Speaker 1: Genetic testing in medicine has been a huge force for good.
Speaker 1: But what happens when your test results come back with
Speaker 1: bizarre findings and your doctor advises you to take immediate
Speaker 1: radical steps. They said, we really need to see you
Speaker 1: in and they came and said you have to have
Speaker 1: your stomach remy and I went what they said, Yes,
Speaker 1: you need to immediately, you know, And it kind of
Speaker 1: just sounded like nonsense of me. Honestly, I blew it
Speaker 1: off and I was like, Okay, well, you know, I'm
Speaker 1: not paying attention to that. Diane Dillon got the shock
Speaker 1: of her life when she found out she had a
Speaker 1: rare genetic mutation that doctors told her can cause stomach cancer,
Speaker 1: a terrible, hard to detect form of the disease that
Speaker 1: can quickly turn fatal. Her son might had it too.
Speaker 1: No one in the family had ever heard of the
Speaker 1: disease or the gene when they found out they were carriers.
Speaker 1: In the fall of that's not surprising. It's extremely rare.
Speaker 1: There are only a few hundred families with the mutation
Speaker 1: who have been studied by researchers. But the doctors were
Speaker 1: telling both Mike and Diane they needed to have their
Speaker 1: stomachs removed urgently. Welcome to Prognosis, Bloomberg's podcast about the
Speaker 1: intersection of health and technology and the unexpected places it's
Speaker 1: taking us. I'm a healthcare reporter, but this story didn't
Speaker 1: come from the usual sources. I learned about it through
Speaker 1: my own family grape Vine. Mike is married to my
Speaker 1: first cousin, Kim. My dad heard from his brother, that's
Speaker 1: my uncle, that Mike was going to have his stomach
Speaker 1: removed because of a gene he had inherited. When I
Speaker 1: heard that from my dad, I thought, that's just weird.
Speaker 1: Mike's in his thirties. He's entirely healthy. He and Kim
Speaker 1: are both fit and active. They have two adorable kids,
Speaker 1: a boy and a girl. This to me did not
Speaker 1: sound right, So my and I started emailing and researching,
Speaker 1: and it turned out this was legit, but it was
Speaker 1: also at the cutting edge of medicine, and that's a
Speaker 1: really scary place to be. I went to visit them
Speaker 1: in South Florida in March. I was coming from Minnesota,
Speaker 1: where there was two ft of snow on the ground.
Speaker 1: Suddenly it was seventy degrees and sunny. I was meeting
Speaker 1: Mike's mom Diane for the first time. Hey, it's so
Speaker 1: good to see you too. Brought down this cold weather.
Speaker 1: This cold weather, how I'm Michelle. Nice to meet you.
Speaker 1: It is beautiful here. What are we talking about the
Speaker 1: cold weather? Yea, we love to get piss Believe me,
Speaker 1: this is this is the last raw. It didn't take
Speaker 1: long for the seriousness of the genetic findings to hit home.
Speaker 1: Diane had been tested to see if the breast cancer
Speaker 1: she survived fifteen years earlier had a genetic cause. It did,
Speaker 1: but it wasn't the one that she expected it and
Speaker 1: it wasn't only linked to breast cancer. Mike had also
Speaker 1: gotten tested. He was driving when he got the news
Speaker 1: that he had it too. He talked with Kim, his wife,
Speaker 1: then he called his parents. So I was pretty traumatic
Speaker 1: for them, For me, for everybody I think I compared,
Speaker 1: it was like a bomb was shopped on our family.
Speaker 1: You know. Everything that I had read to that point
Speaker 1: was that you pretty much immediately have to have this
Speaker 1: surgery done, and I was pretty much preparing myself for that.
