March 17, 2025 • 51 mins
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.
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Episode Transcript
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Matt (00:01):
Hi, my name is Matt Burgess and I am the host of
Demystifying Genetics.
This is a special episode ofDemystifying Genetics, as we are
participating in this thirdedition of Podcast Thon.
For one week, more than athousand podcasts will highlight
a charity of their choice, andtoday I am excited to be
(00:21):
speaking with Sarah Powell, theCEO of Inherited Cancers,
australia.
Hi, sarah, and welcome toDemystifying Genetics.
Sarah (00:35):
Hi, Matt, thank you for having me.
Matt (00:37):
Now, this is a really exciting week in podcasting.
There's a thing calledPodcastthon, and podcasts from
all over the world arehighlighting various charities,
and the charity that I thoughtthat I would like to sort of
become involved with is acharity that you work at.
So, yeah, inherited Cancers.
(01:01):
How, yeah, tell me aboutInherited Cancers.
I don't even know where tostart.
How did you get involved?
What do you do?
What is it?
Sarah (01:09):
Wow.
So that's a big story.
So Inherited Cancers Australia.
We rebranded from Pink Hope inAugust this year and I'll come
to that a little bit later.
But how I got involved was dueto my own personal history.
So when I was 29 years old Iwas diagnosed with triple
(01:29):
negative breast cancer, and thiswas in 2006.
So quite a shock.
No family history Didn't getgenetic testing because at that
time everyone asked if I had afamily history of breast or
ovarian cancer, which I don't,so genetic testing was never
offered.
Got through treatment, fellpregnant a few weeks after
(01:50):
finishing my treatment.
Matt (01:51):
Oh, wow.
Sarah (01:52):
Yeah, a bit of a whirlwind, particularly as I was
told that chemo would mostlikely, you know, affect my
fertility.
We even froze embryos before Istarted chemo just, you know, as
a sort of insurance plan, andfell pregnant naturally, had my
(02:12):
baby and it actually was quite anice way to end a pretty crappy
year.
Let's be honest, you know andit was, you know, my focus was
on my baby and I had a daughterand when she was about a year,
18 months old, it didn't sitright that I was 29 having
breast cancer.
You know, stats would sayprobably less than 5% of people
you know would get breast cancerunder 30.
(02:33):
So I did a little bit ofresearch and I started to read
about the BRCA, or the BRCAmutations, and how they're much
more prevalent in AshkenaziJewish people and Ashkenazi just
means Jewish people fromEastern Europe and my dad's
family are Jewish from Lithuaniaand you know the bells start
(02:54):
ringing and you're like, oh,hold on a minute.
So I actually and back then youcould self-refer, it's quite
different now I just called upPeter Mac in Melbourne and said,
look, this has happened to me.
You know, I had triple negativebreast cancer at 29 and I have
Ashkenazi, jewish ancestry, Ithink.
For them they were probablylike yep.
(03:14):
So they said you know, theysent me the forms you do, your
pedigree or your family historyof you know what cancers.
And as it turns out, when Istarted digging around my
grandma so that my dad's familyare very small, my dad, dad's
sister, died very young from MSand his brother married quite
(03:35):
late in life, so never had hisown children, so I don't have
cousins and my uncle is the onlyliving relative.
My dad passed away when I wasyounger so I asked him how.
I said how did you know grandmadie?
And I think you know back inthat 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 atthat point and she said, oh, I
(03:57):
don't know, I think it couldhave been uterine cancer, could
have been ovarian, and I got adeath certificate and of course
your death certificate reallyonly shows what you die of, not
you know, and that wasn'tactually her cause of death.
So I really didn't haveanything to go on.
But then someone rememberedthat perhaps her sister had
breast cancer.
So I gave all this to Peter Macand they invited me in very
quickly.
Back then the clinics weren'tperhaps as overwhelmed or you
(04:21):
know as they are now, so wentstraight in.
Uh, they counseled me, we didthe test and they said, look, it
could take four months for aresult to come back.
And they called me after abouttwo months and said you know,
we've got your result, you needto come in.
And I think I knew at thatpoint you know being called in
early um and I suspect, beingJewish as well, you know they.
(04:42):
There are certain types of BRCAmutations that they call them
the Jewish founder mutations.
And that's the one I have, soit's probably a little bit
easier to identify.
But, yeah, sure enough.
So I had a BRCA1 mutation andfor me it just changed
everything.
You know, I feel like I breezedthrough my breast cancer
diagnosis, and having breastcancer is not or any cancer is
(05:03):
not easy.
Matt (05:06):
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 theyou know the last thing on your
mind did you find a lump, andwhat was the conversation like
with the doctor and how long didit take to actually get that
diagnosis confirmed?
Sarah (05:27):
Yeah, look, when I think back, I was pretty lucky because
you know, I do hear of womenthat perhaps get sort of bobbed
off, particularly when they'reyounger.
I was in Thailand on holiday andI feel really fortunate that my
tumour was almost like rightright under my, so far around my
breast.
It was almost under my armpit.
So you know, when you'rewashing under your arms, I mean,
(05:49):
oh, that's a funny little lump,um, and I was actually studying
biotechnology at uni at thattime and I, you know, I decided
to go back as a mature agestudent and study, and we've
been doing a lot about cancerand you know what, you know how
they um, you know it's quitehard and you know it's got
irregular, uh, feels irregular,and so I sort of had all that in
(06:09):
my mind.
But then also what I thoughtI'm 29, like you know, this is
silly, so, but it's the back ofmy mind.
But when I got home I went tosee my GP and she, you know, do
you have a family history?
You're very young, unlikely tobe anything, but I'm going to
send you for an ultrasound.
So I went for the ultrasoundand the guy doing it said to me
have you been sick recently andI said no, and he said you've
(06:31):
got a lot of enlarged lymphnodes in your breast as well as
this one.
He said you need to go back toyour doctor.
So I went back to the GP andshe was like, okay, I'll refer
you to a breast clinic.
So I went there and theybiopsied it that day and the
radiographer and she it's funnyand she told me afterwards she
said I knew it was cancer.
