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Speaker 1: Pushkin.

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Speaker 2: This show is not a substitute for professional medical advice, diagnosis,

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Speaker 2: or treatment. It is for informational purposes. Please consult your

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Speaker 2: healthcare professional with any medical questions.

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Speaker 1: My mom was diagnosed with breast cancer in her fifties. Luckily,

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Speaker 1: it wasn't complicated and she quickly went into remission. But

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Speaker 1: this April, she was diagnosed with pancreatic cancer, one of

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Speaker 1: the most lethal and hardest cancers to treat. It was

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Speaker 1: devastating news. I assumed it wasn't a hereditary cancer. Most aren't,

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Speaker 1: but some cancers can be caused by genetic mutations like

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Speaker 1: the Brca one and Brca two genes, sometimes referred to

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Speaker 1: as the Braca genes. These are genes that normally protect

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Speaker 1: cells from damage, but when they don't work, cancerous skyrockets.

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Speaker 1: Years ago, I was actually testing myself for Brocca mutations.

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Speaker 1: I sent off blood work for genetic testing with a

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Speaker 1: private company. I never got the results back, and I

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Speaker 1: sort of forgot about it. That is until my mom's

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Speaker 1: doctors tested her blood and found out that she carried

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Speaker 1: a Broco one mutation. Her cancer had a genetic heritable element.

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Speaker 1: I contacted the testing company that I had sent my

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Speaker 1: blood work to years earlier, and I finally got those results.

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Speaker 1: I was positive for a BRCA one mutation. Myself, I

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Speaker 1: would have been livid. If I wasn't so scared. I'd

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Speaker 1: already had my own battle with HPV related cancer in

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Speaker 1: twenty twenty one, and as a pelvic surgeon, I know

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Speaker 1: too well the realities of ovarian cancer. Within weeks, I

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Speaker 1: had my ovaries and fallopian tubes removed. The wildest part.

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Speaker 1: I have a PhD in genetics. I worked with some

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Speaker 1: of the best vision icians and scientists in the world.

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Speaker 1: I am an expert in ovarian cancer, yet this potentially

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Speaker 1: fatal mutation when undetected in me for nearly sixty three years.

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Speaker 1: I'm doctor Elizabeth Pointer. And this is Decoding Women's Health,

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Speaker 1: a show from Pushkin Industries and the Atria Health Institute.

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Speaker 1: This elevating the conversation about women's health in midlife and

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Speaker 1: frankly challenging some of the status quote information out there.

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Speaker 3: As a medical and cologist, I was really interested in

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Speaker 3: breast cancer and I was seeing so many young women

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Speaker 3: with breast cancer and a family history, so trying to

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Speaker 3: help people not have to face these terrible situations that

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Speaker 3: they found themselves in was really compelling to me. So

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Speaker 3: it was really being able to see how devastating this

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Speaker 3: can be in families and at the same time, how

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Speaker 3: he doesn't have to be.

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Speaker 1: That's doctor Susan Domchuk. She's the executive director of the

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Speaker 1: Bachsor Center for Braka at the Universe Pennsylvania. She's an

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Speaker 1: oncologist who specializes in research, treatment, and prevention of BRCA

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Speaker 1: related cancers. I wanted to have her on the show

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Speaker 1: to talk about the importance of knowing your family history,

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Speaker 1: when you should get tested, who should get tested, and

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Speaker 1: what to do if you, like me, discover you carry

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Speaker 1: a BRACA mutation. I realize that this can be a

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Speaker 1: really scary topic for people, but I hope you leave

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Speaker 1: this conversation like I did, feeling empowered. There are so

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Speaker 1: many ways we can be proactive about our health, and

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Speaker 1: simply having more information can make a big impact. So

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Speaker 1: what do women need to know about their family history?

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Speaker 1: Is that three generations back? You know? Sometimes when I

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Speaker 1: take a family history, people will say, Oh, my immediate

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Speaker 1: family doesn't have any cancer, but I have some aunts

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Speaker 1: and uncles that may have had cancer. So what do

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Speaker 1: women need to know about their family history.

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Speaker 3: So this is such an important point, is knowing your

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Speaker 3: family history and knowing this in more detail than previously

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Speaker 3: has been understood. It's important to know who had cancer

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Speaker 3: at what ages, going back three generations, as we say,

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Speaker 3: so looking at cousins and grandparents and more distant relatives

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Speaker 3: is extremely important. The second thing is that it's not

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Speaker 3: just breast cancer. For br SA one and ber C two,

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Speaker 3: those stand for breast cancer one and breast cancer two

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Speaker 3: because we're just not creative, so BRCA one and BRSA two.

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Speaker 3: But when we speak about those two specific genes, which

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Speaker 3: are the most common cause of reditary breast and ovarian cancer,

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Speaker 3: the cancers that are seen are breast cancer, ovarian cancer,

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Speaker 3: pancreatic cancer, and prostate cancer. So really having a complete understanding.

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Speaker 3: In addition, as you're alluding to, people in past generations

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Speaker 3: didn't necessarily talk about cancer, so finding out why Aunt

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Speaker 3: Martha died at forty is really important even if the

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Speaker 3: family didn't talk about it. So having an open conversation

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Speaker 3: with your relatives about the family history. And by the way,

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Speaker 3: genetics isn't just about BERC one and two. People die

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Speaker 3: of colon cancer and they're in colon cancer susceptibility genes,

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Speaker 3: there's early onset cardiovasclar issues. And finally, individuals who are

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Speaker 3: Ashkenazi Jewish descent have a much higher chance of having

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Speaker 3: a BRC one or two mutation. That risk is one

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Speaker 3: in forty as opposed to one in two hundred in

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Speaker 3: the general population. So knowing your ethnicity, knowing your family

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Speaker 3: history are all really important.

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Speaker 1: Let's tat a little bit about if a Broka wan

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Speaker 1: or brock A two gene mutation is being passed down

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Speaker 1: the father side of the family, it can be a

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Speaker 1: little bit more challenging to look at, right because your

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Speaker 1: father is not going to get ovarian cancer. He may

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Speaker 1: get breast cancer, but it can make it a little

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Speaker 1: bit more challenging to look at these family histories and

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Speaker 1: interpret them. Can you just talk about that a little bit.

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Speaker 3: In the past, people felt that it was only the

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Speaker 3: mother's side that mattered, that it was only breast cancer

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Speaker 3: that mattered when you were thinking about family history and

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Speaker 3: the risk of having a genetic susceptibility. But none of

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Speaker 3: that is true. You're really looking at both sides of

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Speaker 3: the family. Fifty percent of all cancer genetic susceptibility genes.

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Speaker 3: They will come from the dad, not the mom. If

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Speaker 3: you line up every r C mutation carry in the world,

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Speaker 3: half our men. And we can't emphasize this point enough

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Speaker 3: since it's so often missed. So we can see families

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Speaker 3: which are really male dominated in which there's a ton

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Speaker 3: of early on set prostate cancer, and that is justice concerning.

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Speaker 3: It's also important to recognize that family size matters. So

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Speaker 3: if it's just your dad and he was an only

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Speaker 3: child and his father was an only child, cancer susceptibility

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Speaker 3: genes can be hidden in those types of families. I

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Speaker 3: want to also emphasize, and this may be a different point,

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Speaker 3: that we have lower and lower thresholds to do genetic

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Speaker 3: testing all the time, so sometimes we get a little

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Speaker 3: caught up in these issues of the exact family history

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Speaker 3: that we meet for genetic testing. But really it's just

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Speaker 3: a matter of knowing anything about your family history, including well,

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Speaker 3: I have a tiny family on my dad's side and

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Speaker 3: I am concerned about having a genetic susceptibility for whatever reason.

