I had an 80% lifetime risk of breast cancer.

So there was a very, very good chance that I would get breast cancer at some stage.

And I guess in my head, when I started to have wobbles about the decision I'd made, I just thought, I never want to be told I've got cancer.

If I can do something to prevent that, and it's within my gift to do that, then I'm going to do that.

Welcome to the Breast Cancer Now podcast, providing support and information to anyone affected by breast cancer.

This podcast contains the personal stories, opinions and experiences of its speakers rather than those of Breast Cancer Now.

Today we're talking about cancer and genetics and specifically about the increased risk of the BRCA1 and BRCA2 gene mutations in the Jewish population.

We have two guests, Naomi, who found out she carries the BRCA2 gene fault after her mum sadly died from ovarian cancer. and Josh, who joins us from Jnetics, a charity dedicated to the prevention and diagnosis of Jewish genetic disorders.

We'll be talking about what genetic mutations are and how to get tested, as well as Naomi's experience of making difficult decisions to help reduce her risk of developing breast or ovarian cancer.

Naomi and Josh, welcome to the podcast.

Thank you very much for having me.

Thanks for having me too.

This is the Breast Cancer Now podcast.

So we're to get to now each other with a few warm up questions.

So Naomi, if money was no object and you could go anywhere in the world on holiday or even to live, where would you go right now? I would love to go to Canada.

It's on my list.

It might be a bit of a stretch with two young children, but it's definitely on my list.

I think it looks beautiful.

We've had family that have gone there and said it's amazing.

So I'd love to. be able to go and see Canada if I could.

Josh? I'd have to say a safari.

I've had the membership passes to London Zoo, because I also have two young children and we must have gone to the zoo once a month for the last year.

And I'd love to go and see those animals kind of out in the wild in their natural habitat.

And I think that would just be an amazing experience.

Yes, definitely sounds it.

And if you could have the most talented private chef cook a special meal just for you and your loved ones, what would you order right now, Naomi? Oh, this is a really tough question.

I love Italian food.

So maybe like the best pizza or the best pasta dish that is humanly possible.

That would be brilliant.

Josh? I would say it's got to be something like sushi or maybe even like with a tapenaki. grill where you have people doing all of the stuff in front of you.

So you get a show as well as a meal.

Okay.

Sushi and Safari.

Love it.

We talk about bucket lists and life goals and the distant future, but there's nothing like cancer to ground us in here and now.

So if there's one thing from your life goals list that you could do now or this year, what would you do? So I'm currently working towards a life goal, which is to become a qualified counselor.

And I've still got just over a year of that course left.

So if I could. could click my fingers, I would be qualified today and starting that journey.

I'd love to ride a bullet train in Japan.

I used to teach about them, talked about them a lot and they sound amazing.

What brings you joy right now? My children.

I've got two daughters.

It's like equal measures of joy and stress, but for the purpose of this question, it's more joy right now.

My son is... seven going on eight and he's now getting into a lot of things that I remember from when I was a child and seeing him experience them for the first time.

That's what brings me joy.

So welcome to the podcast, Naomi and Josh.

Naomi, we'll start with your story.

So your mum, as we said, sadly died from ovarian cancer about 12 years ago.

Could you tell us a bit about your mum and how she came to get that diagnosis? Yeah.

So, , She was first diagnosed with ovarian cancer in the beginning at the beginning of 2009.

She'd started to get some symptoms in 2008.

And I think it had been misdiagnosed as irritable bowel syndrome once or twice, which I think is quite common with ovarian cancer because it doesn't really present with any strong symptoms in the early stages.

And those symptoms can often get confused with other conditions.

But she kind of pushed for a bit more exploration.

At the beginning of 2009, she was diagnosed with ovarian cancer and had some immediate surgery.

But what they said at the time was we're not able to remove all of the cancer.

There was some, I think, grain of rice size tumors that were on her, the lining of her abdomen.

And so that was not something they could operate on.

And so we knew right from the beginning, actually, that that cancer was likely to come back or to grow.

She had several rounds of chemo and had a good couple of years break after the first sort of diagnosis.

And then it did just sort of keep coming back and the gap between uh sort of diagnosis and treatment got smaller and smaller until sort of the towards the end of 2013, the oncologist said, you know, there's not really anything more we can offer your mum.

And so she did go into a hospice towards the end of 2013. and obviously very sadly died in the middle of January 2014.

Before she died, she did get tested.

And that's when we discovered that she had the BRCA2 alteration.

And that came off the back of me reading a double page spread about Angelina Jolie and her mum who had a BRCA alteration, both of them, with her mum sadly dying of I think ovarian cancer.

And it wasn't until reading that, you know, that I'd even heard of it and knew what it was.