She said I see enough.
(06:51):
But she said I obviouslycouldn't say that until we had
the pathology.
But she said to me I want tobook appointment for tomorrow.
So I came back the next day andand at this point my um, my
husband at the time, he wasreally like this is nothing, so
he didn't come to a singleappointment with me, even to the
one where they told me.
But yeah, I turned up and theysaid look, we're all sorry, it's
(07:11):
breast cancer.
It's an aggressive, you knowgrade three, triple negative
breast cancer.
But it's very small.
It was 1.2 centimeters.
So they said this is reallypositive.
We found it very, very early.
So they said this is reallypositive.
We found it very, very early.
So at that point, because Ididn't know about my mutation.
I just had a lumpectomy and wegot clear margins.
So that was all great.
But I did start.
(07:34):
I went on about, I'm trying tothink, three or four months of
chemo, different types of chemo,and because of my age they said
look, we can do what they calldose stents, do it every two
weeks.
Um, because you're a bityounger you can sort of manage
that and you know I managed itrelatively well.
Fair bit of joint pain.
I ended up with neuropathy inmy hands and arms, a bit um, a
(07:56):
little bit of nausea, but youknow it was managed reasonably
well.
Um, and then radiotherapy for aI 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 meand they went uh, you're not
here and I was like what and um,but you know, and actually it's
(08:17):
funny because back then triplenegative had no adjuvant, there
was nothing you could takeafterwards, and I remember going
to my last radiotherapyappointment and then just
sitting in the car and cryingbecause 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 thesepeople around you and it felt
really overwhelming because itwas literally like good luck.
(08:38):
Um, my oncologist said to meplease do not get pregnant in
the next two years.
You know triple negative oftenbecause you know within next two
years, you know triple negativeoften because you know within
those two years.
He said, I don't want to betreating you pregnant or, you
know, with a young child.
So um, didn't listen to thatadvice 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 itall turned out okay.
(09:00):
Um, I joked.
I went into his office and Ihad to tell him and I felt like
a teenager telling his dad I'mpregnant, like, oh, I'm pregnant
, and he just said, well, it iswhat you know, it is what it is,
and so so, yeah, so off I wentand so, yeah, I feel really
fortunate, everyone took it veryseriously, like, well, they,
they, you know there was alwaysthat I'm sure it's nothing, but
(09:21):
we'll keep, you know, doing thetests.
So I was lucky in that way.
Matt (09:24):
Okay and you said, sort of in the process of genetic
counselling you were gatheringinformation about your family
and you know your family's smalland some people have passed
away.
I can detect a slight Englishaccent, but you were living in
Australia.
Were you family like when yousaid you were talking to your
(09:47):
uncle?
Was he overseas and how didthat sort of complicate things
being sort of really spread out?
Sarah (09:55):
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 myselfand my brother as sort of.
You know he uses email and so,and we've always stayed in touch
in that way.
I think for him he sees myselfand my brother as sort of you
know he's only living sort ofyou know, biological family, I
suppose, because, like I said,he has children, but they, you
(10:16):
know, by marriage.
So he was, so we always stayedin contact.
So he, you know, when I saidyou know, know, I'm
investigating this, he, he gaveme as much information as he
could.
Um, he's never had the testactually, 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.
(10:37):
So he's sort of I mean, youknow 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 youidentify as like?
Are you Jewish or?
Sarah (11:02):
yeah, that's an interesting story too.
So to be Jewish, your mum hasto be well, they have to convert
right.
And my dad was, uh, notorthodox in any way.
His, his parents were, so, um,he committed the sort of
ultimate Jewish crime bymarrying a non-Jewish woman and
he, he actually got sort ofostracized really from his
parents.
(11:22):
His dad died before I was born,um, but, um, my grandma was
actually the most incrediblegrandma, so for me, my, my
siblings, like she was amazing,uh, but she, her, and my mum
just never got on because, youknow, it's, it's, it was very
important to her that my dadmarried 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 notJewish, um, I guess, yeah uh,
yeah, it's just interestingbecause, yeah, like in genetics,
we obviously, uh like whenwe're thinking of genetic
testing, certain mutations aremore common in people from
(12:04):
different backgrounds.
And quite often we sort of askyou know what's your ethnic
background or where do yourfamily come from?
But yeah, with the Jewishness,yeah, you inherit or you become
Jewish from your mum and from agenetics point of view, we don't
really we're not really askingare you Jewish?
But yeah, it's just ainteresting sort of cultural
(12:25):
thing.
Sarah (12:26):
It is, and you know, as you would know.
You know, if we say generalpopulation, about one in 400
people would have a geneticmutation causing cancer.
In Ashkenazi Jewish people it'sabout one in 40.
It's significantly higher.
I know that the NHS in the UKnow are allowing anyone with and
it doesn't have to be like theEastern Europe anyone with
(12:46):
Jewish ancestry I think back toyour grandfather can now get
access genetic testing, which isfantastic.
Matt (12:53):
And was it after you received your genetic diagnosis
that you became involved withPink Hope?
Sarah (12:59):
Yeah.
So you know, like I said, forme when I had my breast cancer
diagnosis, I didn't really seekmuch support in terms of, you
know, patient supportorganizations or that kind of
thing.
I really feel people in thegeneral population friends,
family they understand cancer.
So I felt well supported,people knew what I was going
through.
But I found the having agenetic mutation.
(13:22):
People don't really understandthat.
You know we see this a lot ininherited cancers australia that
because people aren't sick, youknow, so they're making these
huge life-changing decisionslike removing their breasts,
removing their ovaries, butthey're not actually sick and a
lot of people, particularlytheir friends and family,
struggle to understand that.
Um, and I was so overwhelmedwith the amount of decisions to
(13:46):
make, so, again, when I hadcancer, there wasn't really any
decisions.
This is what's going to happen.
You're going to have yoursurgery, you're going to have
chemo, you're going to have thistreatment.
But when you have a geneticmutation, you have to make those
decisions and you have todecide when and and you know,
and people can only tell you theaverage risks.