Speaker 1: It's important to understand why there's such an extreme reaction
Speaker 1: to this mutation. It's in a gene called c d
Speaker 1: H one, the genes responsible for making a protein that
Speaker 1: helps cells stick together. If you have this mutation, cancer
Speaker 1: cells don't clump into a tumor that doctors can find. Instead,
Speaker 1: they form little independent clusters of cancer. I saw a
Speaker 1: picture that reminded me of the lingering seeds that you
Speaker 1: find in a supposedly seedless watermelon. There can be dozens
Speaker 1: of them, all in the stomach. It's called hereditary diffuse
Speaker 1: gastric cancer. So now you have microscopic cells that can
Speaker 1: shoot off into your system and start lodging in different
Speaker 1: organs in the body, your lung, your liver, the parenteal lining,
Speaker 1: which is the lining around your abdominal cavity, and at
Speaker 1: that stage it's what we call stage four or metastatic
Speaker 1: stomach cancer. That was Vivian Strong, a surgeon a Memorial
Speaker 1: Sloane Cattering Cancer Center and an expert in stomach cancer.
Speaker 1: When Mike learned he had the mutation in he was
Speaker 1: told the lifetime risk of developing stomach cancer can be
Speaker 1: as high as seventy or eight That's why surgery is
Speaker 1: often considered a no brainer eliminate the risk. But those
Speaker 1: numbers may be misleading. They're based on people with the
Speaker 1: family history of stomach cancer. But the field is constantly
Speaker 1: evolving and improving. Now researchers are finding the mutation more often,
Speaker 1: and they suspect the risk of getting cancer for those
Speaker 1: without a family history may not be anywhere near but
Speaker 1: still high enough to warrant concern. That's the Dylan's conundrum.
Speaker 1: What should Mike and Diane do. Sophia Stadler, a medical
Speaker 1: oncologist and genetic counselor at Sloan Cattering, knows the uncertainty well.
Speaker 1: And so those are the numbers that we have, but
Speaker 1: those are based on families who have a history of
Speaker 1: hereditary hereditary the fuse gast cancer. So what about those
Speaker 1: without a family history. We just don't have enough data
Speaker 1: to know what those are. They may very very well
Speaker 1: be lower. But how low is that risk? Is the
Speaker 1: risk solow that it does not warrants struck to me?
Speaker 1: The Dylan family was completely unprepared to learn they had
Speaker 1: this mutation. No one had mentioned c d H one.
Speaker 1: It's called an incidental finding when doctors are looking for
Speaker 1: one thing but come up with something else. Mike's mom, Diane,
Speaker 1: had a family history of breast cancer, so she got
Speaker 1: tested for a Braca mutation. That's the gene that Angelina
Speaker 1: Jolie has, the one that led her to get a
Speaker 1: double messed ectomy. But Diane's doctors didn't just look for
Speaker 1: the Braca gene. We found out they only they checked
Speaker 1: for other things, one being this I guess that came
Speaker 1: back and did you know when they were doing the tests? No,
Speaker 1: I had no idea. I thought they were just doing
Speaker 1: the braca. These incidental findings are happening more and more
Speaker 1: often as genetic testing gets easier and cheaper. Rather than
Speaker 1: testing patients only for the conditions they're most likely to have,
Speaker 1: their doctors are testing them for variants in a bunch
Speaker 1: of genes, and patients sometimes get unexpected results, like news
Speaker 1: that they have a c d H one mutation. Dr
Speaker 1: Stadler's watched the evolution of genetic testing in her practice
Speaker 1: at Sloan. Cattering and multigene panel testing is cost efficient.
Speaker 1: It's efficient for the patient because you everything all at once.
Speaker 1: It's easy for the physician because you check the box.
Speaker 1: It's a big panel and you get everything you need right.
Speaker 1: A lot of the commercial laboratories have incorporated CBH one
Speaker 1: into their generic breast cancer gene panel, even though many
Speaker 1: of those breast cancer patients don't actually need criteria for
Speaker 1: genetic testing for c DH one. That's how you find
Speaker 1: a risk for stomach cancer when you were worried about
Speaker 1: breast cancer. The Dylan family. They don't match a single
Speaker 1: one of the six criteria that doctors used to consider
Speaker 1: a genetic test for a c d H one mutation.