And I told my mom and my family about it.

She was tested, but it was too late really for it to be of any use, you know, to reduce my mom's risk.

It was, you know, it was too far gone.

But for me, it was then, you know, the foundation for me to get tested after my mom died.

And how old was your mom when she died? She was 64.

So she was diagnosed at 59 and she had five years, which at the time there was I think about a 30% survival rate beyond five years.

So we knew that it was one of the worst cancers to get.

Yeah.

And what was your mom like? Tell us a little bit about her.

How long have you got? She was awesome.

She was a little pocket rocket.

She was short, she was vibrant.

She was very feisty.

She had a temper.

But she was passionate.

If she cared, she cared very deeply.

If she loved, she loved passionately.

And family was everything to her.

She lost her mum at the age of 13 and her dad at the age of 27.

And so my dad often said that he put family back into her life. so having me and my brother, maybe not all the time, but I think overall was a uh joy for my mom.

And what she always wanted was to have a family around her.

And so I say that she put the shine on everything, big or small.

She made you feel special and made others feel special.

So she was incredible, spoke five languages, traveled widely.

Yeah, she was wonderful.

She sounds amazing.

And when you talked about her being passionate, you're obviously very, very passionate as well about this subject, which came about through really difficult circumstances.

So how did you go to be tested for the BRCA gene mutation yourself? So off the back of my mom, obviously having the the BRCA2 mutation confirmed.

I took that to my doctor and said, how do I go about getting tested? And because of that close connection with my mom, and also there were other instances of cancer in my slightly wider family, there was enough of a case put forward for me to get tested on the NHS.

And so that happened.

And in 2015, I found out that I did also carry the BRCA2 alteration.

And I can remember being in at the meeting with the genetic counselor.

And she smiled as she told me, not in a cruel, horrible way, but I think just with a nice bedside manner.

But I just couldn't marry up the smiling face and the news that she was giving me that I had this increased risk.

And I was young, you know, I was under 30, hadn't got my children at that point, was still obviously adjusting to not having my mom.

And so it was slightly surreal news at that time.

I didn't feel massively connected to it.

But then when I turned 30, then I started having annual MRI breast screening.

And you were able to sort of compartmentalize it, know, 12 months would pass and you're like, oh, it's time to be tested again.

But as I got older and as I have my children and came out the other side of that, I thought it's the time to do something.

That felt a bit like a ticking time bomb.

Yeah, absolutely.

Well, I want to ask you lots more questions, but we'll come to you, Josh, because you are the expert on genetics.

So you work for Jnetics, which is a charity dedicated to the prevention and diagnosis of genetic disorders in Jewish people.

Can you tell us what a genetic mutation or a genetic fault is? Of course.

A genetic mutation is effectively a change in our DNA and we have around 20,000 genes in each of our cells or almost all of our cells.

And those act like instructions for our body to operate.

And if we think about a context such as a recipe, it doesn't take much for it doesn't take much of a change in that recipe to really change what the outcome is going to be.

And really that's what's going on in our DNA.

Now we're getting mutations all of the time.

Most of those either our body can fix or they don't really create any problems.

But sometimes that mutation or that change in the DNA can cause a loss of function.

So that the protein that that gene codes for stops working.

And that's when a disease can occur, a genetic disease.

And actually that's exactly the case in BRCA that we're discussing today.

This gene alteration or a gene variant causes one of your copies to stop working properly.

Now we also all have two copies of every gene because we inherit one from our mother and one from our father.

And when you are a bracket carrier, it's generally the phrase people use, that means that one of your copies isn't functioning properly anymore, or it never was in the first place.

But you also still have one working copy.

So people can function absolutely normally with that one functioning copy.

But if the DNA code changes in that copy as well, that can happen just through normal day to day life. that's when the risk starts to develop.

Certainly in terms of uh breast cancer or ovarian cancer for people with a BRCA gene fault.

Okay.

You've just explained something that is very relevant to me, because I also have a gene mutation, which is called PALB2.

Some people call it BRCA3, but it's a similar uh breast cancer uh risk increasing cancer.

I have had, I have cancer and have had cancer and my mum who is obviously a lot older than me has never had cancer, but also has the same gene fault.

So that would mean that I, my second copy is broken and my mum's second copy is presumably still working.

Correct.

Okay.

Good.

That's really good to know.

Thank you.

Only in the cells that then, cause it doesn't have to happen everywhere.

It's just in one cell, which is why you can then still be treated for it as well.

Okay.

Okay.

And Do we know why the BRCA mutation is more common in people with Jewish heritage? Inherently, yes.

BRCA isn't unique for those of Jewish heritage as being a particularly prevalent kind of genetic disorder.

