 0:10:40.290 if something happens to damage or turn off that second 0:10:40.410 --> 0:10:45.170 working copy, then you don't have any protection. When working properly, 0:10:45.370 --> 0:10:49.890 these genes literally suppress tumors. You can imagine. It's almost 0:10:49.929 --> 0:10:52.729 like having security guards that keep cancer from getting in. 0:10:53.490 --> 0:11:00.570 Only when you lose both guards can cancer develop. Briefly, 0:11:00.610 --> 0:11:03.970 what can you tell us about the biology of inherited cancers. 0:11:03.970 --> 0:11:06.130 They're a little different. They present a little bit earlier, 0:11:06.250 --> 0:11:08.650 so people a little bit younger when they're diagnosed, and 0:11:08.689 --> 0:11:10.370 they may have a little bit of a better outcome 0:11:10.410 --> 0:11:11.530 to treatment. Correct. 0:11:11.689 --> 0:11:13.930 Yeah, it's a great point, and this is where not 0:11:14.250 --> 0:11:18.770 all genetic susceptibility is equal. BRSA one is different than 0:11:18.850 --> 0:11:22.370 Chuck two. And the reason I emphasize this is because 0:11:22.410 --> 0:11:26.089 when we lump it all together, patients can make decisions 0:11:26.130 --> 0:11:28.010 that may not make sense for them. So it's really 0:11:28.050 --> 0:11:32.530 important to get gene specific information. BRSA one and two 0:11:32.770 --> 0:11:36.809 related cancers generally do occur earlier. The median onset of 0:11:36.850 --> 0:11:40.370 the cancers is in the early forties. But you're right 0:11:40.410 --> 0:11:43.170 that these tumors for BARSA one and two do seem 0:11:43.210 --> 0:11:46.650 to be more sensitive to chemotherapy, and so specifically, an 0:11:46.689 --> 0:11:50.570 ovarian cancer outcome is better with ovarian cancer if you 0:11:50.650 --> 0:11:53.650 have a br SA one art mutation. In breast cancer, 0:11:53.770 --> 0:11:57.370 it's kind of complicated because of the different types of 0:11:57.689 --> 0:12:01.290 breast cancer, but in ovarian cancer that prognosis is clearly 0:12:01.450 --> 0:12:04.209 better if you have a BRSA one on mutation. So 0:12:04.250 --> 0:12:07.570 the reason people with cancer should be tested is because 0:12:07.610 --> 0:12:10.570 we have drugs available that we can give them that 0:12:10.650 --> 0:12:15.010 will make their cancer do better. Every single person with 0:12:15.130 --> 0:12:19.770 ovarian cancer needs to have testing. Every single person with 0:12:19.809 --> 0:12:25.090 pancreatic cancer, with metastatic prostate cancer. That's enough. We don't 0:12:25.130 --> 0:12:27.690 have to think for a minute about family history. Those 0:12:27.730 --> 0:12:33.050 are sufficient for people to get genetic testing for breast cancer. Absolutely, 0:12:33.090 --> 0:12:36.689 anyone under fifty and more recently sort of anyone under 0:12:36.770 --> 0:12:40.930 sixty five is a candidate for genetic testing, and anyone 0:12:40.970 --> 0:12:43.929 with a certain type of breast cancer called triple negative 0:12:43.970 --> 0:12:47.929 breast cancer should get genetic testing. We should not leave 0:12:48.050 --> 0:12:51.410 a single person in those categories behind. They should all 0:12:51.410 --> 0:12:55.490 get genetic testing. At big academic medical centers. We're doing 0:12:55.530 --> 0:12:57.970 better and better. We keep track of our metrics, and 0:12:58.010 --> 0:13:00.650 we're at over eighty percent in any of those, but 0:13:00.770 --> 0:13:05.410 across the country those numbers are terrible. For ovarian cancer, 0:13:05.450 --> 0:13:09.290 it's under fifty percent, and it's hard to imagine why 0:13:09.330 --> 0:13:14.010 that is, because it actually helps us make decisions about therapy. 0:13:14.450 --> 0:13:16.650 So if anyone out there that's listening, if you fall 0:13:16.689 --> 0:13:18.890 into any of those groups, or any of your family 0:13:18.890 --> 0:13:21.930 members DOE, you absolutely should get genic testing. 