Speaker 1: Pushkin.
Speaker 2: This show is not a substitute for professional medical advice, diagnosis,
Speaker 2: or treatment. It is for informational purposes. Please consult your
Speaker 2: healthcare professional with any medical questions.
Speaker 1: My mom was diagnosed with breast cancer in her fifties. Luckily,
Speaker 1: it wasn't complicated and she quickly went into remission. But
Speaker 1: this April, she was diagnosed with pancreatic cancer, one of
Speaker 1: the most lethal and hardest cancers to treat. It was
Speaker 1: devastating news. I assumed it wasn't a hereditary cancer. Most aren't,
Speaker 1: but some cancers can be caused by genetic mutations like
Speaker 1: the Brca one and Brca two genes, sometimes referred to
Speaker 1: as the Braca genes. These are genes that normally protect
Speaker 1: cells from damage, but when they don't work, cancerous skyrockets.
Speaker 1: Years ago, I was actually testing myself for Brocca mutations.
Speaker 1: I sent off blood work for genetic testing with a
Speaker 1: private company. I never got the results back, and I
Speaker 1: sort of forgot about it. That is until my mom's
Speaker 1: doctors tested her blood and found out that she carried
Speaker 1: a Broco one mutation. Her cancer had a genetic heritable element.
Speaker 1: I contacted the testing company that I had sent my
Speaker 1: blood work to years earlier, and I finally got those results.
Speaker 1: I was positive for a BRCA one mutation. Myself, I
Speaker 1: would have been livid. If I wasn't so scared. I'd
Speaker 1: already had my own battle with HPV related cancer in
Speaker 1: twenty twenty one, and as a pelvic surgeon, I know
Speaker 1: too well the realities of ovarian cancer. Within weeks, I
Speaker 1: had my ovaries and fallopian tubes removed. The wildest part.
Speaker 1: I have a PhD in genetics. I worked with some
Speaker 1: of the best vision icians and scientists in the world.
Speaker 1: I am an expert in ovarian cancer, yet this potentially
Speaker 1: fatal mutation when undetected in me for nearly sixty three years.
Speaker 1: I'm doctor Elizabeth Pointer. And this is Decoding Women's Health,
Speaker 1: a show from Pushkin Industries and the Atria Health Institute.
Speaker 1: This elevating the conversation about women's health in midlife and
Speaker 1: frankly challenging some of the status quote information out there.
Speaker 3: As a medical and cologist, I was really interested in
Speaker 3: breast cancer and I was seeing so many young women
Speaker 3: with breast cancer and a family history, so trying to
Speaker 3: help people not have to face these terrible situations that
Speaker 3: they found themselves in was really compelling to me. So
Speaker 3: it was really being able to see how devastating this
Speaker 3: can be in families and at the same time, how
Speaker 3: he doesn't have to be.
Speaker 1: That's doctor Susan Domchuk. She's the executive director of the
Speaker 1: Bachsor Center for Braka at the Universe Pennsylvania. She's an
Speaker 1: oncologist who specializes in research, treatment, and prevention of BRCA
Speaker 1: related cancers. I wanted to have her on the show
Speaker 1: to talk about the importance of knowing your family history,
Speaker 1: when you should get tested, who should get tested, and
Speaker 1: what to do if you, like me, discover you carry
Speaker 1: a BRACA mutation. I realize that this can be a
Speaker 1: really scary topic for people, but I hope you leave
Speaker 1: this conversation like I did, feeling empowered. There are so
Speaker 1: many ways we can be proactive about our health, and
Speaker 1: simply having more information can make a big impact. So
Speaker 1: what do women need to know about their family history?
Speaker 1: Is that three generations back? You know? Sometimes when I
Speaker 1: take a family history, people will say, Oh, my immediate
Speaker 1: family doesn't have any cancer, but I have some aunts
Speaker 1: and uncles that may have had cancer. So what do
Speaker 1: women need to know about their family history.
Speaker 3: So this is such an important point, is knowing your
Speaker 3: family history and knowing this in more detail than previously
Speaker 3: has been understood. It's important to know who had cancer
Speaker 3: at what ages, going back three generations, as we say,
Speaker 3: so looking at cousins and grandparents and more distant relatives
Speaker 3: is extremely important. The second thing is that it's not
Speaker 3: just breast cancer. For br SA one and ber C two,
Speaker 3: those stand for breast cancer one and breast cancer two
Speaker 3: because we're just not creative, so BRCA one and BRSA two.
Speaker 3: But when we speak about those two specific genes, which
Speaker 3: are the most common cause of reditary breast and ovarian cancer,
Speaker 3: the cancers that are seen are breast cancer, ovarian cancer,
Speaker 3: pancreatic cancer, and prostate cancer. So really having a complete understanding.
Speaker 3: In addition, as you're alluding to, people in past generations
Speaker 3: didn't necessarily talk about cancer, so finding out why Aunt
Speaker 3: Martha died at forty is really important even if the
Speaker 3: family didn't talk about it. So having an open conversation
Speaker 3: with your relatives about the family history. And by the way,
Speaker 3: genetics isn't just about BERC one and two. People die
Speaker 3: of colon cancer and they're in colon cancer susceptibility genes,
Speaker 3: there's early onset cardiovasclar issues. And finally, individuals who are
Speaker 3: Ashkenazi Jewish descent have a much higher chance of having
Speaker 3: a BRC one or two mutation. That risk is one
Speaker 3: in forty as opposed to one in two hundred in
Speaker 3: the general population. So knowing your ethnicity, knowing your family
Speaker 3: history are all really important.