It's something that's quite a broad concept for those of Jewish heritage.

And really it goes back to the... society of the Jewish people for various reasons over the last couple of thousand years, Jewish community has generally remained fairly isolated from those around it, i.e. people tended to marry other Jewish people.

So what that means is that the gene pool remains fairly small and there's no mixture or admixture for the scientific term from genes coming in or going out of the community.

So you've got a relatively isolated group and that's happened consistently.

And then on top of that, we have two sciencey topics.

So please do stop me if I go too far down that rabbit hole.

But one is called the founder effect.

And that's where a large population.

So in this scenario with the Jewish community, it would have been in ancient Israel.

There would have been a large population of one particular ethnic group there.

And then there've been various moves out of that community.

So there was the Assyrians, we're talking 3000 years ago, the Babylonians two and a half thousand years ago.

And then the one most, uh most well known would have been the Roman expulsion around 2000 years ago.

What happened is small groups of people left from that large population and then set up all over the world.

In fact, they set up all over the Roman empire.

Now it only takes Let's say one person is carrying a BRCA gene variant in that massive population that no one's ever going to notice that.

But if a hundred people get up and move to Germany and that person with one gene mutate with the gene mutation happens to be in that group, suddenly that's a one in 100 carrier frequency and it's at much higher proportions.

And so because that then remains isolated from communities around it, it actually grows and it could by chance completely diminish or by chance, this is a concept called genetic drift, it increases.

On top of that, there's something called the genetic bottleneck effect, which largely has the same outcome, but the Jewish populations over the centuries have got a lot smaller very quickly.

We don't really need to go into why that's happened.

But what that again is that same idea that in the surviving group, that's suddenly much smaller, if there's a high proportion of people with that genetic variation, that then becomes a much higher proportion.

Now in this scenario, and with our other work on recessive diseases, that's been related to various genetic inheritance, various genetic disorders, sorry, but that can also be aesthetic, for instance, hair colour or thickness and how people look and stuff. it's...

It's something that's not unique to the Jewish population at all.

It happens in every group across the planet.

We just don't tend to see it, for example, with a general UK population because it's such a big population that we just don't see it.

But if a group of Brits moved, well, actually we did see it with America and the original pilgrims leaving from Plymouth, that would have been an example of a founder effect if one person on that ship had a genetic variant, then setting up a small population over in America, what we now call America, then you would see exactly the same thing.

And what's the increased risk for a Jewish person versus a non-Jewish person in terms of brakka gene? We know that there is a one in 40 risk for people of Ashkenazi Jewish descent.

Ashkenazi is, if you have Jewish heritage from of Eastern and Central Europe.

That accounts for the vast majority of people of Jewish ancestry in the UK.

And then if you are of Sephardi ancestry, then that's a carrier frequency of one in 140 people are carriers.

And that's if you are Sephardi, that would be Spain, North Africa, kind of the Mediterranean area.

That's compared to either one in 250 in the general UK population.

And some studies also put that at one in 400 in the general UK population.

So either way, those of Jewish ancestry are at least six times more likely to be carriers.

And that doesn't mean people that are Jewish or practicing Jewish, that just means anybody with at least one Jewish grandparent it's relevant for.

And is it just women or are men at risk as well? Both men and women are at risk.

There are four cancers that are known to be directly associated with BRCA.

Breast and ovarian are the ones with the biggest impact.

And pancreatic cancer is also there for both male and female.

And prostate cancer is also associated with BRCA2 mutations.

It's also an aspect of actually male breast cancer is also significantly increased for BRCA carriers as well. although still at a much lower risk factor than for females.

Yeah.

And of course, if a man has the gene mutation, there's also the chance of passing it on to their children.

Yes, for every carrier, there's a 50% chance for each child that you have inheriting it.

Yeah.

And we perhaps should have said as well that BRCA is written as B R C A and that actually stands for breast cancer.

And it's a gene that is in the body is meant to prevent, it's meant to protect you against breast cancer.

And when it becomes broken.

Yeah, it's an important part of the cell cycle.

It's actually a proofreading gene.

So every time our cells replicate, we use both of our BRCA genes and PALB2 is associated with this process as well.

It actually kind of sits on the DNA and tracks along it.

I like to think of it as almost like an old fashioned movie projector with the film going through through it.

And anything where it finds that the shape isn't quite right signifies that it's a There's a gene mutation.

There's a DNA mutation there.

And then it either fixes it or tells the cell to go into what's called apoptosis programmed cell death.

And that's way that it protects us.

So when it's not working, those spelling mistakes are allowed to get through.

So that's really the basis of what BRCA does, which is why it's such an important gene and why it leads to cancer.

