Demystifying Genetics with Sarah Powell from Inherited Cancers Australia

Sarah Powell, CEO of Inherited Cancers Australia, shares her journey from triple-negative breast cancer diagnosis at age 29 to discovering her BRCA1 mutation and becoming a powerful advocate for others facing inherited cancer risk.

• Diagnosed with breast cancer at 29 with no family history, Sarah later discovered she carries a BRCA1 mutation connected to her Ashkenazi Jewish ancestry
• After treatment, Sarah became involved with Pink Hope (now Inherited Cancers Australia) to find peer support from others who understood the unique challenges of genetic risk
• The "Angelina Jolie effect" dramatically increased awareness about BRCA mutations and genetic testing, helping many families understand their options
• Inherited Cancers Australia recently rebranded from Pink Hope to better include men in the conversation about genetic risk and reflect the wider range of cancers involved
• The recent recommendation to offer genetic testing to all women with breast cancer will identify many more families at risk, but raises concerns about healthcare system capacity
• Long waitlists for preventative surgeries remain a major challenge, with some women developing cancer while waiting for risk-reducing procedures

If you're concerned about your family history of cancer, visit InheritedCancers.org.au for support, information, and connection to others facing similar challenges.

This is a special episode for the 3rd Podcasthon.

Chapters

• 0:00 Introduction to Sarah and Inherited Cancers Australia
• 10:48 Sarah's Personal Cancer Journey
• 23:44 Discovering the BRCA1 Mutation
• 33:42 The "Angelina Jolie Effect" on Genetic Testing
• 42:46 The Role of Charities in Patient Support
• 49:42 Genetic Testing for All Breast Cancer Patients
• 55:14 Pink Hope to Inherited Cancers: The Rebrand

Transcript

Matt: 0:01

Hi, my name is Matt Burgess and I am the host of Demystifying Genetics. This is a special episode of Demystifying Genetics, as we are participating in this third edition of Podcast Thon. For one week, more than a thousand podcasts will highlight a charity of their choice, and today I am excited to be speaking with Sarah Powell, the CEO of Inherited Cancers, australia. Hi, sarah, and welcome to Demystifying Genetics.

Sarah: 0:35

Hi, Matt, thank you for having me.

Matt: 0:37

Now, this is a really exciting week in podcasting. There's a thing called Podcastthon, and podcasts from all over the world are highlighting various charities, and the charity that I thought that I would like to sort of become involved with is a charity that you work at. So, yeah, inherited Cancers. How, yeah, tell me about Inherited Cancers. I don't even know where to start. How did you get involved? What do you do? What is it?

Sarah: 1:09

Wow. So that's a big story. So Inherited Cancers Australia. We rebranded from Pink Hope in August this year and I'll come to that a little bit later. But how I got involved was due to my own personal history. So when I was 29 years old I was diagnosed with triple negative breast cancer, and this was in 2006. So quite a shock. No family history Didn't get genetic testing because at that time everyone asked if I had a family history of breast or ovarian cancer, which I don't, so genetic testing was never offered. Got through treatment, fell pregnant a few weeks after finishing my treatment.

Matt: 1:51

Oh, wow.

Sarah: 1:52

Yeah, a bit of a whirlwind, particularly as I was told that chemo would most likely, you know, affect my fertility. We even froze embryos before I started chemo just, you know, as a sort of insurance plan, and fell pregnant naturally, had my baby and it actually was quite a nice way to end a pretty crappy year. Let's be honest, you know and it was, you know, my focus was on my baby and I had a daughter and when she was about a year, 18 months old, it didn't sit right that I was 29 having breast cancer. You know, stats would say probably less than 5% of people you know would get breast cancer under 30. So I did a little bit of research and I started to read about the BRCA, or the BRCA mutations, and how they're much more prevalent in Ashkenazi Jewish people and Ashkenazi just means Jewish people from Eastern Europe and my dad's family are Jewish from Lithuania and you know the bells start ringing and you're like, oh, hold on a minute. So I actually and back then you could self-refer, it's quite different now I just called up Peter Mac in Melbourne and said, look, this has happened to me. You know, I had triple negative breast cancer at 29 and I have Ashkenazi, jewish ancestry, I think. For them they were probably like yep. So they said you know, they sent me the forms you do, your pedigree or your family history of you know what cancers.

Sarah: 3:22

And as it turns out, when I started digging around my grandma so that my dad's family are very small, my dad, dad's sister, died very young from MS and his brother married quite late in life, so never had his own children, so I don't have cousins and my uncle is the only living relative. My dad passed away when I was younger so I asked him how. I said how did you know grandma die? And I think you know back in that day it was kind of women's problems, you know, he didn't. No one could really tell me. Um, my mum was still alive at that point and she said, oh, I don't know, I think it could have been uterine cancer, could have been ovarian, and I got a death certificate and of course your death certificate really only shows what you die of, not you know, and that wasn't actually her cause of death. So I really didn't have anything to go on. But then someone remembered that perhaps her sister had breast cancer.