Speaker 1: Let's tat a little bit about if a Broka wan
Speaker 1: or brock A two gene mutation is being passed down
Speaker 1: the father side of the family, it can be a
Speaker 1: little bit more challenging to look at, right because your
Speaker 1: father is not going to get ovarian cancer. He may
Speaker 1: get breast cancer, but it can make it a little
Speaker 1: bit more challenging to look at these family histories and
Speaker 1: interpret them. Can you just talk about that a little bit.
Speaker 3: In the past, people felt that it was only the
Speaker 3: mother's side that mattered, that it was only breast cancer
Speaker 3: that mattered when you were thinking about family history and
Speaker 3: the risk of having a genetic susceptibility. But none of
Speaker 3: that is true. You're really looking at both sides of
Speaker 3: the family. Fifty percent of all cancer genetic susceptibility genes.
Speaker 3: They will come from the dad, not the mom. If
Speaker 3: you line up every r C mutation carry in the world,
Speaker 3: half our men. And we can't emphasize this point enough
Speaker 3: since it's so often missed. So we can see families
Speaker 3: which are really male dominated in which there's a ton
Speaker 3: of early on set prostate cancer, and that is justice concerning.
Speaker 3: It's also important to recognize that family size matters. So
Speaker 3: if it's just your dad and he was an only
Speaker 3: child and his father was an only child, cancer susceptibility
Speaker 3: genes can be hidden in those types of families. I
Speaker 3: want to also emphasize, and this may be a different point,
Speaker 3: that we have lower and lower thresholds to do genetic
Speaker 3: testing all the time, so sometimes we get a little
Speaker 3: caught up in these issues of the exact family history
Speaker 3: that we meet for genetic testing. But really it's just
Speaker 3: a matter of knowing anything about your family history, including well,
Speaker 3: I have a tiny family on my dad's side and
Speaker 3: I am concerned about having a genetic susceptibility for whatever reason.
Speaker 3: We also recognize that not everybody knows their family history
Speaker 3: if they're adopted, or for instance, the Holocaust may have
Speaker 3: taken out an entire generation, so we have a much
Speaker 3: lower threshold for testing in those situations.
Speaker 1: When we talk about this generic genetic testing for cancer,
Speaker 1: what are we talking about in.
Speaker 3: The old days, if you will, you know, fifteen years ago,
Speaker 3: we would be testing for two genes, generally BARC one
Speaker 3: and br C two. But what we've learned since the
Speaker 3: nineties is that there are other genes that are also
Speaker 3: associated with breast cancer. One of those is pretty like beer,
Speaker 3: say one and two. It's called PALBI two. But there
Speaker 3: are some other genes, notably genes called CHECK two and ATM,
Speaker 3: which increase your risk of breast cancer only modestly. So
Speaker 3: with beer, say one and two, that lifetime risk is
Speaker 3: seventy percent, with check two it's about twenty to twenty
Speaker 3: five percent. So now when people get genetic testing, they
Speaker 3: are almost never tested for just two genes. They're tested
Speaker 3: for a panel of genes that will include not only
Speaker 3: beer say one and two, but other genes associated with
Speaker 3: breast cancer risk. There's colon cancer susceptibility genes as well.
Speaker 3: There's kidney cancer susceptibility genes. So in general, we send
Speaker 3: sort of a panel of genes that hits the most
Speaker 3: common cancers. The specific genes on those panels are looking
Speaker 3: for what we call a pathogenic variant otherwise and as
Speaker 3: a mutation in a gene that basically makes the protein
Speaker 3: not function and that's what increases the risk of cancer.
Speaker 1: And these genes that we're testing for are pretty much
Speaker 1: all what we call tumor suppressor genes.
Speaker 3: Correct. That's correct. So what we mean by that is
Speaker 3: that all of us are born with two copies of
Speaker 3: each gene and in general cancer sceptibility genes. Say, beer
Speaker 3: SA one is good. Beer C one actually helps ourselves
Speaker 3: repair a specific type of DNA damage called bubble strand
Speaker 3: and break. So BERSA one and ber C two are
Speaker 3: good for us. They help us. It's only when we
Speaker 3: lose them where you are at increased risk or cancer.
Speaker 1: I just want to pause for a moment here and
Speaker 1: walk you through this. These concepts can feel so overwhelming
Speaker 1: and frankly terrifying for women who are trying to better
Speaker 1: understand their family history and their own risk. So you
Speaker 1: might have been surprised to hear doctor Domchek say Brako
Speaker 1: one and Broko two are good for us. But she's right,
Speaker 1: Broca genes aren't cancer causing genes. They're cancer preventing genes.
Speaker 1: They're actually helpful. They protect us by fixing damaged DNA.
Speaker 1: Like doctor John Chuck said, we're all born with two
Speaker 1: copies of those genes. People with Brocca mutations have a
Speaker 1: broken copy of the gene. Most of the time, that
Speaker 1: one working copy is enough to keep you safe, but
Speaker 1: if something happens to damage or turn off that second
Speaker 1: working copy, then you don't have any protection. When working properly,
Speaker 1: these genes literally suppress tumors. You can imagine. It's almost
Speaker 1: like having security guards that keep cancer from getting in.
Speaker 1: Only when you lose both guards can cancer develop. Briefly,
Speaker 1: what can you tell us about the biology of inherited cancers.
Speaker 1: They're a little different. They present a little bit earlier,
Speaker 1: so people a little bit younger when they're diagnosed, and
Speaker 1: they may have a little bit of a better outcome
Speaker 1: to treatment. Correct.