0:13:23.130 --> 0:13:29.290 Let's face it, getting a cancer diagnosis is devastating, but 0:13:29.330 --> 0:13:33.530 a better understanding of any underlying genetic cause can significantly 0:13:33.650 --> 0:13:39.730 improve treatment outcomes coming up. If genetic testing can save lives, 0:13:40.170 --> 0:13:44.690 why are we all getting it done? Decoding women's health 0:13:44.689 --> 0:13:58.730 will be right back. Welcome back to Decoding women's health. 0:13:59.130 --> 0:14:01.849 You might be surprised to learn, as I was, that 0:14:01.890 --> 0:14:05.250 even when genetic testing is offered, many people are slow 0:14:05.250 --> 0:14:08.370 to take it up. Doctor Susan Donchek has been engaged 0:14:08.370 --> 0:14:10.370 in some really important work around this. 0:14:11.210 --> 0:14:15.890 Increasingly, there's discussion about what we call population screening, which 0:14:15.970 --> 0:14:18.770 is offering everybody if you will be or s one 0:14:18.809 --> 0:14:22.410 and two testing. The complications with that is that it's 0:14:22.490 --> 0:14:27.090 not entirely clear how many people really want to do 0:14:27.170 --> 0:14:30.970 that right now, and also how we actually will get 0:14:30.970 --> 0:14:35.570 it done. We've done some studies to offer genetic testing 0:14:36.010 --> 0:14:39.210 to if you will, anyone who's of Ashkenazi Jewish descent. 0:14:39.730 --> 0:14:42.490 The uptake wasn't as much as we thought. We did 0:14:42.490 --> 0:14:45.530 a study a few years ago testing about four thousand 0:14:45.610 --> 0:14:47.930 individuals in that situation, and they didn't have to have 0:14:47.970 --> 0:14:51.050 any family history. We thought it would take about three 0:14:51.090 --> 0:14:54.010 months to test four thousand people in for cities, and 0:14:54.050 --> 0:14:56.810 it took us three years. And other data have really 0:14:56.810 --> 0:15:01.050 suggested that it matters if your doctor recommends this to you. 0:15:01.410 --> 0:15:03.570 And this is why this is so important to get out. 0:15:03.570 --> 0:15:06.730 We need to educate patients people out there in the 0:15:06.770 --> 0:15:10.330 community about the potential risk, and we also need to 0:15:10.450 --> 0:15:13.770 educate for to have a really low threshold to do 0:15:13.890 --> 0:15:17.890 genetic testing if there's a family history or again if 0:15:17.890 --> 0:15:20.970 people are of Ashkenazi Jewish to sent we're just going 0:15:21.010 --> 0:15:24.850 to the electronic health record and pulling out individuals who've 0:15:24.850 --> 0:15:27.610 told their providers that they have a family history and 0:15:27.690 --> 0:15:31.450 sending them messages saying you should consider getting genetic testing. 0:15:31.890 --> 0:15:35.450 And just in our preliminary data, just that simple effort, 0:15:35.810 --> 0:15:39.450 twenty five percent of people schedule appointments to get genetic testing. 0:15:39.570 --> 0:15:42.050 So people are interested, they just don't know about it. 0:15:42.490 --> 0:15:46.410 I think that we can use simple solutions of asking 0:15:46.450 --> 0:15:49.130 people at the right time and then immediately referring them 0:15:49.130 --> 0:15:52.930 to genetics. Our primary care doctors have a lot to do, 0:15:53.410 --> 0:15:56.890 so this idea that we can expect them to also 0:15:57.330 --> 0:16:01.050 do a great screening for these things and get people tested. 0:16:01.930 --> 0:16:03.890 It might happen, but it's a lot we need to 0:16:03.930 --> 0:16:05.170 help our primary care doctors. 0:16:05.410 --> 0:16:08.330 About what age did you start to consider genetic testing? 