And we're getting I think we'regetting so much better now.
You know, back in when I had mytesting in 2008, it was kind of
(14:08):
these are the risks for allpeople.
Now we can get a little bitmore specific with people around
their risks, but it's stilljust a percentage.
No one really knows.
You know, no one or no one cangive you an exact risk and you
have to decide what works foryou.
But the other side of it for methat I really struggle with is
my cancer no longer ended withme.
(14:29):
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'mlike I could have part, and now
I potentially have passed thison to her and it just felt like
it hadn't ended with me anymore.
And so, yeah, I really neededsupport, and it's that peer
support.
(14:49):
I needed to speak to otherpeople that understood.
Um, so, yeah, I googled, as youdo, and I found Pink Hope, and
this was, you know, a long, longtime ago, and Pink Hope was
very much in its infancy, Ithink at that stage they were
under the auspice of thenational breast cancer
foundation, so not actually asort of standalone charity, and
(15:13):
back then there was no Facebook,so we had this online forum and
I met a couple of people, oneof them who is actually going
out with me tonight, so we'vestayed friends that long.
You know she she had a verysimilar situation got diagnosed
with breast cancer, triplenegative at 30 and she's
actually quite unusual.
She has BRCA1 and BRCA2 veryrare um but she, um, we just
(15:34):
clicked and we've stayed friendsbecause she really understood
and I just remember thinkingthis is an organization I want
to support because potentiallymy children, you know, might be
seeking support in the future.
So I got very involved and, youknow, became friends with the
founder and said I'll dowhatever I can.
(15:56):
So I used to sort of speak atevents for them, anything they
wanted.
But I ended up starting a funrun here in Melbourne called Run
for Hope.
It ran, it went for six yearsand over those six years we
raised around a hundred thousanddollars for Pink Hope.
So yeah, I was heavily, heavilyinvolved and really passionate
(16:17):
about and understanding that theneeds of people with inherited
cancer risk is very different tothe 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 theright word like friction that I
sometimes see in, like theinherited cancer community
between survivors and previvors.
And I guess you know, forpeople that don't or haven't
heard the word before, aprevivor is somebody who has
(16:50):
tested positive to a gene faultthat predisposes to cancer, but
they haven't actually had cancerthemselves.
But I think you're right, sortof the needs of people that have
had cancer are very differentfrom the needs of people who are
at risk of cancer, even thoughthe cause is exactly the same
and they could even be in thesame family it's a really
(17:13):
interesting um thing that we seea 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 outshe has a mutation.
So then another sister test,also, has the mutation, but then
takes undertakes, risk reducingsurgery.
But exactly that, that sisterthat didn't get cancer sort of
feels guilty that they had theoption not to, you know, not to
(17:41):
get cancer.
And then you might get anothersister that tests negative and
they feel guilty because theydon't even have to face any of
it.
So there's so much guilt.
And then you've got people thatare guilt, you know the guilt,
like I have, passing it on to mychildren.
So yeah, it's a big challengein this community and um, I just
, you know, humans are so hard,we're so hard on ourselves
(18:01):
because none of this is ourfault you know, yeah, it's where
you're born.
Matt (18:05):
Guilt is such an interesting emotion.
It's not always rational, butyou know people definitely feel
it.
But yeah, I'm glad that yousort of mentioned that Thinking
of your daughter.
How did you go about thinkingabout discussing this with a
(18:28):
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 sortof approach that?
Sarah (18:41):
um.
So you know, and people ask,ask us about that a lot
obviously in our organization intalking to children, and you
know it, you know your child.
It's interesting because weit's a topic that's talked about
a lot in the inherited cancerscommunities, particularly on our
online support groups.
How do we talk to childrenabout this?
(19:01):
And I first want to start bysaying I'm not a genetic
counsellor and I don't give anymedical advice.
But you know, I think we allknow our children and we know
how, you know how they react tothings and when is the best time
to talk to them, I think in anage-appropriate way.
(19:21):
You know, obviously it changesfrom when they're, say, 13 to
when they might be 18.
Um, I see very different umways people handle it.
So, for example, my daughter'salways been fairly aware because
, um, you know, particularly thephone run, for example,
(19:43):
particularly with the phone run,my daughter was very involved
with that and so of course, shewas curious about what are we
raising money for?
What is this about?
So she always was aware and Ispoke 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 inheritedthis you'll have more.
(20:05):
You know you'll have thatknowledge and you know you'll be
well looked after.
I know other people that don'thaven't.
Even their children have noidea, you know, and they're
waiting until they're much older.
So there's no right or wrongway and you have to work out
what's best for you.
We are next, early next year,we're publishing a huge amount
(20:26):
of resources on talking tochildren, talking to other
family members, because that'schallenging too for a lot of
families.
So hopefully that sort ofcommunication aspect of
inherited cancer risk, we'rereally trying to cover that
because it's really important.
But my daughter, she'll turn 17in two weeks, so she is getting
(20:47):
to that age where, um she isable to be tested.
Um, a lot of genetic counselorsoften say well, you don't have
to do it at 18 um, you know it'sunlikely that at 18 they're
going to get breast cancer or,you know, be at risk.
However, they always talk about10 years younger than your
youngest relative who wasdiagnosed.
(21:09):
So, unfortunately for Michaela,my daughter, um, because I was
diagnosed at 29, she probablydoesn't have as much wriggle
room, I suppose, as as otherpeople, um, so, yeah, it's
something I'll be tackling nextyear and working out the best
way to to talk that through withher.
Matt (21:27):
But she is aware In the clinic in the hospitals, when
we're providing geneticcounselling or thinking back in
the past, it's like there wasthis magic time, um.
You know, I still rememberbeing in clinic.
I think it was a Tuesdayafternoon when I found out that
Angelina Jolie had a BRCAmutation, and it's kind of like
(21:52):
pre that time and post that time, um.
So I think from that moment umfor 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
(22:13):
had to sort of explain oreducate other people and then,
when Angelina came out, did sortof people's knowledge change or
how you sort of um navigatemedicine?