Speaker 3: Yeah, it's a great point, and this is where not
Speaker 3: all genetic susceptibility is equal. BRSA one is different than
Speaker 3: Chuck two. And the reason I emphasize this is because
Speaker 3: when we lump it all together, patients can make decisions
Speaker 3: that may not make sense for them. So it's really
Speaker 3: important to get gene specific information. BRSA one and two
Speaker 3: related cancers generally do occur earlier. The median onset of
Speaker 3: the cancers is in the early forties. But you're right
Speaker 3: that these tumors for BARSA one and two do seem
Speaker 3: to be more sensitive to chemotherapy, and so specifically, an
Speaker 3: ovarian cancer outcome is better with ovarian cancer if you
Speaker 3: have a br SA one art mutation. In breast cancer,
Speaker 3: it's kind of complicated because of the different types of
Speaker 3: breast cancer, but in ovarian cancer that prognosis is clearly
Speaker 3: better if you have a BRSA one on mutation. So
Speaker 3: the reason people with cancer should be tested is because
Speaker 3: we have drugs available that we can give them that
Speaker 3: will make their cancer do better. Every single person with
Speaker 3: ovarian cancer needs to have testing. Every single person with
Speaker 3: pancreatic cancer, with metastatic prostate cancer. That's enough. We don't
Speaker 3: have to think for a minute about family history. Those
Speaker 3: are sufficient for people to get genetic testing for breast cancer. Absolutely,
Speaker 3: anyone under fifty and more recently sort of anyone under
Speaker 3: sixty five is a candidate for genetic testing, and anyone
Speaker 3: with a certain type of breast cancer called triple negative
Speaker 3: breast cancer should get genetic testing. We should not leave
Speaker 3: a single person in those categories behind. They should all
Speaker 3: get genetic testing. At big academic medical centers. We're doing
Speaker 3: better and better. We keep track of our metrics, and
Speaker 3: we're at over eighty percent in any of those, but
Speaker 3: across the country those numbers are terrible. For ovarian cancer,
Speaker 3: it's under fifty percent, and it's hard to imagine why
Speaker 3: that is, because it actually helps us make decisions about therapy.
Speaker 3: So if anyone out there that's listening, if you fall
Speaker 3: into any of those groups, or any of your family
Speaker 3: members DOE, you absolutely should get genic testing.
Speaker 1: Let's face it, getting a cancer diagnosis is devastating, but
Speaker 1: a better understanding of any underlying genetic cause can significantly
Speaker 1: improve treatment outcomes coming up. If genetic testing can save lives,
Speaker 1: why are we all getting it done? Decoding women's health
Speaker 1: will be right back. Welcome back to Decoding women's health.
Speaker 1: You might be surprised to learn, as I was, that
Speaker 1: even when genetic testing is offered, many people are slow
Speaker 1: to take it up. Doctor Susan Donchek has been engaged
Speaker 1: in some really important work around this.
Speaker 3: Increasingly, there's discussion about what we call population screening, which
Speaker 3: is offering everybody if you will be or s one
Speaker 3: and two testing. The complications with that is that it's
Speaker 3: not entirely clear how many people really want to do
Speaker 3: that right now, and also how we actually will get
Speaker 3: it done. We've done some studies to offer genetic testing
Speaker 3: to if you will, anyone who's of Ashkenazi Jewish descent.
Speaker 3: The uptake wasn't as much as we thought. We did
Speaker 3: a study a few years ago testing about four thousand
Speaker 3: individuals in that situation, and they didn't have to have
Speaker 3: any family history. We thought it would take about three
Speaker 3: months to test four thousand people in for cities, and
Speaker 3: it took us three years. And other data have really
Speaker 3: suggested that it matters if your doctor recommends this to you.
Speaker 3: And this is why this is so important to get out.
Speaker 3: We need to educate patients people out there in the
Speaker 3: community about the potential risk, and we also need to
Speaker 3: educate for to have a really low threshold to do
Speaker 3: genetic testing if there's a family history or again if
Speaker 3: people are of Ashkenazi Jewish to sent we're just going
Speaker 3: to the electronic health record and pulling out individuals who've
Speaker 3: told their providers that they have a family history and
Speaker 3: sending them messages saying you should consider getting genetic testing.
Speaker 3: And just in our preliminary data, just that simple effort,
Speaker 3: twenty five percent of people schedule appointments to get genetic testing.
Speaker 3: So people are interested, they just don't know about it.
Speaker 3: I think that we can use simple solutions of asking
Speaker 3: people at the right time and then immediately referring them
Speaker 3: to genetics. Our primary care doctors have a lot to do,
Speaker 3: so this idea that we can expect them to also
Speaker 3: do a great screening for these things and get people tested.
Speaker 3: It might happen, but it's a lot we need to
Speaker 3: help our primary care doctors.
Speaker 1: About what age did you start to consider genetic testing?
Speaker 1: Twenty two to twenty five.