Sarah: 4:12

So I gave all this to Peter Mac and they invited me in very quickly. Back then the clinics weren't perhaps as overwhelmed or you know as they are now, so went straight in. Uh, they counseled me, we did the test and they said, look, it could take four months for a result to come back. And they called me after about two months and said you know, we've got your result, you need to come in. And I think I knew at that point you know being called in early um and I suspect, being Jewish as well, you know they. There are certain types of BRCA mutations that they call them the Jewish founder mutations.

Sarah: 4:46

And that's the one I have, so it's probably a little bit easier to identify. But, yeah, sure enough. So I had a BRCA1 mutation and for me it just changed everything. You know, I feel like I breezed through my breast cancer diagnosis, and having breast cancer is not or any cancer is not easy.

Matt: 5:06

Can I ask you about the actual diagnosis? Like you know, as a 29 year old, I'm guessing that you're thinking breast cancer is the you know the last thing on your mind did you find a lump, and what was the conversation like with the doctor and how long did it take to actually get that diagnosis confirmed?

Sarah: 5:27

Yeah, look, when I think back, I was pretty lucky because you know, I do hear of women that perhaps get sort of bobbed off, particularly when they're younger.

Sarah: 5:35

I was in Thailand on holiday and I feel really fortunate that my tumour was almost like right right under my, so far around my breast. It was almost under my armpit. So you know, when you're washing under your arms, I mean, oh, that's a funny little lump, um, and I was actually studying biotechnology at uni at that time and I, you know, I decided to go back as a mature age student and study, and we've been doing a lot about cancer and you know what, you know how they um, you know it's quite hard and you know it's got irregular, uh, feels irregular, and so I sort of had all that in my mind. But then also what I thought I'm 29, like you know, this is silly, so, but it's the back of my mind. But when I got home I went to see my GP and she, you know, do you have a family history? You're very young, unlikely to be anything, but I'm going to send you for an ultrasound. So I went for the ultrasound and the guy doing it said to me have you been sick recently and I said no, and he said you've got a lot of enlarged lymph nodes in your breast as well as this one. He said you need to go back to your doctor. So I went back to the GP and she was like, okay, I'll refer you to a breast clinic. So I went there and they biopsied it that day and the radiographer and she it's funny and she told me afterwards she said I knew it was cancer. She said I see enough. But she said I obviously couldn't say that until we had the pathology. But she said to me I want to book appointment for tomorrow. So I came back the next day and and at this point my um, my husband at the time, he was really like this is nothing, so he didn't come to a single appointment with me, even to the one where they told me. But yeah, I turned up and they said look, we're all sorry, it's breast cancer. It's an aggressive, you know grade three, triple negative breast cancer. But it's very small. It was 1.2 centimeters. So they said this is really positive. We found it very, very early. So they said this is really positive. We found it very, very early. So at that point, because I didn't know about my mutation. I just had a lumpectomy and we got clear margins. So that was all great. But I did start.

Sarah: 7:34

I went on about, I'm trying to think, three or four months of chemo, different types of chemo, and because of my age they said look, we can do what they call dose stents, do it every two weeks. Um, because you're a bit younger you can sort of manage that and you know I managed it relatively well. Fair bit of joint pain. I ended up with neuropathy in my hands and arms, a bit um, a little bit of nausea, but you know it was managed reasonably well.

Sarah: 8:00

Um, and then radiotherapy for a I don't know, I think it was like 35 days. You have to go every day. I even forgot to go one day. It's quite funny, I remember. Just it's like you go every day. But then one day they rang me and they went uh, you're not here and I was like what and um, but you know, and actually it's funny because back then triple negative had no adjuvant, there was nothing you could take afterwards, and I remember going to my last radiotherapy appointment and then just sitting in the car and crying because I was like, well, who's looking after me now? Because once, when you've got, when you're in treatment, you sort of you've got all these people around you and it felt really overwhelming because it was literally like good luck.

Sarah: 8:38

Um, my oncologist said to me please do not get pregnant in the next two years. You know triple negative often because you know within next two years, you know triple negative often because you know within those two years. He said, I don't want to be treating you pregnant or, you know, with a young child. So um, didn't listen to that advice and got pregnant and and like, honestly, wasn't planned, but you know it is what it is and I'm I'm very lucky that it all turned out okay. Um, I joked. I went into his office and I had to tell him and I felt like a teenager telling his dad I'm pregnant, like, oh, I'm pregnant, and he just said, well, it is what you know, it is what it is, and so so, yeah, so off I went and so, yeah, I feel really fortunate, everyone took it very seriously, like, well, they, they, you know there was always that I'm sure it's nothing, but we'll keep, you know, doing the tests. So I was lucky in that way.

Matt: 9:24

Okay and you said, sort of in the process of genetic counselling you were gathering information about your family and you know your family's small and some people have passed away. I can detect a slight English accent, but you were living in Australia. Were you family like when you said you were talking to your uncle? Was he overseas and how did that sort of complicate things being sort of really spread out?

Sarah: 9:55

Yeah, look, I'm really fortunate. My uncle is. You know he uses email and so, and we've always stayed in touch in that way. I think for him he sees myself and my brother as sort of. You know he uses email and so, and we've always stayed in touch in that way.