Did that change?
Sarah (22:29):
it's funny we call us saint angelina jolie.
I, you know it and it actuallyI know for for pink hope.
It really helped them as anorganization that was perhaps
struggling a bit to um, gain thefunding and and you know
support you know to to continueas an organization.
It it really helped for mepersonally.
I loved it because you know Iused to say, well, I just have
(22:51):
that thing Angelina Jolie has.
You know I used to joke, oh,you know, if I had to share
anything with Angelina, I wishit would be Brad and not Bracko.
But yeah, but yeah, I found itreally helpful.
I remember, because I was in alot of groups that people were
almost like, oh, but you knowwhy does she get attention, blah
, blah, and I'm just like Ithink this is a good thing
(23:13):
because now it helps peopleunderstand a little bit more
about you know what it means tocarry inherited cancer risk and
the decisions you have to makewhen you're not actually sick at
that point.
So, um, no, I, I thought it wasfantastic and it's funny.
Actually, I was at a meeting atPeter Mac yesterday and we were
looking at some stats and thatthey had around the increases in
(23:35):
genetic testing and um, therewas you know we.
We sort of looked at that deepduring 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 holdon.
Maybe I have a genetic mutation, yeah, so you know, I I think
(24:00):
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Matt (24:00):
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(24:51):
When we kind of think about howcharities in the community sort
of work with public health andsort of that overlap, you know a
lot of genetic testing andgenetic counselling happens in
the public system.
There are sort of increasinglymore private services and
private options becomingavailable, but mainly genetic
counselling and genetic testingis in the public sort of system
(25:13):
and unfortunately there's alimited amount of money and you
know budgets and the publicsystem can't do everything and
that's where sort of charitiesstep in and that's where sort of
charities step in.
How do you see the role of howInherited Cancers Australia
(25:34):
works with the public healthsystem and sort of what sort of
services are you fulfilling thatis not happening in the public
system.
Sarah (25:44):
Yeah, we do.
I feel like we fill that gapbetween the public system.
Yeah, we do.
I feel like we fill that gapbetween the health system, the
public health system and thepatient, because you know we
provide support, education,advocacy.
You know there are threepillars and it's the reason why
most patient organisations existis because we can provide peer
support and that isn't the roleof the public system.
(26:07):
And particularly when it comesto inherited cancer risk, people
need that peer support.
They really do.
They need to connect with otherpeople that understand they've
had to make the same decisions.
You know they just want to chatwith someone.
That that really gets it.
You know, we started a peersupport mentor program this year
where we, you know, trained 10peer support mentors and we only
(26:28):
launched it in October andwe've already had over 10 people
, you know, signed up and wesort of saw it initially as this
an ongoing relationship.
But a couple of the mentorshave said they just wanted to
have a chat with someone andthen that's it.
You know they.
But we've got an online supportgroup, but sometimes you just
want to have a conversation withsomeone.
So you know that part of whatwe do is really important, I
(26:48):
think the education part it wasreally important too because, um
, our resources um are made youknow.
Then we have a way ofpresenting information that is,
um we we call it so like aneducated best friend, like we're
not trying to ram informationdown people's throats, we're
trying to present it in a waythat empowers them to make
(27:10):
informed decisions.
So everything we do isevidence-based, but we try and
make it useful, like decisionaids or checklists.
You're going to see a breastsurgeon to talk about having
mistakes and here's somequestions you might want to ask.
So that's the kind of you know,the education that we and
information we provide that thepublic health system doesn't.
But the reality is, when itcomes to something like, um,
(27:31):
genetic testing and and havinginherited cancer, which you
don't really have a specialist,because once you've got your
result from your geneticcounselor, you know they cannot
give that person, they don'thave the capacity and nor should
it really be their job toconstantly be checking in on
them.
Um, and we're accessible 24 7,you know we.
We get dms emails.
You know phone calls uh, notthat we get phone calls 24 7.
(27:54):
We try not to you know, but butyou know that's we're here all
the time and you know.
So I feel like we take a lot ofpressure off the system because
I'm sure we've filled a lot ofthe calls and emails that you
know that would go to a geneticcounselling 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
(28:16):
professionals and when peoplecome to us and have something
really medical, we say you know,you, you do need to go and see
a doctor or your geneticcounsellor.
But yeah, we're really takingthat pressure off and for for
many years that's been fine.
But this increase in genetictesting is becoming unmanageable
, you know.
But there's five of us in theteam and I think we really need
to be recognised as a reallyintegral part of of the, the
(28:40):
genetic counselling and thatperson's inherited cancer risk
experience to help them becauseit's ongoing, right, it's, it's.
You know it never ends.
When you have an inheritedcancer risk, you are going to
spend your life managing thatrisk and potentially then your
children.
You know I describe it like aroller coaster.
You know I was up here, had mymastectomy back down again,
(29:04):
feeling good.
Now you've got to take yourovaries out back up managing,
you know, medical or surgicalmenopause, 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 ofmanagement which our health
system doesn't have the capacityto do.
Matt (29:23):
Hmm, I find in clinic that when I have an appointment with
a family or you know, a coupleor a person who's thinking of
genetic testing, it's likethey've already made up their
mind that they want to have thetest.
And I actually quite like whenpeople present and this doesn't
happen.
(29:43):
Very often they say Matt,actually I don't know if I want
the test, I'm here to justgather some information and and
to really talk over the pros andcons of testing, but I don't
know if testing's right for me.
That sort of conversation isactually quite rare.
I'm wondering if those peopleare actually having those
(30:05):
conversations with you andwhether the support group is
actually um sort of providingthat service for people yeah,
absolutely.
Sarah (30:16):
We have over 2,800 people on our support groups and you
know there were manyconversations like that.
You know I, okay, I.
You know someone in my familyhas just found out they have a,
a gene fault.
You know I'm thinking abouttesting, you know what you know,
so there's definitely thataspect of it.
But I honestly think, too,exactly like what you said there
(30:41):
was, I think, a lot of geneticcounselors time is spent
pre-counseling and most of thetime those people made the
decision.