Speaker 1: You know there is cancer in my family, breast cancer,
Speaker 1: and you ever heard of stomach cancer in your family? Never? No, never.
Speaker 1: For some people, finding the mutation isn't a shock, it's
Speaker 1: a relief. It's an explanation for what's been devastating their
Speaker 1: families for decades. While getting your stomach removed seems drastic,
Speaker 1: it is feasible, and it's a way for these families
Speaker 1: to ward off an early death, a tragedy some have
Speaker 1: seen all too often. That's how it was for another
Speaker 1: c d H one patient I talked to. Her name
Speaker 1: is Hannah Davis. I met her through an advocacy group
Speaker 1: called No Stomach for Cancer. Unlike my cousin's family, Hannah's
Speaker 1: family does have a history of stomach cancer. It just
Speaker 1: took them a while to figure out the genetic connection.
Speaker 1: Hannah's great grandmother died decades ago of abdominal cancer. All
Speaker 1: five of her daughters developed breast cancer, and only one
Speaker 1: Hannah's grandmother survived. When Hannah's father started having stomach pain
Speaker 1: and quickly lost weight, no one put it together. Months later,
Speaker 1: he and a cousin were both battling stomach cancer and
Speaker 1: they realized maybe this wasn't a coincidence. So they kind
Speaker 1: of got to talking and they're like, well, this is
Speaker 1: kind of weird. What are the odds that we both
Speaker 1: have stomach cancer now? So that kind of opened the
Speaker 1: door to all of this testing. It was a c
Speaker 1: d H one mutation with high penetrants. That means there
Speaker 1: were a lot of affected family members. My dad's brother
Speaker 1: and sister both habit. Several of my dad's cousins tested
Speaker 1: positive and um then myself and one of my two
Speaker 1: brothers tested positive as well. Hannah's dad was in his
Speaker 1: fifties when he was diagnosed with cancer. There wasn't much
Speaker 1: doctors could do to help him, but there was one
Speaker 1: thing that he wanted for his family is dying. Wish
Speaker 1: really was for us kids to be tested. And he said,
Speaker 1: you know, if you test positive. You need to go
Speaker 1: through with the prophylactic total guest strict to me, because
Speaker 1: that's that's really the only way to prevent stomach cancer
Speaker 1: more people with this gene. Hannah got tested just after
Speaker 1: her dad passed away. She was twenty years old when
Speaker 1: she found out that she was a carrier, and she
Speaker 1: wasn't ready to let a doctor remove her stomach, so
Speaker 1: she waited, and she worried. I kind of just thought
Speaker 1: of it as like this ticking time bomb and and
Speaker 1: my body and I thought about it constantly, but I
Speaker 1: just felt like it wasn't the right time, and so
Speaker 1: I pursued my undergraduate degree, went to grad school and
Speaker 1: actually had my surgery the week before my graduation and
Speaker 1: walked to the stage of my graduation um a week
Speaker 1: out of having a total gas direct to me, which
Speaker 1: was very crazy. The doctors examined her stomach tissue and
Speaker 1: found no signs of cancer. But she's still glad she
Speaker 1: got the surgery. I have no regrets at all. I
Speaker 1: certainly feel this sense of relief. I know it's what
Speaker 1: my dad wanted for me. I know, just based off
Speaker 1: of the research. Having a chance of developing stomach cancer
Speaker 1: at some point in my life. And then, um, not
Speaker 1: only that, but just having it be so hard to detect.
Speaker 1: And I certainly rocked my world in so many diffront ways,
Speaker 1: But I have no regrets whatsoever those kinds of dramatic
Speaker 1: stories or what Mike found when he went online to
Speaker 1: research the condition, but they didn't really seem to apply
Speaker 1: to him and his family. They hired a company to
Speaker 1: do a complete medical history of Diane's ancestry going back generations.