Sarah: 10:05

I think for him he sees myself and my brother as sort of you know he's only living sort of you know, biological family, I suppose, because, like I said, he has children, but they, you know, by marriage. So he was, so we always stayed in contact. So he, you know, when I said you know, know, I'm investigating this, he, he gave me as much information as he could. Um, he's never had the test actually, but it just it didn't make sense for him to have it. He doesn't have children. Um, he's well in his 80s now, actually late 80s, and he's doing great. So he's sort of I mean, you know there is an increase for risk of prostate cancer but yeah, I think at his age he's sort of happy not to do the test yeah, and did you so?

Matt: 10:48

the Ashkenazi, jewish side of your family's, on your dad's side? Do you have a history of, uh, or are you Jewish on your mum's side as well, and do you identify as like? Are you Jewish or?

Sarah: 11:02

yeah, that's an interesting story too. So to be Jewish, your mum has to be well, they have to convert right. And my dad was, uh, not orthodox in any way. His, his parents were, so, um, he committed the sort of ultimate Jewish crime by marrying a non-Jewish woman and he, he actually got sort of ostracized really from his parents. His dad died before I was born, um, but, um, my grandma was actually the most incredible grandma, so for me, my, my siblings, like she was amazing, uh, but she, her, and my mum just never got on because, you know, it's, it's, it was very important to her that my dad married a Jewish woman and he didn't, which meant we weren't.

Matt: 11:42

But you know, like I said, my dad wasn't religious in any way, um, so, yeah, we're not Jewish, um, I guess, yeah uh, yeah, it's just interesting because, yeah, like in genetics, we obviously, uh like when we're thinking of genetic testing, certain mutations are more common in people from different backgrounds. And quite often we sort of ask you know what's your ethnic background or where do your family come from? But yeah, with the Jewishness, yeah, you inherit or you become Jewish from your mum and from a genetics point of view, we don't really we're not really asking are you Jewish? But yeah, it's just a interesting sort of cultural thing.

Sarah: 12:26

It is, and you know, as you would know. You know, if we say general population, about one in 400 people would have a genetic mutation causing cancer. In Ashkenazi Jewish people it's about one in 40. It's significantly higher. I know that the NHS in the UK now are allowing anyone with and it doesn't have to be like the Eastern Europe anyone with Jewish ancestry I think back to your grandfather can now get access genetic testing, which is fantastic.

Matt: 12:53

And was it after you received your genetic diagnosis that you became involved with Pink Hope?

Sarah: 12:59

Yeah. So you know, like I said, for me when I had my breast cancer diagnosis, I didn't really seek much support in terms of, you know, patient support organizations or that kind of thing. I really feel people in the general population friends, family they understand cancer. So I felt well supported, people knew what I was going through. But I found the having a genetic mutation. People don't really understand that. You know we see this a lot in inherited cancers australia that because people aren't sick, you know, so they're making these huge life-changing decisions like removing their breasts, removing their ovaries, but they're not actually sick and a lot of people, particularly their friends and family, struggle to understand that. Um, and I was so overwhelmed with the amount of decisions to make, so, again, when I had cancer, there wasn't really any decisions. This is what's going to happen. You're going to have your surgery, you're going to have chemo, you're going to have this treatment. But when you have a genetic mutation, you have to make those decisions and you have to decide when and and you know, and people can only tell you the average risks. And we're getting I think we're getting so much better now. You know, back in when I had my testing in 2008, it was kind of these are the risks for all people. Now we can get a little bit more specific with people around their risks, but it's still just a percentage. No one really knows. You know, no one or no one can give you an exact risk and you have to decide what works for you. But the other side of it for me that I really struggle with is my cancer no longer ended with me. I have my daughter, you know, by the time, um, I, you know, got my test, I think. My result she was, you know, almost two, and I had this beautiful tear up baby and I'm like I could have part, and now I potentially have passed this on to her and it just felt like it hadn't ended with me anymore. And so, yeah, I really needed support, and it's that peer support. I needed to speak to other people that understood.

Sarah: 14:52

Um, so, yeah, I googled, as you do, and I found Pink Hope, and this was, you know, a long, long time ago, and Pink Hope was very much in its infancy, I think at that stage they were under the auspice of the national breast cancer foundation, so not actually a sort of standalone charity, and back then there was no Facebook, so we had this online forum and I met a couple of people, one of them who is actually going out with me tonight, so we've stayed friends that long.

Sarah: 15:22

You know she she had a very similar situation got diagnosed with breast cancer, triple negative at 30 and she's actually quite unusual. She has BRCA1 and BRCA2 very rare um but she, um, we just clicked and we've stayed friends because she really understood and I just remember thinking this is an organization I want to support because potentially my children, you know, might be seeking support in the future. So I got very involved and, you know, became friends with the founder and said I'll do whatever I can. So I used to sort of speak at events for them, anything they wanted. But I ended up starting a fun run here in Melbourne called Run for Hope. It ran, it went for six years and over those six years we raised around a hundred thousand dollars for Pink Hope. So yeah, I was heavily, heavily involved and really passionate about and understanding that the needs of people with inherited cancer risk is very different to the needs of people that have cancer.