Speaker 3: There's really two reasons to test. The first reason is
Speaker 3: because you're going to change your medical decision making, and
Speaker 3: for most cancer susceptibility genes, you know, we don't start
Speaker 3: doing anything different medically until age twenty five. That's when
Speaker 3: we start. For instance, restmeris for BERC one mutation cares. Now,
Speaker 3: there are sometimes where there's a particularly early onset in
Speaker 3: the family where we would potentially do it earlier, but
Speaker 3: in general, we have twenty five in our heads. There's
Speaker 3: another reason to get genetic testing for BRSA one two
Speaker 3: and other cancer sceptibility genes, and that's for reproductive decision making,
Speaker 3: and that takes on two different pieces. One pre implantation
Speaker 3: genetic testing, So this is when individuals go through in
Speaker 3: vitro fertilization, screen the embryos and only reimplant the embryos
Speaker 3: that don't have the BRC one or BRC two mutation. Well,
Speaker 3: some people are not interested in this, but this technology
Speaker 3: is available. So there are times that you know, women
Speaker 3: are interested in starting their families before their twenty five
Speaker 3: So that's another reason to consider screening. In addition, several
Speaker 3: of the genes that we're talking about, and I'll give
Speaker 3: br C two as an example. In rare situations, a
Speaker 3: baby can inherit two bad copies of ber C two,
Speaker 3: one from each parent, and when that occurs, there's a
Speaker 3: twenty five percent chance that the baby will have a
Speaker 3: condition called fincnianemia, which is a serious medical condition. So
Speaker 3: these are all reasons to consider genetic testing sort of
Speaker 3: at the time you're starting to think about your family
Speaker 3: or medical decision making, and so that matters for the
Speaker 3: men too, because in general, we don't really start much
Speaker 3: for men in terms of their personal screening until closer
Speaker 3: to forty, but when they're ready to start having their children.
Speaker 3: If one of their parents has a BERC mutation, then
Speaker 3: we certainly talk about screening before they start having their kids.
Speaker 3: So I think it's really important that people know that
Speaker 3: even if their doctor doesn't bring it up, that it
Speaker 3: still may be real to them, and that they can
Speaker 3: either talk to their doctors about it they're gynecologists, a
Speaker 3: primary care doctor, or see a genetic counselor for testing.
Speaker 3: There are also direct to consumer approaches to genetic testing,
Speaker 3: where people can just go online and order the tests themselves.
Speaker 3: There are pros and cons to those approaches, but right
Speaker 3: now you know it's all hands on deck. There are
Speaker 3: multiple ways to get this testing done, and we should
Speaker 3: make sure that people know about all of them.
Speaker 1: I took the direct to consumer route myself. There are
Speaker 1: plenty of companies that offer easy to use at home
Speaker 1: testing kits that you can just mail in and get
Speaker 1: the results online. The benefit is that it's quick, easy,
Speaker 1: and relatively inexpensive. The problem is is that you don't
Speaker 1: have guidance and support necessarily that comes with getting tested
Speaker 1: with a personal physician. So if you go this route,
Speaker 1: I strongly advise connecting with the genetic counselor beforehand. Even
Speaker 1: if you think that you're prepared to learn that you
Speaker 1: carry a genetic mutation, actually getting that result can still
Speaker 1: pack a huge emotional punch. Having an expert in your
Speaker 1: corner helps you understand what the result means and what
Speaker 1: steps to take next. The National Society of Genetic Counselors
Speaker 1: has a registry where you can find professionals to guide you.
Speaker 1: Having said that, in an ideal world, everyone would be
Speaker 1: guided through genetic testing in person by a physician they trust,
Speaker 1: but one of the barriers to this sort of testing
Speaker 1: for many patients is cost. In some cases, patients can
Speaker 1: get the testing paid for by their insurance. The National
Speaker 1: Comprehensive Cancer Network provides guidelines for testing that include the
Speaker 1: big factors that we've discussed today, If you're of Ashkenizi
Speaker 1: Jewish descent, if you've had blood relatives with a confirmed
Speaker 1: cancer causing gene variant, or if you or a family
Speaker 1: member has a personal history of a rare or multiple cancers.
Speaker 1: I asked doctor Domchek, what about patients are women who
Speaker 1: don't fall into these categories.
Speaker 3: If people don't meet those guidelines at most labs, there
Speaker 3: are still self pay options that cost about three hundred dollars.
Speaker 3: But I will say that navigating this can sometimes be
Speaker 3: frustrating and complex for patients. So I think that when
Speaker 3: people meet clear criteria for JANK testing, everything goes through
Speaker 3: very well. If people are more on the bubble, self
Speaker 3: pay options are actually going to be cheaper than if
Speaker 3: you will going through insurance where it may not be
Speaker 3: covered at.
Speaker 1: All, for people who may not be able to afford
Speaker 1: the three hundred dollars. Are you aware of any support
Speaker 1: services for these individuals?
Speaker 3: Yes, there are, and oftentimes the labs have held there
Speaker 3: are various programs that exist. It does get a little
Speaker 3: bit complicated if people do not have insurance at all.
Speaker 3: It can be tricky because even if we could get
Speaker 3: someone free testing, we're not able to then get them
Speaker 3: the medical care that they need. So that is a
Speaker 3: big gap right now. Is people who are completely uninsured.
Speaker 3: We really do struggle because even if we could test them,
Speaker 3: we would not really be able to care for them,
Speaker 3: and that doesn't feel great. So hopefully all insurance problems
Speaker 3: in the United States will be fixed and we won't
Speaker 3: have to worry about it. But I'm not going to
Speaker 3: hold my breath right now for that.
Speaker 1: So a lot of upside to genetic testing allowing you
Speaker 1: to do some planning, and we'll move into that in
Speaker 1: just a moment.