And do we know why it breaks? Like what can cause a gene to break? many, many things can cause our DNA to break.

We hear lots of things like pollution or alcohol or cigarette smoke, for example, can cause our DNA to break.

Those would be kind of chemical mutagens.

Even the oxygen that we breathe can cause our DNA to break because it's actually highly reactive.

But we have systems to fix that.

So it could be something that we've taken into our body, a chemical that reacts directly with our DNA.

Or it could simply be a mistake when our cells are replicating, because we have to copy our entire DNA code.

We're talking billions of individual letters, for want of a better phrase, or nucleotides those bases.

That's a lot of bases to be copying constantly and mistakes happen and sometimes they creep through.

Thank you.

I've got so many more questions.

This is uh such a fascinating topic and so much to learn.

Naomi, I wanted to ask you, you obviously lost your mum to ovarian cancer, which must have been absolutely devastating.

How did it then feel to find out that you may also be at risk of developing ovarian or breast cancer? I think, as I said, it was a really surreal thing to get my head around at the time because I was at a totally different stage of my life at that point.

I just got married.

I didn't have any children.

It felt like that was a future Naomi problem, which might have been a coping strategy probably at the time.

But I can remember the plastic surgery consultant that I saw at the time when I was looking at what the options would be saying, have your family first, because it would be too much of an ordeal sort of on your body to maybe have children after having any risk-reducing surgery.

And so again, that sort of pushed it further on into the distance.

I, you know, having that annual screening gave me a little bit of control or peace of mind, but it was something that I was able to push to the back of my mind.

You know, I, can remember my dad saying to me at the time, you know, I'm sorry that my genes weren't strong enough. you know, I didn't want him to feel like he had any responsibility of me, you know, having the, the alteration, but.

I think I was able to reconcile it and just think this is what I've got, at least I know, in good time.

That's not what my mum had.

She had no time to do anything with that information.

And I think the discovery around BRCA1 and BRCA2 and the link to cancer came in the 90s and it was just after my mum had a single mastectomy because they found some precancerous cells in one breast.

And so she had the surgery to have a single mastectomy.

And at that time, I think it might've been even just a year later that they then discovered there was this genetic link between people of Jewish heritage and certain types of cancer.

And so I do sometimes think about the timing of that. if she had, you know, if that had happened about a year later, she might've known right back then in the early nineties that she had an increased risk.

I, you know, try and see it as a positive thing.

You know, I have this knowledge.

I know what my risk is.

I know my options are and I've obviously made some decisions around reducing that risk.

So I come at it from a far more empowered position.

I'd rather know what's around the corner than it comes as a surprise.

And so I've, you know, over the years worked out that this is actually bit of a superpower to know and it gives me the choice.

Yeah.

So we know that going through risk reducing surgery, like having a mastectomy, which was removing breast or both the breasts and an euphorectomy which is removing the ovaries.

We know that those things can help reduce the risk of developing cancer if you have a BRCA or PALB2 gene mutation.

What was your decision making process around having surgeries and how did you decide to get to that eventually? I guess I looked at what my options were.

It was either continuing with the annual MRI screening, which didn't stop me from getting cancer. , I could have had an MRI scan on a Tuesday and the cancer could have started to develop on the Wednesday.

I had no, it was not preventative in any way.

And so it really gave me very limited peace of mind.

And so, especially as I was getting older, I'd had my children. thought, I feel like a ticking time bomb.

This is not giving me the peace of mind.

I have this knowledge and I know I can do more to reduce and manage my risk.

And so for me, it was quite a, it was a bit of a no brainer to put myself forward for the surgery.

My husband was naturally a bit reluctant to go gung-ho with it because it was going to be a massive ordeal.

But for me, I had quite a lot of clarity.

And so the decision to have the surgery was quite an easy one to make.

I then was faced with the fact that I was being put on a two-year waiting list.

And so having made the decision and thinking, this is great, I'm doing something about it, I then still had... that ticking time bomb and waiting game for two years until I then got a phone call and said, right, in two weeks time, you're having this operation.

So it was a very short window to sort of get my head around it and, you know, make practical arrangements in terms of my children and work and stuff. you don't say no to it because you might go straight back to the bottom of the waiting list.

So yeah, it was, I had to say yes to it. you had the double mastectomy.

Yeah.

And you haven't had the ovary surgery yet? No.

So again, soon as I sort of made a good recovery from the double mastectomy and reconstruction, I was like, right, let's talk about ovaries now.

And so I went to m the gynae oncologist that I was sort of assigned to and he said, you know, yes, we could put you forward for a full oophorectomy now. it would bring on the surgical menopause overnight.

And I've just turned, not just turned, I'm 40.

And so that would obviously be very premature, you know, on average.