I know that, obviously, theinsurance discrimination issues
we had were a conversation thatgenetic counsellors have to have
with people and highlight thatissue.
Now, the legislation hasn'tbeen passed yet, but we're all
(31:02):
fingers crossed, hopefully bythe next election or just after,
but that will happen and thatwill take that conversation away
.
So you know that isn't so.
You know, I actually think it'spost-testing that people really
need the support and you knowthat I think that's where the
the time with the counsellors umshould be spent more on because
(31:23):
, like you say, people are, youknow they're pretty smart, they
mostly of these days have donetheir research before they come
to you.
It's not like, you know,there's so much more information
there, um.
So, absolutely.
We just had a look at the statsand we had um 55 000 people
accessed our website this year.
It's.
You know individual people didwant you know different ip
(31:44):
addresses.
I guess, and I think it was115,000 pages were viewed.
So you know, people are usingour website, which is fantastic
to to get information.
We have lots there about whatis genetic testing.
When should you go and see?
You know we have everythingthere.
So I you know.
I really do think that we aresupporting the healthcare system
.
We just need the government torecognize that and fund us for
(32:07):
it.
Matt (32:07):
Yes, it's so interesting because, um, you know,
everything is evolving andeverything changes and sort of
um, the genetic counselling thatyou experienced, um, back in
the day, is quite different towhat's happening now.
And I think you're right.
That sort of the post-testcounselling is sort of the main
(32:30):
thing or the more importantthing.
And in medicine we're seeingthis thing called mainstreaming,
where genetic testing is beingordered more and more by lots of
different types ofprofessionals.
I think when it started I stillremember I think it was about
10 years ago we started talkingabout mainstreaming and it
(32:53):
sounded amazing.
It's like oh great, we're sooverwhelmed.
And then now people are goingto like start ordering their own
tests.
And it's kind of funny because Ithink sometimes some of the
medical professionals areordering the tests themselves,
but I thought that they wouldlove it.
And I think that in myexperience a lot of them are
(33:15):
like oh, you know, genetics didsuch a good job.
I wish you know, like it couldjust stay with genetics, because
I like doing my thing and youknow, I feel like I'm taking on
another thing.
What's been your sort ofexperience 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 gota fat, you know they hit the
criteria, they, you know thatthey they should, um, you know,
be sent for the test and youknow they just worries me as
long as they're getting thecounseling afterwards right,
because that's what you guys dobest.
So you know, I know in a lot ofum bigger hospitals, well, they
(33:56):
have a genetic counselor there,so that if that person is, you
know, that doesn't happeneverywhere we have such an
inconsistent health system.
Um, don't even get me startedon the fact that.
You know I come from a countrythat has a much bigger
population, but we have onehealth system.
I don't understand whyAustralia has to have the states
and territories run their ownhealth.
It doesn't make it'smind-boggling to me, and so that
(34:18):
that you know it can do, andeven within a state you know you
can have different experiences.
I think mainstream is good, aslong as the person is then
either referred into a clinicalgenetic service or receives some
decent genetic counselingafterwards.
Um, I think the thing with us isright.
(34:39):
We deal the healthprofessionals that I have like
on our medical advisorycommittee and the ones that we
work with closely are ones thatare very supportive and
understanding of inheritedcancer risk.
So I think they're happy to dothat, you know, and happy to
learn and understand about it.
You know genetics is a veryunderstand about it and you know
genetics is a very complex area.
Hence you guys have to gothrough a lot of training.
(35:01):
So you know, and if you thinkeven down to primary health I
don't even know, you know it'slike one hour or so it's.
So it's something ridiculousthat they don't get a lot of
training on it.
Um.
So I think if australia isreally um serious about sort of
bringing genomics into, you know, into our health care system in
(35:23):
a really sustainable andequitable way, there's got to be
a lot more training,particularly primary health.
I think that's where um there'sit's lacking and so many gps
and and nurses don't reallyunderstand 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
(35:44):
big shifts in workforce and howwe handle it.
Matt (35:47):
Yeah, because obviously primary health care is sort of
the main, so it's like the firstplace that we usually get
advice about medicine and mostgenetics is in tertiary health
care, so sort of you know, oneor two sort of steps removed.
I think you raise a good pointabout, um, the complexity of
(36:09):
health care in australia.
You know, like, um, mostgenetics is based in the public
health system, which is isstate-based and the money for
testing comes from the state,but then there's a federal
government that also has ahealth department that also sort
of does policy on genetictesting and that sort of thing.
So yeah, it is complicated, butI know one of the things that
(36:33):
they're sort of talking about ona federal level is the idea of
providing genetic testing to allwomen, or offering genetic
testing to all women who havebeen diagnosed with breast
cancer, and on one hand I thinkthat's a great thing because
that can really help with theirtreatment and you know that can
(36:56):
help with prognosis and maybe itcan help with cascade testing
in the family and preventingbreast cancers.
But then on the other, I kindof worry about, uh, the
resources that we have in placeand 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 forpeople with brachyper 1 and 2
mutations.
So, um, there are certainmedications and um one
particular has.
Uh, every time it sort of goesto get pbs listed.
(37:35):
They sort of have to keepexpanding that criteria for that
sort of you know, so it wasearly breast cancer.
It went to metastatic and MSACmade the recommendation that
let's future-proof this.
Let's instead of keep changingthe criteria, let's say, well,
all women with breast cancershould get genetic testing.
Now, as a person and as anorganisation, it's fantastic.
(37:55):
So I published a paper thisyear called Magenta, a
patient-authored manuscript, andit was around people's
understanding, awareness andaccess to genetic testing and
counselling when they werediagnosed with breast cancer.
Covered nine countries in theworld, so very broad countries
too, so very differentexperiences in different
(38:15):
countries.
We're actually quite fortunatein Australia if you compare us
to sort of low and middle incomecountries, but always more to
do.
So I was delighted.
This is what Magenta was allabout.
You know all women with breastcancer should be offered.