Speaker 3: Any downsides, Sure, this is information that can be extremely
Speaker 3: difficult to learn. I had a physician once tell me
Speaker 3: she felt that the genetic testing both saved your life
Speaker 3: had ruined it. And she didn't really mean ruin it,
Speaker 3: but she just at dealing with this information making the
Speaker 3: decisions she had to make well really difficult. And so,
Speaker 3: first of all, we always like to emphasize that when
Speaker 3: you get your genetic test result back, if it's positive,
Speaker 3: that was always there. You were positive from the time
Speaker 3: you were born. You know, you didn't change on a
Speaker 3: dime day to day. We also like to talk about
Speaker 3: lifetime risks. So when we talk about lifetime risk of
Speaker 3: cancer as highly seventy percent, that's not your risk tomorrow,
Speaker 3: that's your risk over your whole life. But you can
Speaker 3: imagine that feeling getting that information is really overwhelming, and
Speaker 3: so our job is to try to counsel people through it.
Speaker 3: To focus on the immediate next steps of what needs
Speaker 3: to happen. Currently, the only effective strategy for a varying
Speaker 3: cancer risk reduction is early surgery, so premenopausal to me
Speaker 3: removable of your ovaries before you or otherwise we go
Speaker 3: into menopause, and that has significant issues for women. We
Speaker 3: try to get people through it as best we can,
Speaker 3: but it's still fun to have to consider these things
Speaker 3: and then deciding whether to continue to screen or do astectomy.
Speaker 3: That can be challenging for parents to get tested. We
Speaker 3: see a lot that when individuals get tested that have children,
Speaker 3: they can feel very sad and sometimes guilty about the
Speaker 3: potential that they've passed this belong to their children. Of course,
Speaker 3: we all pass along good and bad genes to our kids.
Speaker 3: In this case, you just kind of know what it is.
Speaker 3: But these are real issues that we know that people
Speaker 3: struggle with, and our job is to try to help
Speaker 3: people through this time and really focus on the fact
Speaker 3: that this information can be life saving, but at the
Speaker 3: same time acknowledge the grief that's involved in having to
Speaker 3: make these decisions.
Speaker 1: So I'm diagnosed with the bracket one mutation in twenty
Speaker 1: twenty five, what does taking action look like as a
Speaker 1: younger woman, as a primin apausal woman.
Speaker 3: Yes, and so in twenty twenty five, there are clear
Speaker 3: things that women can do, but we are actively hoping
Speaker 3: for better options. So right now, at twenty five, all
Speaker 3: someone needs to do is get a breast MRI once
Speaker 3: a year. The risk of developing breast cancer prior to
Speaker 3: age thirty when you're a twenty five year old beer
Speaker 3: C one mutation carries less than five percent, but that's
Speaker 3: still much higher than an average woman. So brust emri
Speaker 3: once a year. At thirty, we have to mammogram, so
Speaker 3: that every six months you're getting an MRI or a mammogram. Unfortunately,
Speaker 3: between age thirty five and forty women should undergo remove
Speaker 3: all the pilopian tubes and ovaries. So this is for
Speaker 3: bars one now. Risk reducing mass tec to me or
Speaker 3: prophylactic masks tec to me can be done at any
Speaker 3: time with an individual with a br c in one
Speaker 3: or two or other gene mutations. Some women are not
Speaker 3: interested in mask tec tomy at all and will continue screening,
Speaker 3: so we like to have an honest conversation about their
Speaker 3: goals about body image, about sexuality, and other quality of
Speaker 3: life issues as people make their decisions.
Speaker 1: What about just removal of the pelopian tubes alone, without
Speaker 1: removing the ovaries. Is that data mature enough for us
Speaker 1: to make that recommendation now?
Speaker 3: Not? Yeah, but boy, I want it to be.
Speaker 1: So.
Speaker 3: The theory behind this, as you're alluding to, is that
Speaker 3: there's data that many ovarian cancers arise in the philopian
Speaker 3: tube and that potentially if we just remove the philippian tubes,
Speaker 3: we can decrease the risk of ovarian cancer. And there's
Speaker 3: some interesting sort of data out there, including a study
Speaker 3: that's being done in British Columbia where every woman who's
Speaker 3: coming in to have her tubes tied just has their
Speaker 3: tubes removed, and again the very early data suggests that
Speaker 3: there's a decrease in ovarian cancer risk. We call that
Speaker 3: an opportunistic salve in theectimy. So that I think nobody
Speaker 3: should have their tubes tied anymore, you know, in the
Speaker 3: general population or beer sacres, they should have their tubes
Speaker 3: removed if they're using that for their family planning and
Speaker 3: first control. The question becomes in beer sacres, how certain
Speaker 3: are we about this? Because again, ovarian cancer has no
Speaker 3: effective screening and Most women who are diagnosed with ovarian
Speaker 3: cancer are diagnosed at elite stage, and most women with
Speaker 3: a late stage ovarian cancer die of their disease. So
Speaker 3: this is where the challenge is. The studies are ongoing,
Speaker 3: but when will we feel strong enough to recommend that
Speaker 3: as a routine care when we know how bad ovarian
Speaker 3: cancer is. Right now, again, we don't have data sufficient
Speaker 3: to tell people that they can avoid having their ovaries removed.
Speaker 3: So what we're seeing more and more of is that
Speaker 3: a b r C one Karen might have her twos
Speaker 3: removed at thirty five and then her ovaries removed at forty.
Speaker 3: For a br C two care, that's more like forty
Speaker 3: and forty five.
Speaker 1: When do you think that data is going to be
Speaker 1: mature five years, ten years, twenty years.
Speaker 3: Here's my worry that if people are getting their twos
Speaker 3: removed at thirty five and then they still get their
Speaker 3: ovaries removed at forty one, we won't have the data.
Speaker 3: People have to keep their ovaries in long enough for
Speaker 3: us to prove it works right sort of past forty
Speaker 3: five or even un till each fifty. And I think
Speaker 3: this is the tension I always have in the clinic
Speaker 3: I'm really a clinician. First, I'm taking care of my patients.