And where it is overnight, would, you know, crash menopause is quite a difficult thing to get your head around and deal with and adjust to.

So he said there's actually a new study called the Protector Study, which is a trial, which is a two-stage risk-reducing process where In the first instance, they just remove your fallopian tubes because there's a lot of research that says that ovarian cancer can start in the fallopian tubes.

And so there's a theory that if you remove those, that does reduce your risk to some extent.

And then when you're at the more appropriate age of menopause, so around 50, they would then remove the ovaries as well.

And you would obviously still go into a crash menopause, but it's at a time when that would sort of be more in keeping with your age.

So I'm just waiting to see whether they are going to be recruiting more participants for that study.

And hopefully that's me edging slightly further forward on that journey of reducing that ovarian cancer risk.

A lot of the people that we have on this sofa on the podcast are here because they've had breast cancer or they have breast cancer and they're having a... having surgery to remove their breasts because cancer has been found in those breasts.

What's the psychology of it when you haven't developed cancer and you're still having this huge part of your body removed? how does that feel? And then also knowing that you might have to have your ovaries removed even though they don't have any cancer in them in future.

How does that all make you feel? It was definitely obviously something that I had to weigh up very, very carefully.

You know, I'm taking, I'm doing something incredibly traumatic to my body, even though I don't know if I'd ever actually develop cancer.

So I have had an 80% lifetime risk of breast cancer.

So there was a very, very good chance that I would get breast cancer at some stage.

And I guess in my head, when I started to have wobbles about the decision I'd made, I just thought I never want to be told I've got cancer.

If I can, if I can do something to prevent that, and it's within my gift to do that, then I'm going to, I'm going to do that.

I was thinking about my children, my husband, my friends, my family, myself, obviously, thinking about my mum's legacy.

And it was actually the best decision I've ever made because I went from having a lifetime risk of 80 to having a less than 5% chance of breast cancer, which is less than the average person walking down the street.

And so for me, that's what I kept coming back to, that peace of mind and thinking about my children and giving them a different story to the one I had and yeah, giving myself a different story to the one that my mom had.

Josh, is this something for people in Naomi's positions, they found out that they carry the gene mutation.

Is there support that you offer to help make these decisions around surgery? Yes, when someone's identified as a bracket carrier, they will immediately be or automatically, I should say, be referred to their regional genetic services.

And that would put them onto a high risk screening program.

Hundreds of people have already been referred to for breast screening services, for example.

So that's one part.

And that also includes any ongoing conversations around the risk-reducing surgery.

The idea really is to either take action to prevent cancer or to undergo the screening so that it's caught as early as possible.

Because then, as we know with cancer, the earlier it's caught, the better the prognosis.

There are kind two levels of support really beyond just the medicine that's on offer.

One of the things that the Jewish Bracca program from the NHS has done, which is truly remarkable, is to have a dedicated genetic counseling provision. , you can phone the hotline is open kind of Monday to Friday, nine till five.

There's no limit on how many times you can call it. , when in the process, even if it's just simply deciding whether you want to take the test or not, they will be there.

It's, they are absolutely lovely.

They're wonderful people. , so that's, that's an amazing resource that people can use.

And then actually a partner charity of ours called High Cancer Care is the cancer support charity for the Jewish community.

They have BRCA support groups as well. it's actually some of the comments that you made to Naomi really resonate there that, , if you've been identified as being a BRCA carrier, but don't haven't been diagnosed with cancer, going to a cancer group doesn't quite feel right.

Generally you're, you're in a different position, you're going through something different to the other people in the group.

So they actually do have BRCA support groups.

And I know that other charities like Macmillan, example, Breast Cancer Now also have BRCA specific groups as well.

Plus there are, there are communities, whole communities on social media that are talking about BRCA that are uh run by people that are BRCA positive.

Some took preventative action before developing cancer.

Some found out after they were diagnosed groups like BRCA chat, the BRCA project.

They're, they're amazing people and anybody is welcome to go and kind of contact them and go in as much as you want or just kind of dabble in the, in the shallow, so to speak.

But there's, there's a lot of people out there that want to help and share their experiences and help people through theirs.

Yeah.

I should go back a step and ask, so if you are Jewish and listening to this podcast, how do you, how can you find out whether you can, whether you can get the testing for BRCA? So fundamentally, this is a self-referral scheme.

So you don't have to go to a GP for it or anything.

You can just go online.

If you visit Jewish BRCA, which is brca.org.

You can register your interest there.

It's completely free.

The program itself is actually close to new registrations at the moment, but because of the resounding success of it, nearly 44,000 people registered in the first three years of the program, which was initially considered to be a pilot program, but it's been so successful that the NHS fully appreciate that they can't drop it.