We know that family history andthe criteria doesn't pick up
all people and Peter Mackactually did a study called MAG,
(38:36):
called magic, where they Ithink it was about 500 women.
They did over a period of time,so they all women with breast
cancer.
They gave them genetic oroffered them genetic testing and
counseling and what they foundis 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 itwas a ridiculous I think I can't
(39:01):
remember the numbers but 60 or70 percent or even higher, had
their treatment pathway changedwith that knowledge right.
So it is incredibly important.
If I think back to my ownexperience, I wouldn't have had
a lumpectomy had I known I had abrachymestation.
I would have had a mastectomyat the time.
And the the thing for me is Iwouldn't have had a lumpectomy
had I known I had abrachymesthesia.
(39:21):
I would have had a mastectomyat the time.
And the thing for me is Iwouldn't have had radiation.
My reconstruction after mymastectomy was quite complicated
because I'd had radiation.
I had to have my whole latmuscle removed from my back as
part of my reconstructionbecause my chest wall
potentially you know it damagesit, you know it makes it weaker
I, I suppose and not strongenough to hold an implant.
So you know, for me it wouldhave changed a lot.
(39:41):
So you know, I do think it'sreally important.
Now, exactly like what you said,I crunched the numbers the
other day with my colleagueRobin.
She's our programs and advocacymanager, she's we call her our
data nerd.
She just loves numbers and andso we went okay.
So there's, you know this manypeople.
Let's just go on the 24 numbers.
I think it's about 21,000 womenprojected to get breast cancer.
(40:05):
Um, so, you know, I think andI'm only using the magic numbers
, and you know, obviously that'sone cohort in one part of
melbourne, but you know, this isthe best we've got, I sort of
going on the numbers they foundin 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 BRCAmutation.
(40:25):
But it's the cascade testing.
And you know, I think there'ssome studies that say, on
average, 3.3 of your familymembers will go on and do a
cascade test.
Now, it's 50-50, right, sothey're not all going to be
positive, but those people,those people that are looking
into it, will come to us evenwhile they're thinking about it
or while they're waiting fortheir appointment or while
(40:47):
they're waiting for their result.
So the impact on us as asupport organisation is going to
be huge, and this is what we'retalking to the government about
.
Fantastic decision.
How are you going to help thesepeople?
Because they, they're the onesthat have to make huge,
life-changing decisions.
I think you know, having talkedto some of the clinical
services, the the women that umare diagnosed with breast cancer
(41:11):
.
Like you said, they'll probablyget mainstreamed right, so
that's how they'll do their test.
But it's their family membersand and that's like we say.
That's where the the hugeimpact will hit the system.
Another point as well, like Ialways make, is on average,
women are waiting at least 18months to get a prophylactic or
risk-reducing mastectomy inaustralia, and we know women are
(41:36):
getting breast cancer whilethey're on the wait lists.
So we know women that accesstheir super, they borrow money
because they don't want to waitin the public system.
You know I've spoken to womenthat had their surgery cancelled
twice, once on the actual day.
You know when they're ready togo in.
I speak to people that you knowthey have to travel miles.
If you live regionally, they'llhave to go to a you know a big
(41:57):
city.
They're hours away from theirfamily.
They might get a complication.
You know they're there on theirown.
You know I've got a ton of awfulstories of people and you know
the wait lists.
Unfortunately they are huge andwe really need to address that
as well.
Like people need to be able toaccess, we can give them this
(42:19):
information, which is fantastic,but if they can't do anything
about it, like you know and whatthat actually does is, it
heightens anxiety because you'vegot to remember as well these
people are potentially have seenlots of family members have
cancer and they, you know.
So they already have that sortof heightened anxiety around
cancer.
Now they know they're at riskbut they're told they might have
to wait a couple of years toactually do something about it.
(42:41):
So they go on high riskscreening programs.
You know breast MRIs are notfun.
You know no MRIs fun.
But laying face down in a, youknow, in an MRI machine with a,
you know you know, so they haveto go through those and then
MRIs.
Of course they're oversensitive,they'll pick and if you're at
high risk they'll pick up everysingle little thing.
So people having constantbiopsies worrying.
(43:02):
You know, you've got all that.
Scans it, so you know it's.
I think if you look at apopulation level and lots of
people are talking about let'sjust give everyone genetic
testing, that's fantastic and Ican see how we will save lives.
But I would say to people I'mdown here in the coalface and
I'm talking to the people thatare struggling because our
health system isn't able to tosupport them once they have that
(43:24):
information yeah, we we'vespoken quite a bit about women
in the process and I'm justwondering what you think about
bringing more men into theconversation.
Matt (43:43):
Yeah, I guess, from a clinical point of view, or from
from the clinic, I think thatthere there are more women that
have testing than men, and thereare definitely men out there
who are at risk that are nothaving testing and I just I kind
of worry about them.
I think what can we do to sortof help or support them?
And I guess Inherited CancersAustralia is one of the things
(44:06):
that is helping.
But, yeah, what do you thinkabout that?
Sarah (44:09):
So, yeah, that brings us back to our name change and we,
yeah, we made that decision inAugust this year, and I mean
also, we made the decisionbefore that, obviously, but we
actually rebranded in August.
It wasn't a decision we tooklightly, but it was one that we
felt was really important forour organisation.
You know, as I say, genomicshas evolved in the last 15 years
(44:30):
and we had to evolve too.
When the organisation wasstarted, we really just knew
about BRCA1 and BRCA2, and wereally just thought they caused
an increased risk of breast andovarian cancer.
Now, you know, you fast forwardto today there are many more
mutations that we know thatcause an increased risk of
(44:50):
different cancers.
Breast and ovarian are alwaysgoing to be the ones that have
the highest increased risk.
Breast and ovarian are alwaysgoing to be the ones that have
the highest increased risk.
But we do now know that BRCA1and BRCA2 give men an increased
risk of prostate cancer, and soit's really important that men
(45:18):
not just get you know testingfor themselves and so they can
understand and have know morescreening around prostate cancer
, but you know that potentiallyfor their children and other
family members and we, that wasone of our huge.