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Speaker 3: We also recognize that not everybody knows their family history

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Speaker 3: if they're adopted, or for instance, the Holocaust may have

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Speaker 3: taken out an entire generation, so we have a much

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Speaker 3: lower threshold for testing in those situations.

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Speaker 1: When we talk about this generic genetic testing for cancer,

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Speaker 1: what are we talking about in.

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Speaker 3: The old days, if you will, you know, fifteen years ago,

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Speaker 3: we would be testing for two genes, generally BARC one

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Speaker 3: and br C two. But what we've learned since the

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Speaker 3: nineties is that there are other genes that are also

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Speaker 3: associated with breast cancer. One of those is pretty like beer,

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Speaker 3: say one and two. It's called PALBI two. But there

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Speaker 3: are some other genes, notably genes called CHECK two and ATM,

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Speaker 3: which increase your risk of breast cancer only modestly. So

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Speaker 3: with beer, say one and two, that lifetime risk is

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Speaker 3: seventy percent, with check two it's about twenty to twenty

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Speaker 3: five percent. So now when people get genetic testing, they

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Speaker 3: are almost never tested for just two genes. They're tested

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Speaker 3: for a panel of genes that will include not only

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Speaker 3: beer say one and two, but other genes associated with

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Speaker 3: breast cancer risk. There's colon cancer susceptibility genes as well.

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Speaker 3: There's kidney cancer susceptibility genes. So in general, we send

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Speaker 3: sort of a panel of genes that hits the most

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Speaker 3: common cancers. The specific genes on those panels are looking

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Speaker 3: for what we call a pathogenic variant otherwise and as

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Speaker 3: a mutation in a gene that basically makes the protein

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Speaker 3: not function and that's what increases the risk of cancer.

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Speaker 1: And these genes that we're testing for are pretty much

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Speaker 1: all what we call tumor suppressor genes.

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Speaker 3: Correct. That's correct. So what we mean by that is

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Speaker 3: that all of us are born with two copies of

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Speaker 3: each gene and in general cancer sceptibility genes. Say, beer

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Speaker 3: SA one is good. Beer C one actually helps ourselves

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Speaker 3: repair a specific type of DNA damage called bubble strand

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Speaker 3: and break. So BERSA one and ber C two are

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Speaker 3: good for us. They help us. It's only when we

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Speaker 3: lose them where you are at increased risk or cancer.

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Speaker 1: I just want to pause for a moment here and

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Speaker 1: walk you through this. These concepts can feel so overwhelming

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Speaker 1: and frankly terrifying for women who are trying to better

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Speaker 1: understand their family history and their own risk. So you

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Speaker 1: might have been surprised to hear doctor Domchek say Brako

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Speaker 1: one and Broko two are good for us. But she's right,

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Speaker 1: Broca genes aren't cancer causing genes. They're cancer preventing genes.

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Speaker 1: They're actually helpful. They protect us by fixing damaged DNA.

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Speaker 1: Like doctor John Chuck said, we're all born with two

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Speaker 1: copies of those genes. People with Brocca mutations have a

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Speaker 1: broken copy of the gene. Most of the time, that

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Speaker 1: one working copy is enough to keep you safe, but

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Speaker 1: if something happens to damage or turn off that second

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Speaker 1: working copy, then you don't have any protection. When working properly,

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Speaker 1: these genes literally suppress tumors. You can imagine. It's almost

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Speaker 1: like having security guards that keep cancer from getting in.

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Speaker 1: Only when you lose both guards can cancer develop. Briefly,

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Speaker 1: what can you tell us about the biology of inherited cancers.

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Speaker 1: They're a little different. They present a little bit earlier,

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Speaker 1: so people a little bit younger when they're diagnosed, and

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Speaker 1: they may have a little bit of a better outcome

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Speaker 1: to treatment. Correct.

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Speaker 3: Yeah, it's a great point, and this is where not

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Speaker 3: all genetic susceptibility is equal. BRSA one is different than

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Speaker 3: Chuck two. And the reason I emphasize this is because

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Speaker 3: when we lump it all together, patients can make decisions

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Speaker 3: that may not make sense for them. So it's really

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Speaker 3: important to get gene specific information. BRSA one and two

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Speaker 3: related cancers generally do occur earlier. The median onset of

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Speaker 3: the cancers is in the early forties. But you're right

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Speaker 3: that these tumors for BARSA one and two do seem

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Speaker 3: to be more sensitive to chemotherapy, and so specifically, an

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Speaker 3: ovarian cancer outcome is better with ovarian cancer if you

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Speaker 3: have a br SA one art mutation. In breast cancer,

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Speaker 3: it's kind of complicated because of the different types of

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Speaker 3: breast cancer, but in ovarian cancer that prognosis is clearly

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Speaker 3: better if you have a BRSA one on mutation. So

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Speaker 3: the reason people with cancer should be tested is because

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Speaker 3: we have drugs available that we can give them that

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Speaker 3: will make their cancer do better. Every single person with

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Speaker 3: ovarian cancer needs to have testing. Every single person with

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Speaker 3: pancreatic cancer, with metastatic prostate cancer. That's enough. We don't

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Speaker 3: have to think for a minute about family history. Those

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Speaker 3: are sufficient for people to get genetic testing for breast cancer. Absolutely,

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Speaker 3: anyone under fifty and more recently sort of anyone under

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Speaker 3: sixty five is a candidate for genetic testing, and anyone

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Speaker 3: with a certain type of breast cancer called triple negative

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Speaker 3: breast cancer should get genetic testing. We should not leave

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Speaker 3: a single person in those categories behind. They should all

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Speaker 3: get genetic testing. At big academic medical centers. We're doing

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Speaker 3: better and better. We keep track of our metrics, and

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Speaker 3: we're at over eighty percent in any of those, but

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Speaker 3: across the country those numbers are terrible. For ovarian cancer,

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Speaker 3: it's under fifty percent, and it's hard to imagine why

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Speaker 3: that is, because it actually helps us make decisions about therapy.

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Speaker 3: So if anyone out there that's listening, if you fall

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Speaker 3: into any of those groups, or any of your family

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Speaker 3: members DOE, you absolutely should get genic testing.

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Speaker 1: Let's face it, getting a cancer diagnosis is devastating, but

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Speaker 1: a better understanding of any underlying genetic cause can significantly

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Speaker 1: improve treatment outcomes coming up. If genetic testing can save lives,

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Speaker 1: why are we all getting it done? Decoding women's health

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Speaker 1: will be right back. Welcome back to Decoding women's health.

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Speaker 1: You might be surprised to learn, as I was, that

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Speaker 1: even when genetic testing is offered, many people are slow

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Speaker 1: to take it up. Doctor Susan Donchek has been engaged

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Speaker 1: in some really important work around this.

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Speaker 3: Increasingly, there's discussion about what we call population screening, which

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Speaker 3: is offering everybody if you will be or s one

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Speaker 3: and two testing. The complications with that is that it's

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Speaker 3: not entirely clear how many people really want to do

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Speaker 3: that right now, and also how we actually will get

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Speaker 3: it done. We've done some studies to offer genetic testing

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Speaker 3: to if you will, anyone who's of Ashkenazi Jewish descent.

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Speaker 3: The uptake wasn't as much as we thought. We did

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Speaker 3: a study a few years ago testing about four thousand

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Speaker 3: individuals in that situation, and they didn't have to have

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Speaker 3: any family history. We thought it would take about three

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Speaker 3: months to test four thousand people in for cities, and

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Speaker 3: it took us three years. And other data have really

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Speaker 3: suggested that it matters if your doctor recommends this to you.