Speaker 1: There was no smoking gun, no stomach cancer, no early
Speaker 1: deaths from cancer, any kind of cancer. Then Mike's internet
Speaker 1: searches found Perry Guilford, the researcher who discovered the c
Speaker 1: d H one G mutations role in gastric cancer. It
Speaker 1: was first found in an indigit in his tribe in
Speaker 1: New Zealand. And I sent him an email, UM, not
Speaker 1: really expecting response, and I think I got a response
Speaker 1: within twenty four hours, and you know, I'd explain the
Speaker 1: whole situation now we had no family history of it,
Speaker 1: and he was broke back pretty lengthy response, but he
Speaker 1: also agreed that you know, running out and having this
Speaker 1: surgery immediately it was not something that that I needed
Speaker 1: to be focused on at that point, there is another option.
Speaker 1: It's a really close monitoring approach called endoscopy. A specialist
Speaker 1: put a tube down your throat and takes dozens of
Speaker 1: biopsy samples from the stomach a few times each year.
Speaker 1: They're looking for the earliest signs of cancer, essentially the
Speaker 1: seed in the seedless watermelon, but they do it blindly.
Speaker 1: There are no visual cues when the cancer starts to
Speaker 1: form and spread, so it's imperfect. Still, since learning she
Speaker 1: had the c d H one mutation almost two years ago,
Speaker 1: Diane has decided to forego stomach removal and instead have
Speaker 1: endos cape's. While she's strong and lively and has no
Speaker 1: trouble shepherding a gaggle of her grandchildren at any given time,
Speaker 1: she's also tiny. People who have their stomach removed often
Speaker 1: lose one fifth of their body weight. Diane doesn't have
Speaker 1: an ounce to lose, and at age seventy two, maybe
Speaker 1: she's past the cancer risk. I can't let it worry me. Yeah,
Speaker 1: I gotta live my life. Um, if I got it,
Speaker 1: then you know, if I would address it. But I
Speaker 1: just feel right now, you know, I've made it this long,
Speaker 1: and I think the doctors are saying, Okay, you know,
Speaker 1: maybe you should because we really don't see it in
Speaker 1: your family. For Mike, it's a bit of a different story.
Speaker 1: Most of that risk is still ahead of him. So
Speaker 1: the average age of diagnosis is thirty eight. How old
Speaker 1: are you? So does that weigh on you? Yeah? Yeah, definitely.
Speaker 1: I mean especially in the beginning when I first, you know,
Speaker 1: it's started reading all this and seeing this. But then
Speaker 1: I also could look at my mom. She's made it
Speaker 1: this long and has had no you know, repercussions from
Speaker 1: the gene as far as the stomach goes. So the
Speaker 1: boom and genetic testing is profoundly changing the field. It
Speaker 1: used to be that the doctors tested cancer patients to
Speaker 1: see if they had a gene mutation. Now it's the
Speaker 1: other way around. Doctors are trying to predict people with
Speaker 1: a gene mutation will get cancer. It turns out the
Speaker 1: risk isn't as high as they once expected. This is
Speaker 1: Rashid Karen, director of the Ambre Translational Genomics Lab at
Speaker 1: Ambrey Genetics and an expert in c d H one mutations.
Speaker 1: The risk for the lobular breast cancer and for diffuse
Speaker 1: gastric cancer it's definitely higher than in the general population,
Speaker 1: but it's not as high as we thought initially in
Speaker 1: the last decade. Previously, people would say that you have
Speaker 1: eight risk of developing gastric cancer if you have a
Speaker 1: pathogenic mutation in stage one, So that's a pretty high risk.
Speaker 1: That would be a terrifying thing to read, right exactly. Yea,
Speaker 1: so that's what we used to say. What is the
Speaker 1: current understanding of what the risk is. So now we
Speaker 1: believe the data shows us that the risk is more
Speaker 1: around twenty for gastric cancer, and for women. The risk
Speaker 1: of global best cancer is also around He was emphatic
Speaker 1: that this lower percentage is still a really big problem.