There's clearly a need for it.

You can go onto this website and you register your interest, which for the time being is just popping your email into it.

And then the team will email you when it does reopen, which is due to be in 2026.

We don't have an exact date to share yet, but it will be this year.

And you need very little information to do the test really.

So any inkling that you might have Jewish ancestry, I would suggest calling the hotline, which is for the genetic counselors.

You can find the number on the website and just talk it through with them and they'll help you decide if it's, if it's right for you.

Yes.

We'll put that link in the show notes.

So, and it's, am I right in thinking that it's anyone with at least one Jewish grandparent? Anyone with at least one Jewish grandparent over 18 and living in England, because it's offered by NHS England.

Of course.

We don't tend to talk to people about it until they're about 25.

Okay.

Because between 18 and 25, there isn't really any action that you can take.

So the enhanced risk screening programs kind of kick in at 25 if you're in the very high risk or at 30 if you're in high risk.

And we don't think it's fair to talk to an 18 year old who then discovers that they're carrying a gene variant in their BRCA gene and then the language that you used feel like a ticking time bomb.

So we kind of advocate screening at the age that you can action that information.

Perfect.

It probably sounds like a really basic question, but the test itself to find out whether you carry the BRCA gene mutation, is it just a simple blood test? The NHS one isn't even blood test.

It's a saliva test. was a blood test.

Mine was as well.

I think that's still...

The main NHS route is a blood test, but for this program, the technology that they use, you can, because we have cheek cells just kind of floating free in our saliva, you just have to spit 25 millilitres into a tube and they can extract enough cells from that to process your DNA, which is actually a really good part of the access of the program.

So as I said earlier, it's self-referral.

You'll be posted a kit and you can complete it at home.

Right.

So, like it couldn't be easier.

Yeah.

When I did the BRCA test, it took me two minutes to fill up the tube.

My wife will kill me for saying this, but it took her 45 minutes to fill it up.

Not sure what that says about which one of us.

It's probably more about me than it is about her.

I'm just the gobby one, I suppose.

So it's really, really simple.

Even if you're scared of needles, you don't have to worry about it.

You don't have to take time out of work to go to the clinic to give a blood sample.

You just...

You do it at home. like doing an ancestry em or 23andMe test, you know, one of those ones that they post out the kit and send it back.

You would see as the participant, very, similar.

Brilliant.

And aside from the people who just don't know about it, or they're just too busy to go for the testing, there are also people who don't want to go for the testing because they're concerned about the potential consequences, which, you know, is a totally... relatable, understandable way to feel as well.

Naomi, what would you say to people in the Jewish community, perhaps people you know in terms of what they should know about their brachiorisks or cancer risk? I guess caveat anything is that it is such a personal decision.

You know, you've just touched on the fact that some people want that knowledge, some people don't.

How people live their lives and, you know, find these things out is totally up to them.

But My personal perspective on it is that first of all, knowledge is power.

I have the early warning and the lead time that my mum never had.

And that means for me that I'm going to be around for my children to annoy them for a really long time.

Everyone moans about getting old, but for me getting old is going to be a real privilege.

And so I want to be able to grow old. so yes, it's come with some very difficult and traumatic experiences having that knowledge and the decisions I've made and what I've chosen to do to my body.

But I'd rather know than not know because there are so many things in life that you can't plan for, predict for horrible things that happen every day.

But so if you can have a slight modicum of control or foresight into what your future might hold, grab it with both hands because life is for living and we all deserve to have a long life.

And my mum didn't have that.

I haven't got my mom, my children never met my mom.

And I, like I said, I want to rewrite that story.

And so if there are people out there, they're wondering what to do.

Just maybe just think about that perspective that, , if you know what you have, then you can do something about it.

Absolutely.

Yeah.

So you've had two daughters, have two daughters.

They're both very young now. , but obviously we know that if you carry the Brecker gene mutation yourself, there is a 50% chance that. your child could inherit it.

Have you had conversation, have you had any support around what to do in future in terms of getting your daughters tested or talking to them about it? I've had some very loose conversations and it's interesting what you said about the earliest that any surgery would be offered is 25.

Because I was wondering at what point I would look to get my children tested, they're four and 10.

So It's a long way into the future and I'm hoping by that point it won't be such a life-changing diagnosis or the choices will be much broader and cancer won't be such a big scary thing, hopefully.

But I would want them to be adults and be able to understand what it means and to not necessarily be totally frightened by it.

And I would hope that the fact that they've seen me go through it, my youngest probably won't remember, but my eldest, you know, scarred for life by the fact that mummy was in hospital for a week.

But she understands really why I did it.

And we put it in simple terms that mummy doesn't want to get ill like grandma did.