0:16:08.610 --> 0:16:10.010 Twenty two to twenty five. 0:16:10.850 --> 0:16:14.890 There's really two reasons to test. The first reason is 0:16:14.930 --> 0:16:18.410 because you're going to change your medical decision making, and 0:16:18.970 --> 0:16:22.330 for most cancer susceptibility genes, you know, we don't start 0:16:22.370 --> 0:16:26.050 doing anything different medically until age twenty five. That's when 0:16:26.050 --> 0:16:30.410 we start. For instance, restmeris for BERC one mutation cares. Now, 0:16:30.410 --> 0:16:32.970 there are sometimes where there's a particularly early onset in 0:16:33.010 --> 0:16:35.730 the family where we would potentially do it earlier, but 0:16:35.810 --> 0:16:38.570 in general, we have twenty five in our heads. There's 0:16:38.610 --> 0:16:42.090 another reason to get genetic testing for BRSA one two 0:16:42.130 --> 0:16:46.370 and other cancer sceptibility genes, and that's for reproductive decision making, 0:16:47.050 --> 0:16:51.290 and that takes on two different pieces. One pre implantation 0:16:51.450 --> 0:16:55.050 genetic testing, So this is when individuals go through in 0:16:55.210 --> 0:17:00.370 vitro fertilization, screen the embryos and only reimplant the embryos 0:17:00.650 --> 0:17:04.010 that don't have the BRC one or BRC two mutation. Well, 0:17:04.050 --> 0:17:06.970 some people are not interested in this, but this technology 0:17:07.330 --> 0:17:10.730 is available. So there are times that you know, women 0:17:10.770 --> 0:17:14.130 are interested in starting their families before their twenty five 0:17:14.690 --> 0:17:19.130 So that's another reason to consider screening. In addition, several 0:17:19.290 --> 0:17:21.530 of the genes that we're talking about, and I'll give 0:17:21.570 --> 0:17:25.649 br C two as an example. In rare situations, a 0:17:25.730 --> 0:17:29.170 baby can inherit two bad copies of ber C two, 0:17:29.330 --> 0:17:32.649 one from each parent, and when that occurs, there's a 0:17:32.690 --> 0:17:35.169 twenty five percent chance that the baby will have a 0:17:35.210 --> 0:17:39.449 condition called fincnianemia, which is a serious medical condition. So 0:17:39.490 --> 0:17:42.649 these are all reasons to consider genetic testing sort of 0:17:42.650 --> 0:17:44.969 at the time you're starting to think about your family 0:17:45.450 --> 0:17:48.290 or medical decision making, and so that matters for the 0:17:48.330 --> 0:17:50.929 men too, because in general, we don't really start much 0:17:51.010 --> 0:17:54.530 for men in terms of their personal screening until closer 0:17:54.570 --> 0:17:58.330 to forty, but when they're ready to start having their children. 0:17:58.530 --> 0:18:00.970 If one of their parents has a BERC mutation, then 0:18:01.129 --> 0:18:04.530 we certainly talk about screening before they start having their kids. 0:18:04.730 --> 0:18:07.169 So I think it's really important that people know that 0:18:07.290 --> 0:18:10.010 even if their doctor doesn't bring it up, that it 0:18:10.129 --> 0:18:12.650 still may be real to them, and that they can 0:18:12.690 --> 0:18:15.409 either talk to their doctors about it they're gynecologists, a 0:18:15.490 --> 0:18:19.609 primary care doctor, or see a genetic counselor for testing. 0:18:20.050 --> 0:18:23.050 There are also direct to consumer approaches to genetic testing, 0:18:23.090 --> 0:18:26.850 where people can just go online and order the tests themselves. 0:18:26.890 --> 0:18:29.930 There are pros and cons to those approaches, but right 0:18:29.970 --> 0:18:32.530 now you know it's all hands on deck. There are 0:18:32.609 --> 0:18:35.129 multiple ways to get this testing done, and we should 0:18:35.330 --> 0:18:40.850 make sure that people know about all of them. 0:18:41.170 --> 0:18:44.249 I took the direct to consumer route myself. There are 0:18:44.290 --> 0:18:47.050 plenty of companies that offer easy to use at home 0:18:47.090 --> 0:18:49.210 testing kits that you can just mail in and get 0:18:49.210 --> 0:18:53.450 the results online. The benefit is that it's quick, easy, 0:18:53.570 --> 0:18:57.490 and relatively inexpensive. The problem is is that you don't 0:18:57.490 --> 0:19:01.250 have guidance and support necessarily that comes with getting tested 0:19:01.290 --> 0:19:04.730 with a personal physician. So if you go this route, 0:19:04.930 --> 0:19:09.770 I strongly advise connecting with the genetic counselor beforehand. Even 0:19:09.810 --> 0:19:11.970 if you think that you're prepared to learn that you 0:19:12.050 --> 0:19:16.170 carry a genetic mutation, actually getting that result can still 0:19:16.250 --> 0:19:20.410 pack a huge emotional punch. Having an expert in your 0:19:20.530 --> 0:19:23.770 corner helps you understand what the result means and what 0:19:23.890 --> 0:19:27.810 steps to take next. The National Society of Genetic Counselors 0:19:27.850 --> 0:19:30.649 has a registry where you can find professionals to guide you. 0:19:31.330 --> 0:19:34.609 Having said that, in an ideal world, everyone would be 0:19:34.650 --> 0:19:38.810 guided through genetic testing in person by a physician they trust, 0:19:39.369 --> 0:19:41.330 but one of the barriers to this sort of testing 0:19:41.369 --> 0:19:46.410 for many patients is cost. In some cases, patients can 0:19:46.450 --> 0:19:49.570 get the testing paid for by their insurance. The National 0:19:49.609 --> 0:19:53.490 Comprehensive Cancer Network provides guidelines for testing that include the 0:19:53.490 --> 0:19:57.330 big factors that we've discussed today, If you're of Ashkenizi 0:19:57.410 --> 0:20:00.570 Jewish descent, if you've had blood relatives with a confirmed 0:20:00.609 --> 0:20:03.810 cancer causing gene variant, or if you or a family 0:20:03.850 --> 0:20:07.010 member has a personal history of a rare or multiple cancers. 0:20:08.490 --> 0:20:11.570 I asked doctor Domchek, what about patients are women who 0:20:11.609 --> 0:20:13.210 don't fall into these categories. 0:20:13.650 --> 0:20:18.210 If people don't meet those guidelines at most labs, there 0:20:18.250 --> 0:20:23.050 are still self pay options that cost about three hundred dollars. 0:20:23.690 --> 0:20:26.690 But I will say that navigating this can sometimes be 0:20:26.770 --> 0:20:30.290 frustrating and complex for patients. So I think that when 0:20:30.330 --> 0:20:33.570 people meet clear criteria for JANK testing, everything goes through 0:20:33.730 --> 0:20:36.970 very well. If people are more on the bubble, self 0:20:37.010 --> 0:20:39.770 pay options are actually going to be cheaper than if 0:20:39.810 --> 0:20:41.810 you will going through insurance where it may not be 0:20:42.129 --> 0:20:42.770 covered at. 0:20:42.650 --> 0:20:45.050 All, for people who may not be able to afford 0:20:45.050 --> 0:20:47.449 the three hundred dollars. Are you aware of any support 0:20:47.490 --> 0:20:49.010 services for these individuals? 0:20:49.770 --> 0:20:54.250 Yes, there are, and oftentimes the labs have held there 0:20:54.250 --> 0:20:57.530 are various programs that exist. It does get a little 0:20:57.570 --> 0:21:01.050 bit complicated if people do not have insurance at all. 0:21:01.290 --> 0:21:03.850 It can be tricky because even if we could get 0:21:03.890 --> 0:21:06.970 someone free testing, we're not able to then get them 0:21:07.010 --> 0:21:09.889 the medical care that they need. So that is a 0:21:10.010 --> 0:21:13.770 big gap right now. Is people who are completely uninsured. 0:21:14.210 --> 0:21:18.330 We really do struggle because even if we could test them, 0:21:18.690 --> 0:21:21.210 we would not really be able to care for them, 0:21:21.330 --> 0:21:25.890 and that doesn't feel great. So hopefully all insurance problems 0:21:25.890 --> 0:21:27.609 in the United States will be fixed and we won't 0:21:27.609 --> 0:21:29.129 have to worry about it. But I'm not going to 0:21:29.170 --> 0:21:30.490 hold my breath right now for that. 0:21:30.970 --> 0:21:33.649 So a lot of upside to genetic testing allowing you 0:21:33.690 --> 0:21:35.330 to do some planning, and we'll move into that in 0:21:35.369 --> 0:21:35.850 just a moment. 