You know big reasons.
There was two.
You know reasons we wanted tochange them.
One, we want to be moreinclusive and not just be pink
and about breast cancer.
But two, we want to bring meninto the conversation and,
generally speaking, a man's notgoing to come to a pink website
(45:38):
called pink hope, you know, andthat some will.
But you know, and it's funnybecause I said to someone the
other day, it's not like we'vesuddenly had this influx of men
because we've changed our name,but it's a step you know we've
had.
So we had.
We've had such positivefeedback about the name change
from our community.
But a couple of people havesaid this is so good because now
I can send your resources, sendyour website to my brother, to
(46:00):
my cousin you know whoever it isand it doesn't feel like I'm
sending them something pink, youknow.
They can actually see that it'svaluable.
Again, looking at the statsyesterday that Peter Muck was
showing me, I think about, inthe cascade testing, two-thirds
women, one-third men.
You know, and it shouldn't belike that, it's a 50-50, you
know.
So there is definitely work tobe done around encouraging men
(46:25):
to, particularly when they havea family member that they know
or you know they know thatthere's this mutation in the
family.
It's about, you know, gettingthem to understand their own
risk but also the value fortheir family members.
Matt (46:41):
One of the things that I love about Inherited Cancers
Australia is that you work veryclosely with one of my good
friends, laura Forrest, so Laurais a genetic counsellor.
She is also a previous podcastguest host on this podcast.
We had a great conversationtogether, but how important was
(47:04):
it for you or for yourorganisation to have that
genetic counselling input.
Sarah (47:13):
It's.
You know, it's invaluable,laura.
Laura and I have a a funnyhistory too, just like you, but
um, not long after I found outabout my mutation, laura
contacted me through um, thefamilial cancer center, and said
um, you know she was doing shedoes a lot of psychosocial
research into people withinherited cancer risk and asked
(47:36):
if I would help and I think Iwas looking at some emails the
other day.
It would have been around2012-2013 and so I was like sure
, happy to help.
And it's quite funny becauseback in back then, you know,
pre-covid, she just came over tomy house and we had a chat.
It was really nice and Lauraand I just stayed in touch.
I was always, you know, happyto help out, really liked her
(47:59):
and you know we got on well.
And then when I took over asCEO of Inherited Cancers
Australia, she called me andsaid I'd love to have a chat and
she just gave me a bit offeedback about what some of the
people, the patients you know,and just a bit of feedback to
help us guide, you know, oursort of next few years which was
(48:20):
great, you know, really honestfeedback, which is what we need,
um, and then we decided earlythis year we really needed to
start an official medicaladvisory committee.
So we unofficially had lots ofexperts that were always happy
to help us, and we really needto formalize, formalize this.
And I thought, right, who do Iwant as a chair?
(48:42):
And I said it has to be agenetic counselor.
I said this to my board becausethat's you know this that is
the most important part of ofwhat we're about.
So, um, I called Laura and I waslike, hey, and you know she's
busy, like for everyone and butshe, she jumped to the chart.
She was so, um, happy to helpand so we spent a couple of
(49:03):
months working out who we'dinvite.
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 ourfirst meeting she goes wow,
we've got some really incredible, you know smart, um, people
that are really understand, youknow, inherited cancer.
We wanted to choose.
You know, we've got a breastsurgeon and a plastic surgeon
(49:25):
and a gyneon and now we'veactually got a
gastroenterologist and so it's areally you know, a menopause
expert.
We've really tried to to coverand, you know, and hopefully
we'll grow in the future, soyou're having Laura there, but
Laura's even you know beforethat she's always there.
I send her lots of emails.
She's very helpful, patient, um, and yeah, she's been really,
(49:47):
really supportive.
So, yeah, look, our connectionwith genetic counselors is so
important and I and we've reallybuilt that over the last few
years with the clinical geneticservices in Australia.
I know many of them will tellpatients about us because they
know that we can help them withthat 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 thistalk with you and to learn a bit
more about Inherited CancersAustralia.
And yeah, I wish you and theorganisation 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 specialepisode, check out
podcastthonorg to find out abouthundreds of other charities
(50:49):
being featured by some amazingother podcasts.
You
Hi, my name is Matt Burgess and I am the host of
Demystifying Genetics.
This is a special episode ofDemystifying Genetics, as we are
participating in this thirdedition of Podcast Thon.
For one week, more than athousand podcasts will highlight
a charity of their choice, andtoday I am excited to be
(00:21):
speaking with Sarah Powell, theCEO of Inherited Cancers,
australia.
Hi, sarah, and welcome toDemystifying Genetics.
Sarah (00:35):
Hi, Matt, thank you for having me.
Matt (00:37):
Now, this is a really exciting week in podcasting.
There's a thing calledPodcastthon, and podcasts from
all over the world arehighlighting various charities,
and the charity that I thoughtthat I would like to sort of
become involved with is acharity that you work at.
So, yeah, inherited Cancers.
(01:01):
How, yeah, tell me aboutInherited Cancers.
I don't even know where tostart.
How did you get involved?
What do you do?
What is it?
Sarah (01:09):
Wow.
So that's a big story.
So Inherited Cancers Australia.
We rebranded from Pink Hope inAugust this year and I'll come
to that a little bit later.
But how I got involved was dueto my own personal history.
So when I was 29 years old Iwas diagnosed with triple
(01:29):
negative breast cancer, and thiswas in 2006.
So quite a shock.
No family history Didn't getgenetic testing because at that
time everyone asked if I had afamily history of breast or
ovarian cancer, which I don't,so genetic testing was never
offered.
Got through treatment, fellpregnant a few weeks after
(01:50):
finishing my treatment.
Matt (01:51):
Oh, wow.
Sarah (01:52):
Yeah, a bit of a whirlwind, particularly as I was
told that chemo would mostlikely, you know, affect my
fertility.
We even froze embryos before Istarted chemo just, you know, as
a sort of insurance plan, andfell pregnant naturally, had my
(02:12):
baby and it actually was quite anice way to end a pretty crappy
year.