Matt: 16:28

Yes, I think on that point there's a little bit of I don't know if controversy is the right word like friction that I sometimes see in, like the inherited cancer community between survivors and previvors. And I guess you know, for people that don't or haven't heard the word before, a previvor is somebody who has tested positive to a gene fault that predisposes to cancer, but they haven't actually had cancer themselves. But I think you're right, sort of the needs of people that have had cancer are very different from the needs of people who are at risk of cancer, even though the cause is exactly the same and they could even be in the same family it's a really interesting um thing that we see a lot is guilt, um, survivor guilt.

Sarah: 17:19

So you know, in a family you might have a sister and she gets breast cancer, finds out she has a mutation. So then another sister test, also, has the mutation, but then takes undertakes, risk reducing surgery. But exactly that, that sister that didn't get cancer sort of feels guilty that they had the option not to, you know, not to get cancer. And then you might get another sister that tests negative and they feel guilty because they don't even have to face any of it. So there's so much guilt. And then you've got people that are guilt, you know the guilt, like I have, passing it on to my children. So yeah, it's a big challenge in this community and um, I just, you know, humans are so hard, we're so hard on ourselves because none of this is our fault you know, yeah, it's where you're born.

Matt: 18:05

Guilt is such an interesting emotion. It's not always rational, but you know people definitely feel it. But yeah, I'm glad that you sort of mentioned that Thinking of your daughter. How did you go about thinking about discussing this with a child, like, obviously, you know, from the very start you thought, oh my god, my daughter, I could have potentially passed it on. But yeah, how, how did you sort of approach that?

Sarah: 18:41

um. So you know, and people ask, ask us about that a lot obviously in our organization in talking to children, and you know it, you know your child. It's interesting because we it's a topic that's talked about a lot in the inherited cancers communities, particularly on our online support groups. How do we talk to children about this? And I first want to start by saying I'm not a genetic counsellor and I don't give any medical advice. But you know, I think we all know our children and we know how, you know how they react to things and when is the best time to talk to them, I think in an age-appropriate way. You know, obviously it changes from when they're, say, 13 to when they might be 18. Um, I see very different um ways people handle it. So, for example, my daughter's always been fairly aware because, um, you know, particularly the phone run, for example, particularly with the phone run, my daughter was very involved with that and so of course, she was curious about what are we raising money for? What is this about? So she always was aware and I spoke to talk to her about it in a very age appropriate way, reassured her that you know, things are changing all the time. There's much better options. You know if you have inherited this you'll have more. You know you'll have that knowledge and you know you'll be well looked after. I know other people that don't haven't. Even their children have no idea, you know, and they're waiting until they're much older. So there's no right or wrong way and you have to work out what's best for you.

Sarah: 20:22

We are next, early next year, we're publishing a huge amount of resources on talking to children, talking to other family members, because that's challenging too for a lot of families. So hopefully that sort of communication aspect of inherited cancer risk, we're really trying to cover that because it's really important. But my daughter, she'll turn 17 in two weeks, so she is getting to that age where, um she is able to be tested. Um, a lot of genetic counselors often say well, you don't have to do it at 18 um, you know it's unlikely that at 18 they're going to get breast cancer or, you know, be at risk. However, they always talk about 10 years younger than your youngest relative who was diagnosed. So, unfortunately for Michaela, my daughter, um, because I was diagnosed at 29, she probably doesn't have as much wriggle room, I suppose, as as other people, um, so, yeah, it's something I'll be tackling next year and working out the best way to to talk that through with her.

Matt: 21:27

But she is aware In the clinic in the hospitals, when we're providing genetic counselling or thinking back in the past, it's like there was this magic time, um. You know, I still remember being in clinic. I think it was a Tuesday afternoon when I found out that Angelina Jolie had a BRCA mutation, and it's kind of like pre that time and post that time, um. So I think from that moment um for you it was probably like five or six years that you had, like you knew about um your mutation or gene change. What was it like? Um sort of talking to people, like I'm guessing that maybe you had to sort of explain or educate other people and then, when Angelina came out, did sort of people's knowledge change or how you sort of um navigate medicine? Did that change?

Sarah: 22:29

it's funny we call us saint angelina jolie. I, you know it and it actually I know for for pink hope. It really helped them as an organization that was perhaps struggling a bit to um, gain the funding and and you know support you know to to continue as an organization. It it really helped for me personally. I loved it because you know I used to say, well, I just have that thing Angelina Jolie has. You know I used to joke, oh, you know, if I had to share anything with Angelina, I wish it would be Brad and not Bracko. But yeah, but yeah, I found it really helpful.