0:21:36.210 --> 0:21:41.770 Any downsides, Sure, this is information that can be extremely 0:21:41.810 --> 0:21:45.929 difficult to learn. I had a physician once tell me 0:21:46.369 --> 0:21:49.770 she felt that the genetic testing both saved your life 0:21:49.770 --> 0:21:51.689 had ruined it. And she didn't really mean ruin it, 0:21:51.730 --> 0:21:54.770 but she just at dealing with this information making the 0:21:54.770 --> 0:21:57.730 decisions she had to make well really difficult. And so, 0:21:58.369 --> 0:22:00.490 first of all, we always like to emphasize that when 0:22:00.530 --> 0:22:03.810 you get your genetic test result back, if it's positive, 0:22:04.250 --> 0:22:06.850 that was always there. You were positive from the time 0:22:06.850 --> 0:22:09.050 you were born. You know, you didn't change on a 0:22:09.129 --> 0:22:11.649 dime day to day. We also like to talk about 0:22:11.690 --> 0:22:14.609 lifetime risks. So when we talk about lifetime risk of 0:22:14.690 --> 0:22:17.650 cancer as highly seventy percent, that's not your risk tomorrow, 0:22:17.890 --> 0:22:20.290 that's your risk over your whole life. But you can 0:22:20.330 --> 0:22:25.010 imagine that feeling getting that information is really overwhelming, and 0:22:25.050 --> 0:22:28.250 so our job is to try to counsel people through it. 0:22:28.369 --> 0:22:30.930 To focus on the immediate next steps of what needs 0:22:30.970 --> 0:22:35.210 to happen. Currently, the only effective strategy for a varying 0:22:35.330 --> 0:22:40.609 cancer risk reduction is early surgery, so premenopausal to me 0:22:40.730 --> 0:22:43.369 removable of your ovaries before you or otherwise we go 0:22:43.410 --> 0:22:48.290 into menopause, and that has significant issues for women. We 0:22:48.330 --> 0:22:50.330 try to get people through it as best we can, 0:22:50.690 --> 0:22:52.770 but it's still fun to have to consider these things 0:22:53.210 --> 0:22:57.730 and then deciding whether to continue to screen or do astectomy. 0:22:58.050 --> 0:23:01.449 That can be challenging for parents to get tested. We 0:23:01.490 --> 0:23:05.129 see a lot that when individuals get tested that have children, 0:23:05.530 --> 0:23:09.689 they can feel very sad and sometimes guilty about the 0:23:09.730 --> 0:23:12.929 potential that they've passed this belong to their children. Of course, 0:23:13.010 --> 0:23:15.450 we all pass along good and bad genes to our kids. 0:23:15.490 --> 0:23:17.170 In this case, you just kind of know what it is. 0:23:17.450 --> 0:23:19.650 But these are real issues that we know that people 0:23:19.770 --> 0:23:22.170 struggle with, and our job is to try to help 0:23:22.170 --> 0:23:25.450 people through this time and really focus on the fact 0:23:25.450 --> 0:23:28.530 that this information can be life saving, but at the 0:23:28.530 --> 0:23:31.530 same time acknowledge the grief that's involved in having to 0:23:31.530 --> 0:23:32.650 make these decisions. 0:23:33.170 --> 0:23:36.090 So I'm diagnosed with the bracket one mutation in twenty 0:23:36.090 --> 0:23:40.050 twenty five, what does taking action look like as a 0:23:40.090 --> 0:23:42.170 younger woman, as a primin apausal woman. 0:23:42.810 --> 0:23:46.369 Yes, and so in twenty twenty five, there are clear 0:23:46.490 --> 0:23:50.770 things that women can do, but we are actively hoping 0:23:51.010 --> 0:23:53.850 for better options. So right now, at twenty five, all 0:23:53.930 --> 0:23:56.770 someone needs to do is get a breast MRI once 0:23:56.770 --> 0:24:00.010 a year. The risk of developing breast cancer prior to 0:24:00.090 --> 0:24:02.450 age thirty when you're a twenty five year old beer 0:24:02.490 --> 0:24:05.170