Speaker 3: I'm a bit of a researcher. Second, for my patients,
Speaker 3: I don't want her to keep her overrays in. But
Speaker 3: from a research perspective, and less enough people continue to
Speaker 3: keep their ovaries, we're not going to have the data.
Speaker 3: So I think it's going to be a little bit tricky,
Speaker 3: and it might be a little bit entirely.
Speaker 1: Once I found out that I was a Brocco one carrier,
Speaker 1: the decision to remove my uterus, ovaries and fallopian tubes
Speaker 1: for me was straightforward. I was older, I'd already had
Speaker 1: children and experienced menopause. For younger women, making the same
Speaker 1: choice means two things. First, no further chance to conceive,
Speaker 1: and second, entering menopause overnight. These are big decisions and
Speaker 1: surgery might not be the best course of action for everyone.
Speaker 1: When we come back from the break, we'll discuss other
Speaker 1: preventive strategies for women to lower their risk, and we'll
Speaker 1: talk about some groundbreaking new treatments on the horizon. More
Speaker 1: from my conversation with Darja Susan Domchek in just a moment.
Speaker 1: Welcome back to the show. I'm speaking with doctor Susan
Speaker 1: damchek All about genetic testing. Her work is at the
Speaker 1: forefront of cancer prevention, cutting edge strategies that seek to
Speaker 1: stop cancer in its earliest stages. But before we get
Speaker 1: to that, I wanted to ask doctor Domck about some
Speaker 1: newer methods for identifying genetic risk. Let's move into just
Speaker 1: the different types of genetic testing that are out there
Speaker 1: now in terms of polygenic risk scores and whole genome sequencing.
Speaker 1: Can you speak to these newer forms of genetic testing
Speaker 1: a little bit?
Speaker 3: Sure, So let's start with polygenic risk scores. And but
Speaker 3: that is a single alteration in FUERCA one increases your
Speaker 3: risk of breast cancer by up to seventy percent. It
Speaker 3: increases your risk google veering cancer up to forty five percent.
Speaker 3: Polygenic risk scores look at small, little changes throughout your DNA.
Speaker 3: The challenges of polygenic risk scores are that they're very
Speaker 3: dependent on ethnicity, and so in the United States when
Speaker 3: people are often sort of ethnically diverse, we haven't really
Speaker 3: figured it all out yet. Okay, So moving on a
Speaker 3: whole genome. So what is that? So, just as a reminder,
Speaker 3: we have a certain number of genes over twenty thousand.
Speaker 3: But when we test for genetics astibility, what we usually
Speaker 3: do is focus on genes known to be associated with cancer.
Speaker 3: So that can be a twenty five gene panel or
Speaker 3: an eighty gene panel or something like that. There is
Speaker 3: an approach that you can take called whole xome sequencing,
Speaker 3: which just sequences the known genes, but it sequences all
Speaker 3: the nome genes. And then there's whole genome sequencing, which
Speaker 3: sequences the whole genome. If you do a whole xome sequencing,
Speaker 3: you will find stuff. Most of us have stuff. The
Speaker 3: question then becomes does that stuff matter? And it might
Speaker 3: seem obvious that that stuff should matter, right that if
Speaker 3: you find something that it obviously should matter. But it
Speaker 3: turns out that genetics is not that simple as we
Speaker 3: sometimes say. Genetics is not destiny. Just because you have
Speaker 3: an alteration in some finding doesn't mean that you're going
Speaker 3: to get that condition. And there are a lot of
Speaker 3: genes where the risks associated with those genetic mutations aren't
Speaker 3: very high. An example I'll give is something called SDHA
Speaker 3: alterations in that gene predispose you to certain types of
Speaker 3: rare tumors, but the risk of that happening if you
Speaker 3: have an SDHA mutation is less than five percent. So
Speaker 3: if we identify someone with that, generally speaking, we don't
Speaker 3: do anything about it unless there's a family history consistent
Speaker 3: with it. I'm only using that as an example to
Speaker 3: show how you can get into trouble with things like
Speaker 3: collexm and whole genome sequencing, which is we're going to
Speaker 3: find a lot of stuff, but we won't necessarily know
Speaker 3: exactly how to use it for that individual patient.
Speaker 1: Let's move into prevention strategies, right for the woman who's
Speaker 1: not ready for prophylactic surgery, undergoing some screening, birth control pills,
Speaker 1: even life style. What are the impact of these strategies
Speaker 1: for women who carry brocka wan and Brocketo mutation.
Speaker 3: I think lifestyle is you know, the effects in berca
Speaker 3: in one and two mutation carriers may be modest, just
Speaker 3: because the genetics stuff is driving a lot of the risk.
Speaker 3: Having said that, healthy weight, minimizing alcohol, regular exercise, not smoking,
Speaker 3: these are all excellent things to do for women. There's
Speaker 3: a lot of debate about what safe level of alcohol is,
Speaker 3: but there has been some suggestion that you know, up
Speaker 3: to three drinks a week. The risk is very very low,
Speaker 3: so that's lifestyle always a good thing to do. The
Speaker 3: data for medications such as tamoxifin, loxifen, and another drug
Speaker 3: called exemesting in terms of decreasing the risk of breast
Speaker 3: cancer is limited in beer CA carriers, although it does
Speaker 3: seem like there is an impact in terms of ovarian
Speaker 3: cancer risk reduction. Oral contraceptive pills do seem to decrease
Speaker 3: the risk of a virile cancer. They also do slightly
Speaker 3: increase the risk of breast cancer, so it's a risk
Speaker 3: benefit decision. People have endometriosis or terrible heavy bleeding or
Speaker 3: just really terrible cycles in general, and birth control pills
Speaker 3: are really helpful or they need birth control, and particularly
Speaker 3: in this day and age in the United States, it's
Speaker 3: really important that people have access to affective birth control.