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Speaker 3: And this is why this is so important to get out.

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Speaker 3: We need to educate patients people out there in the

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Speaker 3: community about the potential risk, and we also need to

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Speaker 3: educate for to have a really low threshold to do

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Speaker 3: genetic testing if there's a family history or again if

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Speaker 3: people are of Ashkenazi Jewish to sent we're just going

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Speaker 3: to the electronic health record and pulling out individuals who've

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Speaker 3: told their providers that they have a family history and

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Speaker 3: sending them messages saying you should consider getting genetic testing.

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Speaker 3: And just in our preliminary data, just that simple effort,

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Speaker 3: twenty five percent of people schedule appointments to get genetic testing.

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Speaker 3: So people are interested, they just don't know about it.

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Speaker 3: I think that we can use simple solutions of asking

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Speaker 3: people at the right time and then immediately referring them

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Speaker 3: to genetics. Our primary care doctors have a lot to do,

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Speaker 3: so this idea that we can expect them to also

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Speaker 3: do a great screening for these things and get people tested.

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Speaker 3: It might happen, but it's a lot we need to

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Speaker 3: help our primary care doctors.

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Speaker 1: About what age did you start to consider genetic testing?

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Speaker 1: Twenty two to twenty five.

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Speaker 3: There's really two reasons to test. The first reason is

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Speaker 3: because you're going to change your medical decision making, and

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Speaker 3: for most cancer susceptibility genes, you know, we don't start

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Speaker 3: doing anything different medically until age twenty five. That's when

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Speaker 3: we start. For instance, restmeris for BERC one mutation cares. Now,

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Speaker 3: there are sometimes where there's a particularly early onset in

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Speaker 3: the family where we would potentially do it earlier, but

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Speaker 3: in general, we have twenty five in our heads. There's

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Speaker 3: another reason to get genetic testing for BRSA one two

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Speaker 3: and other cancer sceptibility genes, and that's for reproductive decision making,

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Speaker 3: and that takes on two different pieces. One pre implantation

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Speaker 3: genetic testing, So this is when individuals go through in

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Speaker 3: vitro fertilization, screen the embryos and only reimplant the embryos

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Speaker 3: that don't have the BRC one or BRC two mutation. Well,

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Speaker 3: some people are not interested in this, but this technology

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Speaker 3: is available. So there are times that you know, women

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Speaker 3: are interested in starting their families before their twenty five

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Speaker 3: So that's another reason to consider screening. In addition, several

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Speaker 3: of the genes that we're talking about, and I'll give

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Speaker 3: br C two as an example. In rare situations, a

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Speaker 3: baby can inherit two bad copies of ber C two,

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Speaker 3: one from each parent, and when that occurs, there's a

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Speaker 3: twenty five percent chance that the baby will have a

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Speaker 3: condition called fincnianemia, which is a serious medical condition. So

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Speaker 3: these are all reasons to consider genetic testing sort of

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Speaker 3: at the time you're starting to think about your family

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Speaker 3: or medical decision making, and so that matters for the

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Speaker 3: men too, because in general, we don't really start much

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Speaker 3: for men in terms of their personal screening until closer

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Speaker 3: to forty, but when they're ready to start having their children.

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Speaker 3: If one of their parents has a BERC mutation, then

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Speaker 3: we certainly talk about screening before they start having their kids.

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Speaker 3: So I think it's really important that people know that

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Speaker 3: even if their doctor doesn't bring it up, that it

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Speaker 3: still may be real to them, and that they can

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Speaker 3: either talk to their doctors about it they're gynecologists, a

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Speaker 3: primary care doctor, or see a genetic counselor for testing.

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Speaker 3: There are also direct to consumer approaches to genetic testing,

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Speaker 3: where people can just go online and order the tests themselves.

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Speaker 3: There are pros and cons to those approaches, but right

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Speaker 3: now you know it's all hands on deck. There are

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Speaker 3: multiple ways to get this testing done, and we should

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Speaker 3: make sure that people know about all of them.

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Speaker 1: I took the direct to consumer route myself. There are

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Speaker 1: plenty of companies that offer easy to use at home

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Speaker 1: testing kits that you can just mail in and get

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Speaker 1: the results online. The benefit is that it's quick, easy,

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Speaker 1: and relatively inexpensive. The problem is is that you don't

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Speaker 1: have guidance and support necessarily that comes with getting tested

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Speaker 1: with a personal physician. So if you go this route,

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Speaker 1: I strongly advise connecting with the genetic counselor beforehand. Even

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Speaker 1: if you think that you're prepared to learn that you

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Speaker 1: carry a genetic mutation, actually getting that result can still

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Speaker 1: pack a huge emotional punch. Having an expert in your

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Speaker 1: corner helps you understand what the result means and what

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Speaker 1: steps to take next. The National Society of Genetic Counselors

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Speaker 1: has a registry where you can find professionals to guide you.

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Speaker 1: Having said that, in an ideal world, everyone would be

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Speaker 1: guided through genetic testing in person by a physician they trust,

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Speaker 1: but one of the barriers to this sort of testing

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Speaker 1: for many patients is cost. In some cases, patients can

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Speaker 1: get the testing paid for by their insurance. The National

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Speaker 1: Comprehensive Cancer Network provides guidelines for testing that include the

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Speaker 1: big factors that we've discussed today, If you're of Ashkenizi

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Speaker 1: Jewish descent, if you've had blood relatives with a confirmed

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Speaker 1: cancer causing gene variant, or if you or a family

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Speaker 1: member has a personal history of a rare or multiple cancers.

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Speaker 1: I asked doctor Domchek, what about patients are women who

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Speaker 1: don't fall into these categories.

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Speaker 3: If people don't meet those guidelines at most labs, there

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Speaker 3: are still self pay options that cost about three hundred dollars.

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Speaker 3: But I will say that navigating this can sometimes be

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Speaker 3: frustrating and complex for patients. So I think that when

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Speaker 3: people meet clear criteria for JANK testing, everything goes through

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Speaker 3: very well. If people are more on the bubble, self

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Speaker 3: pay options are actually going to be cheaper than if

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Speaker 3: you will going through insurance where it may not be

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Speaker 3: covered at.

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Speaker 1: All, for people who may not be able to afford

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Speaker 1: the three hundred dollars. Are you aware of any support

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Speaker 1: services for these individuals?

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Speaker 3: Yes, there are, and oftentimes the labs have held there

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Speaker 3: are various programs that exist. It does get a little

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Speaker 3: bit complicated if people do not have insurance at all.

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Speaker 3: It can be tricky because even if we could get

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Speaker 3: someone free testing, we're not able to then get them

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Speaker 3: the medical care that they need. So that is a

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Speaker 3: big gap right now. Is people who are completely uninsured.

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Speaker 3: We really do struggle because even if we could test them,

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Speaker 3: we would not really be able to care for them,

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Speaker 3: and that doesn't feel great. So hopefully all insurance problems

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Speaker 3: in the United States will be fixed and we won't

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Speaker 3: have to worry about it. But I'm not going to

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Speaker 3: hold my breath right now for that.

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Speaker 1: So a lot of upside to genetic testing allowing you

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Speaker 1: to do some planning, and we'll move into that in

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Speaker 1: just a moment.