Sarah: 23:05

I remember, because I was in a lot of groups that people were almost like, oh, but you know why does she get attention, blah, blah, and I'm just like I think this is a good thing because now it helps people understand a little bit more about you know what it means to carry inherited cancer risk and the decisions you have to make when you're not actually sick at that point. So, um, no, I, I thought it was fantastic and it's funny. Actually, I was at a meeting at Peter Mac yesterday and we were looking at some stats and that they had around the increases in genetic testing and um, there was you know we. We sort of looked at that deep during COVID, of course, and how it went up, but they're like, oh, there's this um increase in 2012, and I went, angelina jolie, and they went, of course, you know so. So, yeah, it's, I mean it's, it's been wonderful because people are starting to go hold on. Maybe I have a genetic mutation, yeah, so you know, I I think it's.

Matt: 24:00

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Matt: 24:51

When we kind of think about how charities in the community sort of work with public health and sort of that overlap, you know a lot of genetic testing and genetic counselling happens in the public system. There are sort of increasingly more private services and private options becoming available, but mainly genetic counselling and genetic testing is in the public sort of system and unfortunately there's a limited amount of money and you know budgets and the public system can't do everything and that's where sort of charities step in and that's where sort of charities step in. How do you see the role of how Inherited Cancers Australia works with the public health system and sort of what sort of services are you fulfilling that is not happening in the public system.

Sarah: 25:44

Yeah, we do. I feel like we fill that gap between the public system. Yeah, we do. I feel like we fill that gap between the health system, the public health system and the patient, because you know we provide support, education, advocacy. You know there are three pillars and it's the reason why most patient organisations exist is because we can provide peer support and that isn't the role of the public system. And particularly when it comes to inherited cancer risk, people need that peer support. They really do. They need to connect with other people that understand they've had to make the same decisions. You know they just want to chat with someone. That that really gets it.

Sarah: 26:21

You know, we started a peer support mentor program this year where we, you know, trained 10 peer support mentors and we only launched it in October and we've already had over 10 people, you know, signed up and we sort of saw it initially as this an ongoing relationship. But a couple of the mentors have said they just wanted to have a chat with someone and then that's it. You know they. But we've got an online support group, but sometimes you just want to have a conversation with someone. So you know that part of what we do is really important, I think the education part it was really important too because, um, our resources um are made you know. Then we have a way of presenting information that is, um we we call it so like an educated best friend, like we're not trying to ram information down people's throats, we're trying to present it in a way that empowers them to make informed decisions. So everything we do is evidence-based, but we try and make it useful, like decision aids or checklists. You're going to see a breast surgeon to talk about having mistakes and here's some questions you might want to ask. So that's the kind of you know, the education that we and information we provide that the public health system doesn't.

Sarah: 27:28

But the reality is, when it comes to something like, um, genetic testing and and having inherited cancer, which you don't really have a specialist, because once you've got your result from your genetic counselor, you know they cannot give that person, they don't have the capacity and nor should it really be their job to constantly be checking in on them. Um, and we're accessible 24 7, you know we. We get dms emails. You know phone calls uh, not that we get phone calls 24 7. We try not to you know, but but you know that's we're here all the time and you know. So I feel like we take a lot of pressure off the system because I'm sure we've filled a lot of the calls and emails that you know that would go to a genetic counselling clinic that you know really don't need to. You know, sometimes they're. You know sometimes they do and, like I said, we're not medical professionals and when people come to us and have something really medical, we say you know, you, you do need to go and see a doctor or your genetic counsellor. But yeah, we're really taking that pressure off and for for many years that's been fine.

Sarah: 28:28

But this increase in genetic testing is becoming unmanageable, you know. But there's five of us in the team and I think we really need to be recognised as a really integral part of of the, the genetic counselling and that person's inherited cancer risk experience to help them because it's ongoing, right, it's, it's. You know it never ends. When you have an inherited cancer risk, you are going to spend your life managing that risk and potentially then your children. You know I describe it like a roller coaster. You know I was up here, had my mastectomy back down again, feeling good. Now you've got to take your ovaries out back up managing, you know, medical or surgical menopause, you know, got on top of that a little bit back down, and now my daughter's getting tested back up, you know. So it's a lifetime of management which our health system doesn't have the capacity to do.

Matt: 29:23

Hmm, I find in clinic that when I have an appointment with a family or you know, a couple or a person who's thinking of genetic testing, it's like they've already made up their mind that they want to have the test. And I actually quite like when people present and this doesn't happen. Very often they say Matt, actually I don't know if I want the test, I'm here to just gather some information and and to really talk over the pros and cons of testing, but I don't know if testing's right for me. That sort of conversation is actually quite rare. I'm wondering if those people are actually having those conversations with you and whether the support group is actually um sort of providing that service for people yeah, absolutely.

Sarah: 30:16

We have over 2,800 people on our support groups and you know there were many conversations like that. You know I, okay, I. You know someone in my family has just found out they have a, a gene fault. You know I'm thinking about testing, you know what you know, so there's definitely that aspect of it. But I honestly think, too, exactly like what you said there was, I think, a lot of genetic counselors time is spent pre-counseling and most of the time those people made the decision. I know that, obviously, the insurance discrimination issues we had were a conversation that genetic counsellors have to have with people and highlight that issue. Now, the legislation hasn't been passed yet, but we're all fingers crossed, hopefully by the next election or just after, but that will happen and that will take that conversation away. So you know that isn't so. You know, I actually think it's post-testing that people really need the support and you know that I think that's where the the time with the counsellors um should be spent more on because, like you say, people are, you know they're pretty smart, they mostly of these days have done their research before they come to you. It's not like, you know, there's so much more information there, um. So, absolutely.