Speaker 3: So the birth control discussion with the risk benefit profile
Speaker 3: just needs to be individualized, so no easy answers there.
Speaker 3: We're obviously really interested in other approaches, so this new
Speaker 3: era of getting people better options is super important.
Speaker 1: Screening strategies, so breast screening is pretty well established with
Speaker 1: MRI mammogram ultrasound ovarian cancer screening a mind filled anything
Speaker 1: that you're excited about.
Speaker 3: Oh, varian cancer screening, it's just so difficult. As you know,
Speaker 3: we've been through other blood tests in the distant past, overshore,
Speaker 3: overseek over one, and I don't even remember all the
Speaker 3: OVAs that came and went over the years that weren't
Speaker 3: good tests. You know, I think that these new multi
Speaker 3: cancer early detection tests are interesting but as yet unproven
Speaker 3: and ovarying cancer early detection. This is why, unfortunately everyone
Speaker 3: feels so strongly still about removal of the oversease. It's
Speaker 3: because we don't have this well established the issue of
Speaker 3: transnagal ultrasend. They really just don't work very well at all,
Speaker 3: and there's a lot of false positives associated with them
Speaker 3: because pre menopausal women have all sorts of cysts depending
Speaker 3: on the timing of their cycle. So you know, the
Speaker 3: guidelines have sort of been all over the map given
Speaker 3: the absence of data. But a common strategy is to
Speaker 3: start ovarian cancer screening sort of at the time you
Speaker 3: would start considering removal of the ovarias, so like thirty
Speaker 3: five for BARC one or forty for br C two,
Speaker 3: in which case a false positive that led you down
Speaker 3: to removal of the ovarias. I'm not saying is not
Speaker 3: so bad because it's we're still taling with the impact,
Speaker 3: but it's in the range that we would consider that.
Speaker 3: So I'm curious about your approach to it, but that's
Speaker 3: often the approach that we take in the absence of
Speaker 3: better data.
Speaker 1: I'm looking forward to research and development of new screening tools.
Speaker 1: I think that you know twenty five ultracent. We use them,
Speaker 1: employ them, but realize that they're limited. But as the
Speaker 1: best we can do. Have to be super careful though
Speaker 1: in terms of caution, interpretation of results, really really really careful.
Speaker 1: But I want to get into your really exciting work
Speaker 1: with cancer interception and cancer vaccines. You know, our family
Speaker 1: history is pancreas cancer. You can't take out you're pancreas,
Speaker 1: and screening for pancreas cancer is limited and not well proven.
Speaker 1: So talk to me about cancer interception and cancer prevention vaccines.
Speaker 3: Yeah. Sure, So this phrase cancer interception, what does it
Speaker 3: even mean anyway, It's a way to try to differentiate
Speaker 3: from prevention. You know, when we talk about prevention, if
Speaker 3: it's a little bit like you don't smoke because smoking
Speaker 3: causes those changes that lead to cancer. Right, So prevention
Speaker 3: is you don't smoke, so you don't even start those changes.
Speaker 3: Cancer interception, which was going by Loose Blackburn and no
Speaker 3: prize winning scientists. It's trying to target the earliest stages
Speaker 3: of cancer development. The cancer has just started, but you
Speaker 3: can't detect it yet, and so that's cancer interception. So
Speaker 3: the idea here is that we try to target those
Speaker 3: first cells that are turning into cancer in a beer
Speaker 3: C carrier, so maybe I've lost the second copy of
Speaker 3: beer C for instance. So when you think about potential strategies,
Speaker 3: one of those strategies could be immune interception. So we
Speaker 3: really have a better understanding over the last you know,
Speaker 3: fifteen plus years that the immune system is incredibly important
Speaker 3: in cancer in a way that would have been you know,
Speaker 3: laughed at twenty five years ago. But we know that
Speaker 3: we can use immune therapies to help treat cancer. So
Speaker 3: one of the strategies that we're trying is to develop
Speaker 3: a vaccine that might develop immune cells that find those
Speaker 3: earliest cancer cells. You know, they're surveying your body and
Speaker 3: then as soon as that cell develops, they they target
Speaker 3: it and kill it. So we recently completed a study
Speaker 3: where we did vaccinate healthy BRC carriers using something called
Speaker 3: the DNA plasmid vaccine. What we were vaccine two isn't
Speaker 3: specific to BRC carriers, but it's the idea that you
Speaker 3: could identify a group that's at a high enough risk
Speaker 3: to try this. So the vaccine was safe, and now
Speaker 3: we're waiting to get the imminology results and then figure
Speaker 3: out our next phase. So that's sort of one approach.
Speaker 3: Let's use the immune system, let's target different types of
Speaker 3: immune strategies. We are also looking at mRNA types of
Speaker 3: approaches to vaccines. I mean, I do not view vaccines
Speaker 3: as a dirty word here, but if you want to
Speaker 3: call it immune interception as opposed to vaccines, I'll take
Speaker 3: that as well. But there's other ways to think about interceptions.
Speaker 3: So let's talk about pancreatic cancer. Pancreatic cancer. The risk
Speaker 3: of pancreatic cancer's highest in br C two rather than
Speaker 3: BRC one mutation carres, although the risk is elevated in both,
Speaker 3: and as you said, pancreatic cancer is a tough cancer.