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Speaker 3: Any downsides, Sure, this is information that can be extremely

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Speaker 3: difficult to learn. I had a physician once tell me

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Speaker 3: she felt that the genetic testing both saved your life

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Speaker 3: had ruined it. And she didn't really mean ruin it,

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Speaker 3: but she just at dealing with this information making the

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Speaker 3: decisions she had to make well really difficult. And so,

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Speaker 3: first of all, we always like to emphasize that when

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Speaker 3: you get your genetic test result back, if it's positive,

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Speaker 3: that was always there. You were positive from the time

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Speaker 3: you were born. You know, you didn't change on a

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Speaker 3: dime day to day. We also like to talk about

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Speaker 3: lifetime risks. So when we talk about lifetime risk of

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Speaker 3: cancer as highly seventy percent, that's not your risk tomorrow,

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Speaker 3: that's your risk over your whole life. But you can

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Speaker 3: imagine that feeling getting that information is really overwhelming, and

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Speaker 3: so our job is to try to counsel people through it.

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Speaker 3: To focus on the immediate next steps of what needs

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Speaker 3: to happen. Currently, the only effective strategy for a varying

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Speaker 3: cancer risk reduction is early surgery, so premenopausal to me

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Speaker 3: removable of your ovaries before you or otherwise we go

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Speaker 3: into menopause, and that has significant issues for women. We

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Speaker 3: try to get people through it as best we can,

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Speaker 3: but it's still fun to have to consider these things

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Speaker 3: and then deciding whether to continue to screen or do astectomy.

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Speaker 3: That can be challenging for parents to get tested. We

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Speaker 3: see a lot that when individuals get tested that have children,

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Speaker 3: they can feel very sad and sometimes guilty about the

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Speaker 3: potential that they've passed this belong to their children. Of course,

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Speaker 3: we all pass along good and bad genes to our kids.

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Speaker 3: In this case, you just kind of know what it is.

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Speaker 3: But these are real issues that we know that people

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Speaker 3: struggle with, and our job is to try to help

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Speaker 3: people through this time and really focus on the fact

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Speaker 3: that this information can be life saving, but at the

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Speaker 3: same time acknowledge the grief that's involved in having to

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Speaker 3: make these decisions.

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Speaker 1: So I'm diagnosed with the bracket one mutation in twenty

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Speaker 1: twenty five, what does taking action look like as a

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Speaker 1: younger woman, as a primin apausal woman.

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Speaker 3: Yes, and so in twenty twenty five, there are clear

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Speaker 3: things that women can do, but we are actively hoping

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Speaker 3: for better options. So right now, at twenty five, all

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Speaker 3: someone needs to do is get a breast MRI once

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Speaker 3: a year. The risk of developing breast cancer prior to

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Speaker 3: age thirty when you're a twenty five year old beer

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Speaker 3: C one mutation carries less than five percent, but that's

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Speaker 3: still much higher than an average woman. So brust emri

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Speaker 3: once a year. At thirty, we have to mammogram, so

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Speaker 3: that every six months you're getting an MRI or a mammogram. Unfortunately,

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Speaker 3: between age thirty five and forty women should undergo remove

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Speaker 3: all the pilopian tubes and ovaries. So this is for

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Speaker 3: bars one now. Risk reducing mass tec to me or

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Speaker 3: prophylactic masks tec to me can be done at any

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Speaker 3: time with an individual with a br c in one

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Speaker 3: or two or other gene mutations. Some women are not

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Speaker 3: interested in mask tec tomy at all and will continue screening,

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Speaker 3: so we like to have an honest conversation about their

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Speaker 3: goals about body image, about sexuality, and other quality of

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Speaker 3: life issues as people make their decisions.

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Speaker 1: What about just removal of the pelopian tubes alone, without

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Speaker 1: removing the ovaries. Is that data mature enough for us

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Speaker 1: to make that recommendation now?

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Speaker 3: Not? Yeah, but boy, I want it to be.

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Speaker 1: So.

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Speaker 3: The theory behind this, as you're alluding to, is that

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Speaker 3: there's data that many ovarian cancers arise in the philopian

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Speaker 3: tube and that potentially if we just remove the philippian tubes,

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Speaker 3: we can decrease the risk of ovarian cancer. And there's

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Speaker 3: some interesting sort of data out there, including a study

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Speaker 3: that's being done in British Columbia where every woman who's

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Speaker 3: coming in to have her tubes tied just has their

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Speaker 3: tubes removed, and again the very early data suggests that

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Speaker 3: there's a decrease in ovarian cancer risk. We call that

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Speaker 3: an opportunistic salve in theectimy. So that I think nobody

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Speaker 3: should have their tubes tied anymore, you know, in the

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00:25:38,330 --> 00:25:41,209
Speaker 3: general population or beer sacres, they should have their tubes

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Speaker 3: removed if they're using that for their family planning and

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Speaker 3: first control. The question becomes in beer sacres, how certain

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Speaker 3: are we about this? Because again, ovarian cancer has no

435
00:25:51,890 --> 00:25:55,730
Speaker 3: effective screening and Most women who are diagnosed with ovarian

436
00:25:55,770 --> 00:25:58,090
Speaker 3: cancer are diagnosed at elite stage, and most women with

437
00:25:58,290 --> 00:26:00,929
Speaker 3: a late stage ovarian cancer die of their disease. So

438
00:26:01,050 --> 00:26:03,450
Speaker 3: this is where the challenge is. The studies are ongoing,

439
00:26:03,970 --> 00:26:06,810
Speaker 3: but when will we feel strong enough to recommend that

440
00:26:06,850 --> 00:26:10,010
Speaker 3: as a routine care when we know how bad ovarian

441
00:26:10,010 --> 00:26:13,930
Speaker 3: cancer is. Right now, again, we don't have data sufficient

442
00:26:13,970 --> 00:26:17,409
Speaker 3: to tell people that they can avoid having their ovaries removed.

443
00:26:17,410 --> 00:26:19,570
Speaker 3: So what we're seeing more and more of is that

444
00:26:19,730 --> 00:26:21,889
Speaker 3: a b r C one Karen might have her twos

445
00:26:21,930 --> 00:26:24,650
Speaker 3: removed at thirty five and then her ovaries removed at forty.

446
00:26:24,850 --> 00:26:27,490
Speaker 3: For a br C two care, that's more like forty

447
00:26:27,530 --> 00:26:28,210
Speaker 3: and forty five.

448
00:26:28,570 --> 00:26:29,850
Speaker 1: When do you think that data is going to be

449
00:26:29,890 --> 00:26:32,609
Speaker 1: mature five years, ten years, twenty years.

450
00:26:32,930 --> 00:26:36,530
Speaker 3: Here's my worry that if people are getting their twos

451
00:26:36,609 --> 00:26:39,169
Speaker 3: removed at thirty five and then they still get their

452
00:26:39,210 --> 00:26:42,690
Speaker 3: ovaries removed at forty one, we won't have the data.

453
00:26:43,369 --> 00:26:46,369
Speaker 3: People have to keep their ovaries in long enough for

454
00:26:46,490 --> 00:26:49,530
Speaker 3: us to prove it works right sort of past forty

455
00:26:49,530 --> 00:26:51,890
Speaker 3: five or even un till each fifty. And I think

456
00:26:52,010 --> 00:26:54,170
Speaker 3: this is the tension I always have in the clinic

457
00:26:54,770 --> 00:26:57,810
Speaker 3: I'm really a clinician. First, I'm taking care of my patients.

458
00:26:58,090 --> 00:27:01,410
Speaker 3: I'm a bit of a researcher. Second, for my patients,

459
00:27:01,530 --> 00:27:03,530
Speaker 3: I don't want her to keep her overrays in. But

460
00:27:03,690 --> 00:27:07,050
Speaker 3: from a research perspective, and less enough people continue to

461
00:27:07,129 --> 00:27:08,890
Speaker 3: keep their ovaries, we're not going to have the data.