Sarah: 31:34

We just had a look at the stats and we had um 55 000 people accessed our website this year. It's. You know individual people did want you know different ip addresses. I guess, and I think it was 115,000 pages were viewed. So you know, people are using our website, which is fantastic to to get information. We have lots there about what is genetic testing. When should you go and see? You know we have everything there. So I you know. I really do think that we are supporting the healthcare system. We just need the government to recognize that and fund us for it.

Matt: 32:07

Yes, it's so interesting because, um, you know, everything is evolving and everything changes and sort of um, the genetic counselling that you experienced, um, back in the day, is quite different to what's happening now. And I think you're right. That sort of the post-test counselling is sort of the main thing or the more important thing. And in medicine we're seeing this thing called mainstreaming, where genetic testing is being ordered more and more by lots of different types of professionals. I think when it started I still remember I think it was about 10 years ago we started talking about mainstreaming and it sounded amazing. It's like oh great, we're so overwhelmed. And then now people are going to like start ordering their own tests.

Matt: 33:00

And it's kind of funny because I think sometimes some of the medical professionals are ordering the tests themselves, but I thought that they would love it. And I think that in my experience a lot of them are like oh, you know, genetics did such a good job. I wish you know, like it could just stay with genetics, because I like doing my thing and you know, I feel like I'm taking on another thing. What's been your sort of experience with mainstreaming?

Sarah: 33:33

yeah, it's an interesting one. I mean, it makes sense, okay, you know someone's diagnosed with breast cancer. It makes sense, if they've got a fat, you know they hit the criteria, they, you know that they they should, um, you know, be sent for the test and you know they just worries me as long as they're getting the counseling afterwards right, because that's what you guys do best. So you know, I know in a lot of um bigger hospitals, well, they have a genetic counselor there, so that if that person is, you know, that doesn't happen everywhere we have such an inconsistent health system. Um, don't even get me started on the fact that. You know I come from a country that has a much bigger population, but we have one health system. I don't understand why Australia has to have the states and territories run their own health. It doesn't make it's mind-boggling to me, and so that that you know it can do, and even within a state you know you can have different experiences. I think mainstream is good, as long as the person is then either referred into a clinical genetic service or receives some decent genetic counseling afterwards.

Sarah: 34:34

Um, I think the thing with us is right. We deal the health professionals that I have like on our medical advisory committee and the ones that we work with closely are ones that are very supportive and understanding of inherited cancer risk. So I think they're happy to do that, you know, and happy to learn and understand about it. You know genetics is a very understand about it and you know genetics is a very complex area. Hence you guys have to go through a lot of training. So you know, and if you think even down to primary health I don't even know, you know it's like one hour or so it's. So it's something ridiculous that they don't get a lot of training on it.

Sarah: 35:14

Um. So I think if australia is really um serious about sort of bringing genomics into, you know, into our health care system in a really sustainable and equitable way, there's got to be a lot more training, particularly primary health. I think that's where um there's it's lacking and so many gps and and nurses don't really understand it. You know, and it's hard for GPs, they have to know everything about everything. You know it is challenging but, yeah, there's got to be some big shifts in workforce and how we handle it.

Matt: 35:47

Yeah, because obviously primary health care is sort of the main, so it's like the first place that we usually get advice about medicine and most genetics is in tertiary health care, so sort of you know, one or two sort of steps removed.

Matt: 36:04

I think you raise a good point about, um, the complexity of health care in australia. You know, like, um, most genetics is based in the public health system, which is is state-based and the money for testing comes from the state, but then there's a federal government that also has a health department that also sort of does policy on genetic testing and that sort of thing. So yeah, it is complicated, but I know one of the things that they're sort of talking about on a federal level is the idea of providing genetic testing to all women, or offering genetic testing to all women who have been diagnosed with breast cancer, and on one hand I think that's a great thing because that can really help with their treatment and you know that can help with prognosis and maybe it can help with cascade testing in the family and preventing breast cancers. But then on the other, I kind of worry about, uh, the resources that we have in place and what does that mean for me and you?

Sarah: 37:13

so, yes, as you've identified, um, msac made a recommendation about a month ago. Um, because you know that. So we've got half inhibitors. They work really well for people with brachyper 1 and 2 mutations. So, um, there are certain medications and um one particular has. Uh, every time it sort of goes to get pbs listed. They sort of have to keep expanding that criteria for that sort of you know, so it was early breast cancer.