Speaker 3: We do offer screening with either a endoscopic ulture sound
Speaker 3: or abdominal MRI, but as you mentioned, you know, it
Speaker 3: is limited, but almost all pancreatic cancers develop something called
Speaker 3: k Wrass mutations. So we actually also have work being
Speaker 3: done in the pass Or center looking at whether or
Speaker 3: not k wrass inhibitors in mice can decrease the risk
Speaker 3: of developing pancreatic cancer. So those are some some of
Speaker 3: the ideas that we have. There's other work going on.
Speaker 3: Could we use short doses of apartment hit er, these
Speaker 3: drugs that we use in the advanced cancer setting and
Speaker 3: in high risk breast cancer setting, could we use those
Speaker 3: intermittently to if you will, weed the garden and take
Speaker 3: out all those weeds before they develop into something, right,
Speaker 3: intermittently getting rid of all of those pre cancerous cells.
Speaker 3: So more to come, but it's a really exciting area
Speaker 3: that we're working on.
Speaker 1: If listeners could take away one point from this conversation,
Speaker 1: what would you like it to be to.
Speaker 3: Be proactive about getting your family history taken seriously? I
Speaker 3: think that patients can be, if you will, a little
Speaker 3: put off and be like, oh, don't worry about that.
Speaker 3: That's not enough to get genetic testing. And the fact
Speaker 3: is is that most doctors out there learned about genetic
Speaker 3: testing in medical school, you know, fifteen or twenty years ago,
Speaker 3: and they're not entirely up to date. It's not their fault.
Speaker 3: There's too much to do. But there's a lot of
Speaker 3: resources out there, and you can self refer to a
Speaker 3: genetic counselor to get more information if you're not getting
Speaker 3: the answers that you want.
Speaker 1: Are there resources for our listeners actually in terms of
Speaker 1: where they can go to learn more about this.
Speaker 3: Yeah, we do at faster dot org so BA s
Speaker 3: ser dot org. We have a lot about why genetic
Speaker 3: testing can be helpful and have provided some resources, including
Speaker 3: any large comprehensive cancer center will have genetic counselors available.
Speaker 3: There are plenty of physicians, gecologists, and primary care directors
Speaker 3: who comfortable with this and do you do it? So
Speaker 3: asking your primary care doctor first can always make sense,
Speaker 3: But if your primary care doctor doesn't know a lot
Speaker 3: about it or it's not really offering it to you,
Speaker 3: don't stop there. There are lots of different ways to
Speaker 3: get this done.
Speaker 1: I had cancer and I had seen some of the
Speaker 1: best physicians in the country for treatment. None of them
Speaker 1: ever mentioned to me genetic testing. I am literally a geneticist,
Speaker 1: and I didn't think that this applied to me. If
Speaker 1: you have family members with breast ovarian, pancreatic, or prostate cancer,
Speaker 1: it's worth it to consider genetic testing, even if your
Speaker 1: doctor hasn't suggested it, Even if you've been tested in
Speaker 1: the past a ten years or so, I'd recommend thinking
Speaker 1: about testing again. Technology is getting better and better each day.
Speaker 1: We're aware of more cancer causing genes than we were
Speaker 1: a decade ago, and we have more tools to treat
Speaker 1: those specific diseases. Your health insurance may cover genetic testing
Speaker 1: if you fall into a high risk group, but if not,
Speaker 1: there are lots of alternative ways that you can get
Speaker 1: genetic information you need. Direct to consumer options like I
Speaker 1: did are quick and easy, but I would always recommend
Speaker 1: connecting with a genetic counselor to help interpret your results.
Speaker 1: If you are positive for genetic mutation, there are a
Speaker 1: multitude of preventative measures that you can take, from prophylactic
Speaker 1: surgeries to risk reducing drugs like tomoxifen or reluxaphene. Ultimately,
Speaker 1: you are responsible for your own health. You have to
Speaker 1: advocate for yourself, but you don't have to do it alone.
Speaker 1: There are amazing places like the beast Or Center that
Speaker 1: can help you navigate this, Organizations that have testing, genetic counseling,
Speaker 1: treatment options, and positive communities all in one place. Taking
Speaker 1: that first step could save your life or the life
Speaker 1: of someone you love. Coming up on the next episode
Speaker 1: of Decoding Women's Health, I speak with a world renowned
Speaker 1: expert in medical cannabis. You are not going to want
Speaker 1: to miss this one.
Speaker 4: The top three indications for medical cannabis use across the
Speaker 4: country are chronic pain, mood or anxiety, and sleep disruption.
Speaker 4: Not surprisingly, these are the three top conditions we hear
Speaker 4: about in individuals who are either perimenopausal or postmenopausal.
Speaker 1: Decoding Women's Health is a production of Pushkin Industries and
Speaker 1: the Atria Health and Research Institute. This episode was produced
Speaker 1: by Rebecca Lee Douglas. It was edited by Amy Gaines McQuaid,
Speaker 1: mastering by Sarah Buguer. Our associate producer is Sonia Gerwit,
Speaker 1: backchecking by doctor David Dodick. Our executive producer is Alexandra Garreton.
Speaker 1: Our theme song was composed by HANNS. Brown. Concept and
Speaker 1: creative development by Shavn O'Connor. A special thanks to Alan
Speaker 1: Tish David Saltzman, Sarah Nix, Eric Sandler, More Ratner, Amy Hagdorn,
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Speaker 1: and thanks for listening. Until next time,