462
00:27:08,970 --> 00:27:11,010
Speaker 3: So I think it's going to be a little bit tricky,

463
00:27:11,290 --> 00:27:13,369
Speaker 3: and it might be a little bit entirely.

464
00:27:15,410 --> 00:27:17,689
Speaker 1: Once I found out that I was a Brocco one carrier,

465
00:27:18,090 --> 00:27:22,170
Speaker 1: the decision to remove my uterus, ovaries and fallopian tubes

466
00:27:22,170 --> 00:27:25,770
Speaker 1: for me was straightforward. I was older, I'd already had

467
00:27:25,850 --> 00:27:31,330
Speaker 1: children and experienced menopause. For younger women, making the same

468
00:27:31,410 --> 00:27:35,410
Speaker 1: choice means two things. First, no further chance to conceive,

469
00:27:36,090 --> 00:27:40,369
Speaker 1: and second, entering menopause overnight. These are big decisions and

470
00:27:40,410 --> 00:27:43,330
Speaker 1: surgery might not be the best course of action for everyone.

471
00:27:44,690 --> 00:27:47,290
Speaker 1: When we come back from the break, we'll discuss other

472
00:27:47,330 --> 00:27:50,850
Speaker 1: preventive strategies for women to lower their risk, and we'll

473
00:27:50,890 --> 00:27:55,010
Speaker 1: talk about some groundbreaking new treatments on the horizon. More

474
00:27:55,090 --> 00:27:58,290
Speaker 1: from my conversation with Darja Susan Domchek in just a moment.

475
00:28:11,650 --> 00:28:14,369
Speaker 1: Welcome back to the show. I'm speaking with doctor Susan

476
00:28:14,450 --> 00:28:18,209
Speaker 1: damchek All about genetic testing. Her work is at the

477
00:28:18,250 --> 00:28:22,010
Speaker 1: forefront of cancer prevention, cutting edge strategies that seek to

478
00:28:22,010 --> 00:28:25,490
Speaker 1: stop cancer in its earliest stages. But before we get

479
00:28:25,490 --> 00:28:28,449
Speaker 1: to that, I wanted to ask doctor Domck about some

480
00:28:28,609 --> 00:28:33,250
Speaker 1: newer methods for identifying genetic risk. Let's move into just

481
00:28:33,290 --> 00:28:35,570
Speaker 1: the different types of genetic testing that are out there

482
00:28:35,609 --> 00:28:39,050
Speaker 1: now in terms of polygenic risk scores and whole genome sequencing.

483
00:28:39,570 --> 00:28:42,290
Speaker 1: Can you speak to these newer forms of genetic testing

484
00:28:42,330 --> 00:28:42,770
Speaker 1: a little bit?

485
00:28:42,930 --> 00:28:46,330
Speaker 3: Sure, So let's start with polygenic risk scores. And but

486
00:28:46,450 --> 00:28:50,850
Speaker 3: that is a single alteration in FUERCA one increases your

487
00:28:50,930 --> 00:28:53,610
Speaker 3: risk of breast cancer by up to seventy percent. It

488
00:28:53,650 --> 00:28:56,650
Speaker 3: increases your risk google veering cancer up to forty five percent.

489
00:28:57,250 --> 00:29:03,170
Speaker 3: Polygenic risk scores look at small, little changes throughout your DNA.

490
00:29:03,690 --> 00:29:07,330
Speaker 3: The challenges of polygenic risk scores are that they're very

491
00:29:07,410 --> 00:29:11,610
Speaker 3: dependent on ethnicity, and so in the United States when

492
00:29:11,650 --> 00:29:15,970
Speaker 3: people are often sort of ethnically diverse, we haven't really

493
00:29:16,050 --> 00:29:19,370
Speaker 3: figured it all out yet. Okay, So moving on a

494
00:29:19,410 --> 00:29:22,970
Speaker 3: whole genome. So what is that? So, just as a reminder,

495
00:29:23,210 --> 00:29:26,730
Speaker 3: we have a certain number of genes over twenty thousand.

496
00:29:26,770 --> 00:29:30,250
Speaker 3: But when we test for genetics astibility, what we usually

497
00:29:30,370 --> 00:29:34,370
Speaker 3: do is focus on genes known to be associated with cancer.

498
00:29:34,450 --> 00:29:36,290
Speaker 3: So that can be a twenty five gene panel or

499
00:29:36,290 --> 00:29:39,050
Speaker 3: an eighty gene panel or something like that. There is

500
00:29:39,130 --> 00:29:42,370
Speaker 3: an approach that you can take called whole xome sequencing,

501
00:29:42,650 --> 00:29:46,530
Speaker 3: which just sequences the known genes, but it sequences all

502
00:29:46,610 --> 00:29:50,290
Speaker 3: the nome genes. And then there's whole genome sequencing, which

503
00:29:50,410 --> 00:29:54,490
Speaker 3: sequences the whole genome. If you do a whole xome sequencing,

504
00:29:54,850 --> 00:29:57,890
Speaker 3: you will find stuff. Most of us have stuff. The

505
00:29:58,050 --> 00:30:02,050
Speaker 3: question then becomes does that stuff matter? And it might

506
00:30:02,210 --> 00:30:05,570
Speaker 3: seem obvious that that stuff should matter, right that if

507
00:30:05,610 --> 00:30:09,050
Speaker 3: you find something that it obviously should matter. But it

508
00:30:09,130 --> 00:30:13,250
Speaker 3: turns out that genetics is not that simple as we

509
00:30:13,370 --> 00:30:16,970
Speaker 3: sometimes say. Genetics is not destiny. Just because you have

510
00:30:17,130 --> 00:30:20,250
Speaker 3: an alteration in some finding doesn't mean that you're going

511
00:30:20,330 --> 00:30:22,530
Speaker 3: to get that condition. And there are a lot of

512
00:30:22,650 --> 00:30:26,370
Speaker 3: genes where the risks associated with those genetic mutations aren't

513
00:30:26,450 --> 00:30:30,250
Speaker 3: very high. An example I'll give is something called SDHA

514
00:30:30,930 --> 00:30:34,330
Speaker 3: alterations in that gene predispose you to certain types of

515
00:30:34,490 --> 00:30:37,450
Speaker 3: rare tumors, but the risk of that happening if you

516
00:30:37,530 --> 00:30:41,490
Speaker 3: have an SDHA mutation is less than five percent. So

517
00:30:41,690 --> 00:30:45,490
Speaker 3: if we identify someone with that, generally speaking, we don't

518
00:30:45,610 --> 00:30:48,770
Speaker 3: do anything about it unless there's a family history consistent

519
00:30:48,850 --> 00:30:51,410
Speaker 3: with it. I'm only using that as an example to

520
00:30:51,530 --> 00:30:54,250
Speaker 3: show how you can get into trouble with things like

521
00:30:54,330 --> 00:30:57,330
Speaker 3: collexm and whole genome sequencing, which is we're going to

522
00:30:57,370 --> 00:31:00,130
Speaker 3: find a lot of stuff, but we won't necessarily know

523
00:31:00,330 --> 00:31:02,770
Speaker 3: exactly how to use it for that individual patient.

524
00:31:03,090 --> 00:31:06,090
Speaker 1: Let's move into prevention strategies, right for the woman who's

525
00:31:06,130 --> 00:31:10,010
Speaker 1: not ready for prophylactic surgery, undergoing some screening, birth control pills,

526
00:31:10,330 --> 00:31:13,130
Speaker 1: even life style. What are the impact of these strategies

527
00:31:13,170 --> 00:31:15,250
Speaker 1: for women who carry brocka wan and Brocketo mutation.