Speaker 1: For comparison, about ten of smokers develop lung cancer, so
Speaker 1: this is even higher than that. I do want to
Speaker 1: stress this diffused gastric cancer is a very deadly disease.
Speaker 1: It's very hard to diagnose when it's too treatable. That's
Speaker 1: the benefit of the surgery. Their chance of developing gas
Speaker 1: cancer are are virtually none. The field is also evolving
Speaker 1: in other ways. As scientists find more c d H
Speaker 1: one mutations, they're also learning more about them. My name
Speaker 1: is from I'm a physician, scientist and searching oncologies. Here
Speaker 1: in the Rare Humor initiative of the National Cancer Institute,
Speaker 1: someone like Dr rute Law can do a deep dive
Speaker 1: on the specific gene variant itself, the one that's inside
Speaker 1: of you or in this case, the one that's inside
Speaker 1: of Mike and Diane. Not all changes are the same,
Speaker 1: so they really are not created equal. So, for example,
Speaker 1: when the genetic report comes out, the mutation itself needs
Speaker 1: to undergo a really rigorous vetting process to find out
Speaker 1: like where is it located, how does it affect them?
Speaker 1: Genet a significant differences in how strongly they are associated
Speaker 1: with the Kansas syndrome BOSS gastly cancer and the risk
Speaker 1: of developing press cancer. So he looked at Mike and
Speaker 1: Diane's mutation. It's pathogenic, which means it can cause disease,
Speaker 1: and it's a deletion which makes the gene itself abnormal,
Speaker 1: not functioning. But it occurs late in the gene, which
Speaker 1: is good news. That's generally associated with the lower risk
Speaker 1: of gastric cancer. But this is all really preliminary information.
Speaker 1: When you look overall to c d H one motions
Speaker 1: which had this type of mtation, which is very late
Speaker 1: in the gene. You do find a robust decrease in
Speaker 1: the number of patients affected by a ghastly cancer and
Speaker 1: then the number of patients who get the ghastly cancer
Speaker 1: at a young age. But you cannot risk that your
Speaker 1: cousin is this one outlier, and because the results can
Speaker 1: be so dire, this can literally be a life or
Speaker 1: death situation. Most doctors air on the side of caution.
Speaker 1: That's the reason why the current recommendation's current is still
Speaker 1: for created in thirty years of age for these patients
Speaker 1: and to undergo stomach remove you definitely also do not
Speaker 1: want to rule them here. Diffuse, ghastly cans, which is
Speaker 1: spent to lymph nodes or beyond the stomach, is an
Speaker 1: incurable condition and there's no effective treatment in the form
Speaker 1: of chemo, immuno or targeted therapy available for that. So
Speaker 1: what's life like without a stomach? The operation itself is simple.
Speaker 1: Doctor's cut out your stomach, then attach your esophagus directly
Speaker 1: to your small intestine and they sew you back up.
Speaker 1: It's like a really radical version of weight loss surgery.
Speaker 1: Adjusting to the change isn't as easy. Here's Hannah again.
Speaker 1: Remember she had her stomach removed at the age of two. Um,
Speaker 1: it's crazy, it will be two years in May. At first,
Speaker 1: it's so hard, you're kind of like learning how to
Speaker 1: eat again. You're eating the size of a golf ball,
Speaker 1: and it's extremely confusing and kind of messes with your head.
Speaker 1: But I've I've definitely reached a new normal and I
Speaker 1: enjoy pretty much everything that I used to enjoy. The
Speaker 1: thing that surprised me most you don't actually need your stomach.
Speaker 1: It's a bit of a holdover from an earlier evolutionary time,
Speaker 1: a pouch that allowed you to store extra food. Here's
Speaker 1: doctor Strong from Sloane Cattering. So the stomach is really
Speaker 1: it serves as a nice reservoir for you to eat
Speaker 1: bigger portions of food. The absorption of all the new
Speaker 1: trees that you that you need. It happens in your
Speaker 1: small intestine, not in your stomach. There's also the weight issue.