Sarah: 37:40

It went to metastatic and MSAC made the recommendation that let's future-proof this. Let's instead of keep changing the criteria, let's say, well, all women with breast cancer should get genetic testing. Now, as a person and as an organisation, it's fantastic. So I published a paper this year called Magenta, a patient-authored manuscript, and it was around people's understanding, awareness and access to genetic testing and counselling when they were diagnosed with breast cancer. Covered nine countries in the world, so very broad countries too, so very different experiences in different countries. We're actually quite fortunate in Australia if you compare us to sort of low and middle income countries, but always more to do. So I was delighted. This is what Magenta was all about. You know all women with breast cancer should be offered. We know that family history and the criteria doesn't pick up all people and Peter Mack actually did a study called MAG, called magic, where they I think it was about 500 women. They did over a period of time, so they all women with breast cancer. They gave them genetic or offered them genetic testing and counseling and what they found is half, just under half those, or sorry, just over half. Those wouldn't have, uh, wouldn't have got genetic testing on the current criteria. But the important thing is it was a ridiculous I think I can't remember the numbers but 60 or 70 percent or even higher, had their treatment pathway changed with that knowledge right. So it is incredibly important.

Sarah: 39:09

If I think back to my own experience, I wouldn't have had a lumpectomy had I known I had a brachymestation. I would have had a mastectomy at the time. And the the thing for me is I wouldn't have had a lumpectomy had I known I had a brachymesthesia. I would have had a mastectomy at the time. And the thing for me is I wouldn't have had radiation. My reconstruction after my mastectomy was quite complicated because I'd had radiation. I had to have my whole lat muscle removed from my back as part of my reconstruction because my chest wall potentially you know it damages it, you know it makes it weaker I, I suppose and not strong enough to hold an implant. So you know, for me it would have changed a lot. So you know, I do think it's really important.

Sarah: 39:45

Now, exactly like what you said, I crunched the numbers the other day with my colleague Robin. She's our programs and advocacy manager, she's we call her our data nerd. She just loves numbers and and so we went okay. So there's, you know this many people. Let's just go on the 24 numbers. I think it's about 21,000 women projected to get breast cancer.

Sarah: 40:05

Um, so, you know, I think and I'm only using the magic numbers, and you know, obviously that's one cohort in one part of melbourne, but you know, this is the best we've got, I sort of going on the numbers they found in magic. You know, we worked out that. You know how many more people, how many more women, will now find out they've got a BRCA mutation. But it's the cascade testing. And you know, I think there's some studies that say, on average, 3.3 of your family members will go on and do a cascade test.

Sarah: 40:35

Now, it's 50-50, right, so they're not all going to be positive, but those people, those people that are looking into it, will come to us even while they're thinking about it or while they're waiting for their appointment or while they're waiting for their result. So the impact on us as a support organisation is going to be huge, and this is what we're talking to the government about. Fantastic decision. How are you going to help these people? Because they, they're the ones that have to make huge, life-changing decisions. I think you know, having talked to some of the clinical services, the the women that um are diagnosed with breast cancer. Like you said, they'll probably get mainstreamed right, so that's how they'll do their test.

Sarah: 41:14

But it's their family members and and that's like we say. That's where the the huge impact will hit the system. Another point as well, like I always make, is on average, women are waiting at least 18 months to get a prophylactic or risk-reducing mastectomy in australia, and we know women are getting breast cancer while they're on the wait lists. So we know women that access their super, they borrow money because they don't want to wait in the public system. You know I've spoken to women that had their surgery cancelled twice, once on the actual day. You know when they're ready to go in. I speak to people that you know they have to travel miles. If you live regionally, they'll have to go to a you know a big city. They're hours away from their family. They might get a complication. You know they're there on their own.

Sarah: 42:03

You know I've got a ton of awful stories of people and you know the wait lists. Unfortunately they are huge and we really need to address that as well. Like people need to be able to access, we can give them this information, which is fantastic, but if they can't do anything about it, like you know and what that actually does is, it heightens anxiety because you've got to remember as well these people are potentially have seen lots of family members have cancer and they, you know. So they already have that sort of heightened anxiety around cancer. Now they know they're at risk but they're told they might have to wait a couple of years to actually do something about it. So they go on high risk screening programs. You know breast MRIs are not fun. You know no MRIs fun. But laying face down in a, you know, in an MRI machine with a, you know you know, so they have to go through those and then MRIs.

Sarah: 42:54

Of course they're oversensitive, they'll pick and if you're at high risk they'll pick up every single little thing. So people having constant biopsies worrying. You know, you've got all that. Scans it, so you know it's. I think if you look at a population level and lots of people are talking about let's just give everyone genetic testing, that's fantastic and I can see how we will save lives. But I would say to people I'm down here in the coalface and I'm talking to the people that are struggling because our health system isn't able to to support them once they have that information yeah, we we've spoken quite a bit about women in the process and I'm just wondering what you think about bringing more men into the conversation.

Matt: 43:43

Yeah, I guess, from a clinical point of view, or from from the clinic, I think that there there are more women that have testing than men, and there are definitely men out there who are at risk that are not having testing and I just I kind of worry about them. I think what can we do to sort of help or support them? And I guess Inherited Cancers Australia is one of the things that is helping. But, yeah, what do you think about that?