We don't lie, we tell the truth, but in a hopefully digestible way.

But yeah, I want them to be of an age where they can understand really what it means and know what the options are.

But I will be right by their side, holding their hands and saying, can do it.

Whatever it is, you know, we'll be there to support you.

But who knows what that landscape will look like in 15 years time or whenever it is that we're sort of getting them tested.

But yeah, that time will come and I want them to make sure that they're prepared for it. absolutely.

And of course, there's every chance that they wouldn't, that you haven't passed on the mutation to them as well.

You also mentioned the level of guilt.

I know that's something that I've had from my mum as well saying, sort of feeling on some level that it was her fault that she passed on this faulty gene, which of course, literally none of us can ever do anything about that.

But is there a level, how do you deal with that? And is there any support around possible feelings of guilt? I definitely have had some questions leveled at me about my choice to have children. guess ultimately I wanted to become a mum. uh It's the best job ever, best decision.

So that was a driver for me.

Maybe some might see that as slightly selfish.

But I was comforted by the fact that by the time they get to my age now, things will be totally different, I hope.

And I will be there as a role model.

But so it never actually occurred to me whether I should have children or not.

It was just, yeah, I want to be a mom.

I'm going to have kids.

And yeah, two fantastic girls as a result.

And most people don't have to think about their genes when they go to get pregnant or, you know, to conceive.

Most people don't think about what potential things might I pass on to my children.

So, yeah, it's just a decision you make if you want kids or you don't want kids.

Yeah. uh Josh, is there any genetic testing or preventative measures that can be taken now to ensure that a gene mutation is not passed on to a child? Yes, there is actually.

So there's a form of IVF called PQT, pre-implantation genetic testing, and actually BRCA is approved for use through it.

There's an authority called the HFEA. the Human Fertilization and Embryology Authority.

So if you are aware of a BRCA mutation before choosing to have children, you can go through this IVF and actually the NHS will fund, I think at least one uh round on it.

IVF isn't a pleasant experience to go through, it's not a very uh comfortable. processed by any stretch, but that is available as an option.

That's amazing.

Amazing how technology changes.

And what about, is there any technology that can fix or is getting closer to fixing broken genes? We're getting there.

There's lots of research.

This is a really, really exciting area of scientific research at the moment.

So you might see in the news quite a lot of stories about something called gene therapy. whereby we can actually change somebody's DNA.

So there's a recent one for a condition called SMA, spinal muscular atrophy, whereby a new gene is put into the body through a virus, through a viral vector that's then embedded into the DNA, and that then provides the working version.

There's also a process called CRISPR. which actually allows us to edit somebody's DNA and then put in the real, put in the functional version of the gene.

So I don't know if that's being researched in terms of BRCA at the moment, but there, there is really exciting progress being made.

There's stuff that's been approved for use by the regulatory authorities.

And actually I know that the way that they're developing this, certainly in our other work for rare diseases, is they're looking, the scientists are looking at being able to have kind of generic versions that can then be edited on a case by case basis for people's individual mutations.

If that kind of generic version can be, uh get to the point where it can be approved as safe to use, then actually it really is something that could be used very, very widely.

From both of your experience, are people in the Jewish community comfortable with talking about these genetic mutations? are there any cultural barriers where it's something that you don't talk about? One area that we have seen this not cut through as effectively is the ultra-orthodox communities.

Like every minority group, there are differences within the Jewish community.

The ultra-orthodox community is an incredibly well-educated, well-considered group for various cultural reasons, kind of that pre-testing doesn't fit within that community.

They are very, very keen on genetic testing after diagnosis because it can also help to direct therapeutic pathways and decisions.

But there are cultural barriers in kind of certain sub-sects of the community.

Yeah, I totally get that as well.

Actually, just whilst we're on that and talking about kind of taboos and talking about things, one thing that actually I have to say coming, kind of coming into this world of talking about cancer is that the work that charities such as Breast Cancer now have done with removing that taboo about talking about cancer separate to the Jewish thing into the gene mutation is just phenomenal.

And actually looking at it, from the male perspective, women are so much further along that process than men are.

And actually it's amazing that work and it's both sides of it.

The fact that people are happy to talk about cancer and the risks of cancer.

Without that, people wouldn't be talking about getting BRCA testing.

So I do have to say that that work has been phenomenal from groups such as Breast Cancer Now.

Thank you.

That's great to hear.

And that's why I talk about it as well, think, because I want people to, I want to be able to share my experiences of having breast cancer and living with breast cancer because I know how isolating it can feel.

Have you had any experience on that side as well, Naomi? No, I guess I'm not a practicing Jew, so I possibly don't have those sort of networks that I'm part of.