Speaker 1: People lose about their body weight in the first six months,
Speaker 1: then they stabilize and even gain it back. Doctor Strong
Speaker 1: sees it quite a lot. I've had many patients come
Speaker 1: back to me about six months later and they said,
Speaker 1: are you sure you took my stomach out because I
Speaker 1: feel like I can eat normally. Not everyone is like that.
Speaker 1: There's some patients who struggle, but there are a good
Speaker 1: number of patients who really go back to eating so
Speaker 1: comfortably that they say it really doesn't affect their everyday life.
Speaker 1: I even have a few patients who to three years
Speaker 1: after total guests tructy have ended up joining weight watchers
Speaker 1: because they wanted to lose some weight. In the past
Speaker 1: eighteen months, I've talked to dozens of doctors and researchers.
Speaker 1: I've read scores of papers. I've talked to Mike and
Speaker 1: Diane and Hannah and a handful of other patients. This
Speaker 1: is what I've learned. It's all really early. There are
Speaker 1: only about two families with c d H one mutations
Speaker 1: who have been studied by researchers. While geneticists and oncologists
Speaker 1: and surgeons are trying to predict the future, there's just
Speaker 1: not enough information. In the end, it's a gamble, one
Speaker 1: that each patient has to make on their own. So
Speaker 1: the plan at this point is just really to kind
Speaker 1: of keep doing what I'm doing and going up to
Speaker 1: New York every six months, um, you know, letting them
Speaker 1: look and give me a course of actually needs to
Speaker 1: be Mike has had six endoscopies in the past eighteen months,
Speaker 1: and now he's going twice a year to Sloan Cattering
Speaker 1: in New York to keep them up. He also has
Speaker 1: a personal doctor and an oncologist in Florida. But you know,
Speaker 1: there's got to be some percentage for me of chance
Speaker 1: of getting it, and it's just what can you live with?
Speaker 1: And well, yeah, right now, I guess I can live
Speaker 1: with whatever it is because I'm you know, this is
Speaker 1: what I'm what I'm going to do, you know again,
Speaker 1: And in my mind, whether it's five or ten years
Speaker 1: from now, if if nothing's changed, I probably will go
Speaker 1: forward with surgery. You know. At this point, I'm just
Speaker 1: gonna stick with what I'm doing. If he had the surgery,
Speaker 1: he wouldn't have any risk, but he also wouldn't have
Speaker 1: any information to share with his family. So does it
Speaker 1: weigh on you emotionally to have this diagnosis. It does
Speaker 1: weigh on me, not as much as it did initially,
Speaker 1: because I think I'm doing a lot of the right
Speaker 1: things by seeing all these different doctors. Probably the biggest
Speaker 1: reason to not do it is more So for my kids,
Speaker 1: the longer I go without having this cancer is tells
Speaker 1: them more what you know, haning forbid they have this
Speaker 1: gene in the future, what they may need to do. So,
Speaker 1: you know, I'd like to go as long as I
Speaker 1: can without without doing any drastic steps to see if
Speaker 1: that this gene does affect us. Let me tell you
Speaker 1: from me and everyone in my family, we're praying that
Speaker 1: this cancer doesn't become part of the medical history for
Speaker 1: Diane and Mike and his kids. That's it for this
Speaker 1: week's prognosis. Thanks for listening. Do you have a story
Speaker 1: about healthcare and the s or around the world we
Speaker 1: want to hear from you. Find me on Twitter at
Speaker 1: the Cortes or email m Cortes at Bloomberg dot net.
Speaker 1: If you're a fan of this episode, please take a
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Speaker 1: episode was produced by Lindsay Cratterwell. Our story editors were
Speaker 1: Drew Armstrong and Rick Shine. Francesca Leavie has had a
Speaker 1: Bloomberg Podcasts. We'll be back in two weeks on with
Speaker 1: a new episode. See you then,