Sarah: 44:09

So, yeah, that brings us back to our name change and we, yeah, we made that decision in August this year, and I mean also, we made the decision before that, obviously, but we actually rebranded in August. It wasn't a decision we took lightly, but it was one that we felt was really important for our organisation. You know, as I say, genomics has evolved in the last 15 years and we had to evolve too. When the organisation was started, we really just knew about BRCA1 and BRCA2, and we really just thought they caused an increased risk of breast and ovarian cancer. Now, you know, you fast forward to today there are many more mutations that we know that cause an increased risk of different cancers. Breast and ovarian are always going to be the ones that have the highest increased risk. Breast and ovarian are always going to be the ones that have the highest increased risk. But we do now know that BRCA1 and BRCA2 give men an increased risk of prostate cancer, and so it's really important that men not just get you know testing for themselves and so they can understand and have know more screening around prostate cancer, but you know that potentially for their children and other family members and we, that was one of our huge.

Sarah: 45:24

You know big reasons. There was two. You know reasons we wanted to change them. One, we want to be more inclusive and not just be pink and about breast cancer. But two, we want to bring men into the conversation and, generally speaking, a man's not going to come to a pink website called pink hope, you know, and that some will. But you know, and it's funny because I said to someone the other day, it's not like we've suddenly had this influx of men because we've changed our name, but it's a step you know we've had.

Sarah: 45:49

So we had. We've had such positive feedback about the name change from our community. But a couple of people have said this is so good because now I can send your resources, send your website to my brother, to my cousin you know whoever it is and it doesn't feel like I'm sending them something pink, you know. They can actually see that it's valuable. Again, looking at the stats yesterday that Peter Muck was showing me, I think about, in the cascade testing, two-thirds women, one-third men. You know, and it shouldn't be like that, it's a 50-50, you know. So there is definitely work to be done around encouraging men to, particularly when they have a family member that they know or you know they know that there's this mutation in the family. It's about, you know, getting them to understand their own risk but also the value for their family members.

Matt: 46:41

One of the things that I love about Inherited Cancers Australia is that you work very closely with one of my good friends, laura Forrest, so Laura is a genetic counsellor. She is also a previous podcast guest host on this podcast. We had a great conversation together, but how important was it for you or for your organisation to have that genetic counselling input.

Sarah: 47:13

It's. You know, it's invaluable, laura. Laura and I have a a funny history too, just like you, but um, not long after I found out about my mutation, laura contacted me through um, the familial cancer center, and said um, you know she was doing she does a lot of psychosocial research into people with inherited cancer risk and asked if I would help and I think I was looking at some emails the other day. It would have been around 2012-2013 and so I was like sure, happy to help.

Sarah: 47:46

And it's quite funny because back in back then, you know, pre-covid, she just came over to my house and we had a chat. It was really nice and Laura and I just stayed in touch. I was always, you know, happy to help out, really liked her and you know we got on well. And then when I took over as CEO of Inherited Cancers Australia, she called me and said I'd love to have a chat and she just gave me a bit of feedback about what some of the people, the patients you know, and just a bit of feedback to help us guide, you know, our sort of next few years which was great, you know, really honest feedback, which is what we need, um, and then we decided early this year we really needed to start an official medical advisory committee.

Sarah: 48:32

So we unofficially had lots of experts that were always happy to help us, and we really need to formalize, formalize this. And I thought, right, who do I want as a chair? And I said it has to be a genetic counselor. I said this to my board because that's you know this that is the most important part of of what we're about.

Sarah: 48:52

So, um, I called Laura and I was like, hey, and you know she's busy, like for everyone and but she, she jumped to the chart. She was so, um, happy to help and so we spent a couple of months working out who we'd invite. We had this huge list because, you know, people are busy and pretty much everyone said yes, like we're really lucky, we have a. You know, laura said after our first meeting she goes wow, we've got some really incredible, you know smart, um, people that are really understand, you know, inherited cancer. We wanted to choose. You know, we've got a breast surgeon and a plastic surgeon and a gyneon and now we've actually got a gastroenterologist and so it's a really you know, a menopause expert.

Sarah: 49:32

We've really tried to to cover and, you know, and hopefully we'll grow in the future, so you're having Laura there, but Laura's even you know before that she's always there. I send her lots of emails. She's very helpful, patient, um, and yeah, she's been really, really supportive. So, yeah, look, our connection with genetic counselors is so important and I and we've really built that over the last few years with the clinical genetic services in Australia. I know many of them will tell patients about us because they know that we can help them with that ongoing decision making and support.

Matt: 50:08

Well, what a beautiful place to finish up. Thank you so much, Sarah. I really enjoyed having this talk with you and to learn a bit more about Inherited Cancers Australia. And yeah, I wish you and the organisation all the success moving forward.

Sarah: 50:25

Thank you so much. Thanks for having me. It's been great.

Matt: 50:28

Thank you, and that's a wrap of this special episode as part of Podcast Thon. A big thank you to our sponsor, trackgene, and also to Angelica, our editor. If you enjoyed this special episode, check out podcastthonorg to find out about hundreds of other charities being featured by some amazing other podcasts. You