528
00:31:15,690 --> 00:31:18,450
Speaker 3: I think lifestyle is you know, the effects in berca

529
00:31:18,530 --> 00:31:20,930
Speaker 3: in one and two mutation carriers may be modest, just

530
00:31:21,050 --> 00:31:23,970
Speaker 3: because the genetics stuff is driving a lot of the risk.

531
00:31:24,210 --> 00:31:29,930
Speaker 3: Having said that, healthy weight, minimizing alcohol, regular exercise, not smoking,

532
00:31:30,050 --> 00:31:33,610
Speaker 3: these are all excellent things to do for women. There's

533
00:31:33,770 --> 00:31:36,290
Speaker 3: a lot of debate about what safe level of alcohol is,

534
00:31:36,370 --> 00:31:39,209
Speaker 3: but there has been some suggestion that you know, up

535
00:31:39,290 --> 00:31:41,770
Speaker 3: to three drinks a week. The risk is very very low,

536
00:31:42,490 --> 00:31:44,970
Speaker 3: so that's lifestyle always a good thing to do. The

537
00:31:45,090 --> 00:31:49,530
Speaker 3: data for medications such as tamoxifin, loxifen, and another drug

538
00:31:49,610 --> 00:31:52,490
Speaker 3: called exemesting in terms of decreasing the risk of breast

539
00:31:52,530 --> 00:31:55,810
Speaker 3: cancer is limited in beer CA carriers, although it does

540
00:31:55,930 --> 00:31:58,850
Speaker 3: seem like there is an impact in terms of ovarian

541
00:31:58,930 --> 00:32:03,209
Speaker 3: cancer risk reduction. Oral contraceptive pills do seem to decrease

542
00:32:03,250 --> 00:32:06,130
Speaker 3: the risk of a virile cancer. They also do slightly

543
00:32:06,290 --> 00:32:09,450
Speaker 3: increase the risk of breast cancer, so it's a risk

544
00:32:09,530 --> 00:32:15,450
Speaker 3: benefit decision. People have endometriosis or terrible heavy bleeding or

545
00:32:15,850 --> 00:32:18,530
Speaker 3: just really terrible cycles in general, and birth control pills

546
00:32:18,570 --> 00:32:21,770
Speaker 3: are really helpful or they need birth control, and particularly

547
00:32:21,850 --> 00:32:23,930
Speaker 3: in this day and age in the United States, it's

548
00:32:23,970 --> 00:32:26,530
Speaker 3: really important that people have access to affective birth control.

549
00:32:27,370 --> 00:32:31,130
Speaker 3: So the birth control discussion with the risk benefit profile

550
00:32:31,250 --> 00:32:34,610
Speaker 3: just needs to be individualized, so no easy answers there.

551
00:32:35,050 --> 00:32:38,890
Speaker 3: We're obviously really interested in other approaches, so this new

552
00:32:39,010 --> 00:32:42,250
Speaker 3: era of getting people better options is super important.

553
00:32:42,690 --> 00:32:46,130
Speaker 1: Screening strategies, so breast screening is pretty well established with

554
00:32:46,330 --> 00:32:52,410
Speaker 1: MRI mammogram ultrasound ovarian cancer screening a mind filled anything

555
00:32:52,490 --> 00:32:53,490
Speaker 1: that you're excited about.

556
00:32:53,810 --> 00:32:56,410
Speaker 3: Oh, varian cancer screening, it's just so difficult. As you know,

557
00:32:56,530 --> 00:33:00,010
Speaker 3: we've been through other blood tests in the distant past, overshore,

558
00:33:00,130 --> 00:33:02,290
Speaker 3: overseek over one, and I don't even remember all the

559
00:33:02,370 --> 00:33:05,130
Speaker 3: OVAs that came and went over the years that weren't

560
00:33:05,130 --> 00:33:08,890
Speaker 3: good tests. You know, I think that these new multi

561
00:33:08,970 --> 00:33:12,850
Speaker 3: cancer early detection tests are interesting but as yet unproven

562
00:33:13,090 --> 00:33:18,610
Speaker 3: and ovarying cancer early detection. This is why, unfortunately everyone

563
00:33:18,730 --> 00:33:23,330
Speaker 3: feels so strongly still about removal of the oversease. It's

564
00:33:23,370 --> 00:33:26,530
Speaker 3: because we don't have this well established the issue of

565
00:33:26,570 --> 00:33:30,130
Speaker 3: transnagal ultrasend. They really just don't work very well at all,

566
00:33:30,650 --> 00:33:33,410
Speaker 3: and there's a lot of false positives associated with them

567
00:33:33,490 --> 00:33:36,890
Speaker 3: because pre menopausal women have all sorts of cysts depending

568
00:33:36,930 --> 00:33:39,730
Speaker 3: on the timing of their cycle. So you know, the

569
00:33:39,850 --> 00:33:42,370
Speaker 3: guidelines have sort of been all over the map given

570
00:33:42,410 --> 00:33:45,650
Speaker 3: the absence of data. But a common strategy is to

571
00:33:45,690 --> 00:33:48,690
Speaker 3: start ovarian cancer screening sort of at the time you

572
00:33:48,730 --> 00:33:52,250
Speaker 3: would start considering removal of the ovarias, so like thirty

573
00:33:52,290 --> 00:33:54,730
Speaker 3: five for BARC one or forty for br C two,

574
00:33:55,290 --> 00:33:57,890
Speaker 3: in which case a false positive that led you down

575
00:33:57,970 --> 00:34:00,610
Speaker 3: to removal of the ovarias. I'm not saying is not

576
00:34:00,730 --> 00:34:03,250
Speaker 3: so bad because it's we're still taling with the impact,

577
00:34:03,490 --> 00:34:05,250
Speaker 3: but it's in the range that we would consider that.

578
00:34:05,370 --> 00:34:08,130
Speaker 3: So I'm curious about your approach to it, but that's

579
00:34:08,210 --> 00:34:10,130
Speaker 3: often the approach that we take in the absence of

580
00:34:10,170 --> 00:34:10,650
Speaker 3: better data.

581
00:34:11,050 --> 00:34:15,730
Speaker 1: I'm looking forward to research and development of new screening tools.

582
00:34:15,850 --> 00:34:19,370
Speaker 1: I think that you know twenty five ultracent. We use them,

583
00:34:19,490 --> 00:34:22,290
Speaker 1: employ them, but realize that they're limited. But as the

584
00:34:22,330 --> 00:34:25,090
Speaker 1: best we can do. Have to be super careful though

585
00:34:25,130 --> 00:34:29,450
Speaker 1: in terms of caution, interpretation of results, really really really careful.

586
00:34:29,890 --> 00:34:32,130
Speaker 1: But I want to get into your really exciting work

587
00:34:32,210 --> 00:34:35,930
Speaker 1: with cancer interception and cancer vaccines. You know, our family

588
00:34:36,050 --> 00:34:38,730
Speaker 1: history is pancreas cancer. You can't take out you're pancreas,

589
00:34:38,970 --> 00:34:42,450
Speaker 1: and screening for pancreas cancer is limited and not well proven.

590
00:34:42,650 --> 00:34:47,090
Speaker 1: So talk to me about cancer interception and cancer prevention vaccines.