So I've really just been trying to push my message out to as wider. group as possible, you know, just with the idea of speak to the women in your life, you know, think about the women in your life.

If there's a family history of cancer, you know, just, just think about whether there might be an inherited risk there.

So yeah, I'm not, you know, excluding anyone with my sort of banging the drum.

So yeah, I could torture myself and have many times about, you know, what if we'd have found out, even if it had been 10 years earlier, not even back in the nineties, you know, my mum would still be here and life would be very different.

So yeah, it's very hard to reconcile that the cards that we've been dealt, but that is what makes me even more determined to, know, in terms of a legacy to her to change it for me, but hopefully change it for a lot of other people, including my children, but you know, people beyond my family who I don't even know, you know, if they can. get a bit of early awareness and connect those dots and still have all the time to make some really good choices.

That's why I do it, you know, for my mum, but also for every other woman or person that has a woman in their life and men obviously that might have this inherited risk.

That's where you come on this podcast, you mean, as in that's where you talk about it because you really want to help other people to know that they are at risk potentially.

Yeah, absolutely. doesn't have to just go that way.

You know, you can have some control over it.

It is worth also keeping in mind that the technology that's available now is just amazing.

And the speed that it's developed is phenomenal.

It's incredible.

It's so it's come so far and makes it a possibility now.

And that even five years ago, didn't have. the same in cancer, you know, there are drugs now that we didn't have. when probably when your mum was being treated and there's so much happening all the time.

Naomi, what would you say to anyone who might be worried about getting tested? think it's natural to be worried because, you know, ignorance is bliss, right? If you don't know something bad might happen, then you can tell yourself it never will.

So I think if you want to bury your head in the sand or if you absolutely don't want to find out, then that's totally up to you and that's totally fine.

It will be natural to feel apprehensive about what the results are going to be.

But I just go back to my earlier point that once you know you have options, as long as you found out in quite good time and you have all the information to hand, you can manage that risk or manage the outcome of that, especially with the support, the psychological support around. decisions you make.

You know, I had to have a full psychological evaluation before I was recommended for the surgery.

So they definitely make sure you're in a good place mentally before you're, you know, making that kind of decision. for me, you know, it's natural to feel nervous.

I was nervous, but it's the best decision I ever made to have that knowledge.

And is there anything you know now that you wish you knew before you found out that you had the gene fault? No, if I'd have done any single thing differently, then I perhaps wouldn't have ended up with the two children that I've got and be sat on this sofa talking to you about it. no, think I did what I felt was right for me.

Fantastic.

Thank you.

And Josh, for our listeners who have Jewish ancestry or know someone with Jewish heritage as well, Where can they go for more information or to get tested? So the first place is jewishbracca.org.

Everything that we've discussed and more is on there for you to read.

But if you'd rather talk to somebody, I would highly recommend calling the Jewish Bracca hotline.

The number is 0203 437 6001.

Just give them a call.

Speak to somebody. reach out to one of these other groups that I've mentioned.

It's very easy to access and people will help you make the decision for yourself.

Thank you.

And to finish with the question we ask everyone on this podcast, for each of you, what's the one thing you'd like people to take away from this podcast, from this episode? I guess, you know, Speak to the women in your life and men, should not forget the men, but I am a woman so I'm going to focus on that. know, speak to the women in your life, whether that's sisters, mothers, aunties, cousins, co-workers, neighbours, friends.

You know, if you think that there might be an increased risk of cancer or there's a family history of cancer, it's worth having the conversation.

It's better to get tested and find out you don't carry an alteration than to not know.

So just talk about it.

That's the biggest thing.

But also if you're in the, if you have Jewish heritage, then you don't have to have the family history anyway.

It's just, you have to have a grandparent and you can get tested.

Yeah.

So just, just talk to, to everyone in your life that you think might, might benefit from this.

Spread the word.

I think my takeaway would be make sure you think about it.

Obviously I would love everybody to choose to be tested.

But I wouldn't want anybody to not be tested because they haven't thought about it or not aware of it.

So please do let people know.

Please think about testing.

We are incredibly lucky to have this technology, this program, that awareness.

Please do genuinely consider it.

And if it's really not right for you, that's fine.

It's everybody's individual decision.

But what I would say then is you can still take conscientious action. can still self check.

You can still be conscious of any changes in your body that really don't feel quite right and go to the GP.

Whatever you're doing, be aware and really think about it.

And if you do feel that it's right for you, please do access the testing.

We are incredibly lucky to live in an age where this is available.

Take advantage of it.

Brilliant.

Thank you so much.

This has been so informative.

So thank you, Naomi and Josh for coming on the Breast Cancer Now podcast. you for having me.

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