591
00:34:47,490 --> 00:34:50,730
Speaker 3: Yeah. Sure, So this phrase cancer interception, what does it

592
00:34:50,810 --> 00:34:53,650
Speaker 3: even mean anyway, It's a way to try to differentiate

593
00:34:53,810 --> 00:34:56,490
Speaker 3: from prevention. You know, when we talk about prevention, if

594
00:34:56,530 --> 00:34:59,890
Speaker 3: it's a little bit like you don't smoke because smoking

595
00:35:00,170 --> 00:35:03,930
Speaker 3: causes those changes that lead to cancer. Right, So prevention

596
00:35:04,170 --> 00:35:06,770
Speaker 3: is you don't smoke, so you don't even start those changes.

597
00:35:07,490 --> 00:35:10,890
Speaker 3: Cancer interception, which was going by Loose Blackburn and no

598
00:35:11,210 --> 00:35:15,450
Speaker 3: prize winning scientists. It's trying to target the earliest stages

599
00:35:15,490 --> 00:35:18,290
Speaker 3: of cancer development. The cancer has just started, but you

600
00:35:18,370 --> 00:35:21,050
Speaker 3: can't detect it yet, and so that's cancer interception. So

601
00:35:21,170 --> 00:35:24,690
Speaker 3: the idea here is that we try to target those

602
00:35:24,810 --> 00:35:27,570
Speaker 3: first cells that are turning into cancer in a beer

603
00:35:27,650 --> 00:35:30,770
Speaker 3: C carrier, so maybe I've lost the second copy of

604
00:35:30,850 --> 00:35:34,970
Speaker 3: beer C for instance. So when you think about potential strategies,

605
00:35:35,450 --> 00:35:39,530
Speaker 3: one of those strategies could be immune interception. So we

606
00:35:39,850 --> 00:35:42,730
Speaker 3: really have a better understanding over the last you know,

607
00:35:42,890 --> 00:35:47,370
Speaker 3: fifteen plus years that the immune system is incredibly important

608
00:35:47,570 --> 00:35:49,930
Speaker 3: in cancer in a way that would have been you know,

609
00:35:50,090 --> 00:35:52,730
Speaker 3: laughed at twenty five years ago. But we know that

610
00:35:52,850 --> 00:35:56,130
Speaker 3: we can use immune therapies to help treat cancer. So

611
00:35:56,650 --> 00:35:58,970
Speaker 3: one of the strategies that we're trying is to develop

612
00:35:59,010 --> 00:36:03,930
Speaker 3: a vaccine that might develop immune cells that find those

613
00:36:04,010 --> 00:36:07,330
Speaker 3: earliest cancer cells. You know, they're surveying your body and

614
00:36:07,410 --> 00:36:09,610
Speaker 3: then as soon as that cell develops, they they target

615
00:36:09,690 --> 00:36:12,810
Speaker 3: it and kill it. So we recently completed a study

616
00:36:13,170 --> 00:36:17,810
Speaker 3: where we did vaccinate healthy BRC carriers using something called

617
00:36:17,850 --> 00:36:21,530
Speaker 3: the DNA plasmid vaccine. What we were vaccine two isn't

618
00:36:21,570 --> 00:36:24,370
Speaker 3: specific to BRC carriers, but it's the idea that you

619
00:36:24,450 --> 00:36:27,489
Speaker 3: could identify a group that's at a high enough risk

620
00:36:27,850 --> 00:36:31,210
Speaker 3: to try this. So the vaccine was safe, and now

621
00:36:31,330 --> 00:36:34,770
Speaker 3: we're waiting to get the imminology results and then figure

622
00:36:34,770 --> 00:36:36,970
Speaker 3: out our next phase. So that's sort of one approach.

623
00:36:37,290 --> 00:36:40,650
Speaker 3: Let's use the immune system, let's target different types of

624
00:36:41,010 --> 00:36:45,130
Speaker 3: immune strategies. We are also looking at mRNA types of

625
00:36:45,210 --> 00:36:48,810
Speaker 3: approaches to vaccines. I mean, I do not view vaccines

626
00:36:48,810 --> 00:36:50,210
Speaker 3: as a dirty word here, but if you want to

627
00:36:50,250 --> 00:36:53,330
Speaker 3: call it immune interception as opposed to vaccines, I'll take

628
00:36:53,370 --> 00:36:56,970
Speaker 3: that as well. But there's other ways to think about interceptions.

629
00:36:57,050 --> 00:37:01,610
Speaker 3: So let's talk about pancreatic cancer. Pancreatic cancer. The risk

630
00:37:01,650 --> 00:37:04,690
Speaker 3: of pancreatic cancer's highest in br C two rather than

631
00:37:04,770 --> 00:37:07,969
Speaker 3: BRC one mutation carres, although the risk is elevated in both,

632
00:37:08,370 --> 00:37:10,770
Speaker 3: and as you said, pancreatic cancer is a tough cancer.

633
00:37:11,170 --> 00:37:14,130
Speaker 3: We do offer screening with either a endoscopic ulture sound

634
00:37:14,210 --> 00:37:17,090
Speaker 3: or abdominal MRI, but as you mentioned, you know, it

635
00:37:17,250 --> 00:37:20,969
Speaker 3: is limited, but almost all pancreatic cancers develop something called

636
00:37:21,170 --> 00:37:25,330
Speaker 3: k Wrass mutations. So we actually also have work being

637
00:37:25,410 --> 00:37:27,850
Speaker 3: done in the pass Or center looking at whether or

638
00:37:27,890 --> 00:37:31,330
Speaker 3: not k wrass inhibitors in mice can decrease the risk

639
00:37:31,450 --> 00:37:35,170
Speaker 3: of developing pancreatic cancer. So those are some some of

640
00:37:35,250 --> 00:37:37,930
Speaker 3: the ideas that we have. There's other work going on.

641
00:37:38,170 --> 00:37:41,730
Speaker 3: Could we use short doses of apartment hit er, these

642
00:37:41,810 --> 00:37:44,250
Speaker 3: drugs that we use in the advanced cancer setting and

643
00:37:44,410 --> 00:37:47,530
Speaker 3: in high risk breast cancer setting, could we use those

644
00:37:47,690 --> 00:37:52,170
Speaker 3: intermittently to if you will, weed the garden and take

645
00:37:52,250 --> 00:37:55,170
Speaker 3: out all those weeds before they develop into something, right,

646
00:37:55,290 --> 00:37:58,850
Speaker 3: intermittently getting rid of all of those pre cancerous cells.

647
00:37:59,410 --> 00:38:01,930
Speaker 3: So more to come, but it's a really exciting area

648
00:38:02,010 --> 00:38:02,730
Speaker 3: that we're working on.

649
00:38:03,610 --> 00:38:07,410
Speaker 1: If listeners could take away one point from this conversation,

650
00:38:07,890 --> 00:38:09,890
Speaker 1: what would you like it to be to.

651
00:38:09,970 --> 00:38:15,210
Speaker 3: Be proactive about getting your family history taken seriously? I

652
00:38:15,290 --> 00:38:18,850
Speaker 3: think that patients can be, if you will, a little

653
00:38:18,890 --> 00:38:20,610
Speaker 3: put off and be like, oh, don't worry about that.

654
00:38:20,770 --> 00:38:23,410
Speaker 3: That's not enough to get genetic testing. And the fact

655
00:38:23,570 --> 00:38:27,050
Speaker 3: is is that most doctors out there learned about genetic

656
00:38:27,090 --> 00:38:30,290
Speaker 3: testing in medical school, you know, fifteen or twenty years ago,

657
00:38:30,810 --> 00:38:33,410
Speaker 3: and they're not entirely up to date. It's not their fault.

658
00:38:33,490 --> 00:38:35,810
Speaker 3: There's too much to do. But there's a lot of

659
00:38:35,890 --> 00:38:39,010
Speaker 3: resources out there, and you can self refer to a

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00:38:39,050 --> 00:38:42,170
Speaker 3: genetic counselor to get more information if you're not getting

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00:38:42,170 --> 00:38:43,130
Speaker 3: the answers that you want.

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00:38:43,810 --> 00:38:47,610
Speaker 1: Are there resources for our listeners actually in terms of

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00:38:47,730 --> 00:38:49,210
Speaker 1: where they can go to learn more about this.

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00:38:49,650 --> 00:38:52,970
Speaker 3: Yeah, we do at faster dot org so BA s

665
00:38:53,170 --> 00:38:57,010
Speaker 3: ser dot org. We have a lot about why genetic

666
00:38:57,090 --> 00:39:01,090
Speaker 3: testing can be helpful and have provided some resources, including

667
00:39:01,650 --> 00:39:06,490
Speaker 3: any large comprehensive cancer center will have genetic counselors available.

668
00:39:06,930 --> 00:39:10,570
Speaker 3: There are plenty of physicians, gecologists, and primary care directors

669
00:39:10,690 --> 00:39:13,290
Speaker 3: who comfortable with this and do you do it? So

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00:39:13,450 --> 00:39:16,730
Speaker 3: asking your primary care doctor first can always make sense,

671
00:39:17,170 --> 00:39:19,210
Speaker 3: But if your primary care doctor doesn't know a lot

672
00:39:19,250 --> 00:39:22,290
Speaker 3: about it or it's not really offering it to you,

673
00:39:22,410 --> 00:39:24,730
Speaker 3: don't stop there. There are lots of different ways to

674
00:39:24,770 --> 00:39:25,330
Speaker 3: get this done.

675
00:39:29,730 --> 00:39:31,450
Speaker 1: I had cancer and I had seen some of the

676
00:39:31,530 --> 00:39:34,570
Speaker 1: best physicians in the country for treatment. None of them

677
00:39:34,730 --> 00:39:39,490
Speaker 1: ever mentioned to me genetic testing. I am literally a geneticist,

678
00:39:39,570 --> 00:39:42,570
Speaker 1: and I didn't think that this applied to me. If

679
00:39:42,650 --> 00:39:47,730
Speaker 1: you have family members with breast ovarian, pancreatic, or prostate cancer,

680
00:39:48,410 --> 00:39:51,570
Speaker 1: it's worth it to consider genetic testing, even if your

681
00:39:51,610 --> 00:39:55,050
Speaker 1: doctor hasn't suggested it, Even if you've been tested in

682
00:39:55,090 --> 00:39:57,810
Speaker 1: the past a ten years or so, I'd recommend thinking

683
00:39:57,890 --> 00:40:01,930
Speaker 1: about testing again. Technology is getting better and better each day.

684
00:40:02,570 --> 00:40:05,090
Speaker 1: We're aware of more cancer causing genes than we were

685
00:40:05,130 --> 00:40:07,810
Speaker 1: a decade ago, and we have more tools to treat

686
00:40:07,850 --> 00:40:12,410
Speaker 1: those specific diseases. Your health insurance may cover genetic testing

687
00:40:12,450 --> 00:40:14,970
Speaker 1: if you fall into a high risk group, but if not,

688
00:40:15,210 --> 00:40:17,370
Speaker 1: there are lots of alternative ways that you can get

689
00:40:17,410 --> 00:40:21,330
Speaker 1: genetic information you need. Direct to consumer options like I

690
00:40:21,490 --> 00:40:24,610
Speaker 1: did are quick and easy, but I would always recommend

691
00:40:24,650 --> 00:40:27,450
Speaker 1: connecting with a genetic counselor to help interpret your results.

692
00:40:28,250 --> 00:40:31,490
Speaker 1: If you are positive for genetic mutation, there are a

693
00:40:31,650 --> 00:40:34,970
Speaker 1: multitude of preventative measures that you can take, from prophylactic

694
00:40:35,010 --> 00:40:40,290
Speaker 1: surgeries to risk reducing drugs like tomoxifen or reluxaphene. Ultimately,

695
00:40:41,050 --> 00:40:43,890
Speaker 1: you are responsible for your own health. You have to

696
00:40:43,970 --> 00:40:47,810
Speaker 1: advocate for yourself, but you don't have to do it alone.

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00:40:48,490 --> 00:40:50,890
Speaker 1: There are amazing places like the beast Or Center that

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00:40:50,930 --> 00:40:55,970
Speaker 1: can help you navigate this, Organizations that have testing, genetic counseling,

699
00:40:56,450 --> 00:41:01,410
Speaker 1: treatment options, and positive communities all in one place. Taking

700
00:41:01,490 --> 00:41:03,970
Speaker 1: that first step could save your life or the life

701
00:41:04,010 --> 00:41:12,930
Speaker 1: of someone you love. Coming up on the next episode

702
00:41:12,970 --> 00:41:16,730
Speaker 1: of Decoding Women's Health, I speak with a world renowned

703
00:41:16,930 --> 00:41:20,170
Speaker 1: expert in medical cannabis. You are not going to want

704
00:41:20,170 --> 00:41:20,810
Speaker 1: to miss this one.

705
00:41:21,250 --> 00:41:23,730
Speaker 4: The top three indications for medical cannabis use across the

706
00:41:23,810 --> 00:41:27,450
Speaker 4: country are chronic pain, mood or anxiety, and sleep disruption.

707
00:41:28,210 --> 00:41:31,050
Speaker 4: Not surprisingly, these are the three top conditions we hear

708
00:41:31,130 --> 00:41:35,170
Speaker 4: about in individuals who are either perimenopausal or postmenopausal.

709
00:41:35,890 --> 00:41:38,690
Speaker 1: Decoding Women's Health is a production of Pushkin Industries and

710
00:41:38,770 --> 00:41:42,730
Speaker 1: the Atria Health and Research Institute. This episode was produced

711
00:41:42,770 --> 00:41:46,330
Speaker 1: by Rebecca Lee Douglas. It was edited by Amy Gaines McQuaid,

712
00:41:47,370 --> 00:41:51,410
Speaker 1: mastering by Sarah Buguer. Our associate producer is Sonia Gerwit,

713
00:41:52,130 --> 00:41:57,050
Speaker 1: backchecking by doctor David Dodick. Our executive producer is Alexandra Garreton.

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00:41:57,650 --> 00:42:01,410
Speaker 1: Our theme song was composed by HANNS. Brown. Concept and

715
00:42:01,490 --> 00:42:05,810
Speaker 1: creative development by Shavn O'Connor. A special thanks to Alan

716
00:42:05,890 --> 00:42:13,170
Speaker 1: Tish David Saltzman, Sarah Nix, Eric Sandler, More Ratner, Amy Hagdorn,

717
00:42:13,730 --> 00:42:18,370
Speaker 1: Owen Miller, Jordan McMillan, and Greta Cohne. If you have

718
00:42:18,530 --> 00:42:22,050
Speaker 1: questions about women's health and midlife and want expert advice,

719
00:42:22,650 --> 00:42:25,770
Speaker 1: leave us a voicemail at four FI five two oh one,

720
00:42:26,170 --> 00:42:29,090
Speaker 1: three three eight five, or send us a message at

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00:42:29,130 --> 00:42:33,610
Speaker 1: Decoding Women's Health at pushkin dot FM. I'm doctor Elizabeth Pointer,

722
00:42:33,770 --> 00:42:35,770
Speaker 1: and thanks for listening. Until next time,