Let's be honest, you know andit was, you know, my focus was
on my baby and I had a daughterand when she was about a year,
18 months old, it didn't sitright that I was 29 having
breast cancer.
You know, stats would sayprobably less than 5% of people
you know would get breast cancerunder 30.
(02:33):
So I did a little bit ofresearch and I started to read
about the BRCA, or the BRCAmutations, and how they're much
more prevalent in AshkenaziJewish people and Ashkenazi just
means Jewish people fromEastern Europe and my dad's
family are Jewish from Lithuaniaand you know the bells start
(02:54):
ringing and you're like, oh,hold on a minute.
So I actually and back then youcould self-refer, it's quite
different now I just called upPeter Mac in Melbourne and said,
look, this has happened to me.
You know, I had triple negativebreast cancer at 29 and I have
Ashkenazi, jewish ancestry, Ithink.
For them they were probablylike yep.
(03:14):
So they said you know, theysent me the forms you do, your
pedigree or your family historyof you know what cancers.
And as it turns out, when Istarted digging around my
grandma so that my dad's familyare very small, my dad, dad's
sister, died very young from MSand his brother married quite
(03:35):
late in life, so never had hisown children, so I don't have
cousins and my uncle is the onlyliving relative.
My dad passed away when I wasyounger so I asked him how.
I said how did you know grandmadie?
And I think you know back inthat 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 atthat point and she said, oh, I
(03:57):
don't know, I think it couldhave been uterine cancer, could
have been ovarian, and I got adeath certificate and of course
your death certificate reallyonly shows what you die of, not
you know, and that wasn'tactually her cause of death.
So I really didn't haveanything to go on.
But then someone rememberedthat perhaps her sister had
breast cancer.
So I gave all this to Peter Macand they invited me in very
quickly.
Back then the clinics weren'tperhaps as overwhelmed or you
(04:21):
know as they are now, so wentstraight in.
Uh, they counseled me, we didthe test and they said, look, it
could take four months for aresult to come back.
And they called me after abouttwo months and said you know,
we've got your result, you needto come in.
And I think I knew at thatpoint you know being called in
early um and I suspect, beingJewish as well, you know they.
(04:42):
There are certain types of BRCAmutations that they call them
the Jewish founder mutations.
And that's the one I have, soit's probably a little bit
easier to identify.
But, yeah, sure enough.
So I had a BRCA1 mutation andfor me it just changed
everything.
You know, I feel like I breezedthrough my breast cancer
diagnosis, and having breastcancer is not or any cancer is
(05:03):
not easy.
Matt (05:06):
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 theyou know the last thing on your
mind did you find a lump, andwhat was the conversation like
with the doctor and how long didit take to actually get that
diagnosis confirmed?
Sarah (05:27):
Yeah, look, when I think back, I was pretty lucky because
you know, I do hear of womenthat perhaps get sort of bobbed
off, particularly when they'reyounger.
I was in Thailand on holiday andI feel really fortunate that my
tumour was almost like rightright under my, so far around my
breast.
It was almost under my armpit.
So you know, when you'rewashing under your arms, I mean,
(05:49):
oh, that's a funny little lump,um, and I was actually studying
biotechnology at uni at thattime and I, you know, I decided
to go back as a mature agestudent and study, and we've
been doing a lot about cancerand you know what, you know how
they um, you know it's quitehard and you know it's got
irregular, uh, feels irregular,and so I sort of had all that in
(06:09):
my mind.
But then also what I thoughtI'm 29, like you know, this is
silly, so, but it's the back ofmy mind.
But when I got home I went tosee my GP and she, you know, do
you have a family history?
You're very young, unlikely tobe anything, but I'm going to
send you for an ultrasound.
So I went for the ultrasoundand the guy doing it said to me
have you been sick recently andI said no, and he said you've
(06:31):
got a lot of enlarged lymphnodes in your breast as well as
this one.
He said you need to go back toyour doctor.
So I went back to the GP andshe was like, okay, I'll refer
you to a breast clinic.
So I went there and theybiopsied it that day and the
radiographer and she it's funnyand she told me afterwards she
said I knew it was cancer.
She said I see enough.
(06:51):
But she said I obviouslycouldn't say that until we had
the pathology.
But she said to me I want tobook appointment for tomorrow.
So I came back the next day andand at this point my um, my
husband at the time, he wasreally like this is nothing, so
he didn't come to a singleappointment with me, even to the
one where they told me.
But yeah, I turned up and theysaid look, we're all sorry, it's
(07:11):
breast cancer.
It's an aggressive, you knowgrade three, triple negative
breast cancer.
But it's very small.
It was 1.2 centimeters.
So they said this is reallypositive.
We found it very, very early.
So they said this is reallypositive.
We found it very, very early.
So at that point, because Ididn't know about my mutation.
I just had a lumpectomy and wegot clear margins.
So that was all great.
But I did start.
(07:34):
I went on about, I'm trying tothink, three or four months of
chemo, different types of chemo,and because of my age they said
look, we can do what they calldose stents, do it every two
weeks.
Um, because you're a bityounger you can sort of manage
that and you know I managed itrelatively well.
Fair bit of joint pain.
I ended up with neuropathy inmy hands and arms, a bit um, a
(07:56):
little bit of nausea, but youknow it was managed reasonably
well.
Um, and then radiotherapy for aI 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 meand they went uh, you're not
here and I was like what and um,but you know, and actually it's
(08:17):
funny because back then triplenegative had no adjuvant, there
was nothing you could takeafterwards, and I remember going
to my last radiotherapyappointment and then just
sitting in the car and cryingbecause 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 thesepeople around you and it felt
really overwhelming because itwas literally like good luck.
(08:38):
Um, my oncologist said to meplease do not get pregnant in
the next two years.
You know triple negative oftenbecause you know within next two
years, you know triple negativeoften because you know within
those two years.
He said, I don't want to betreating you pregnant or, you
know, with a young child.
So um, didn't listen to thatadvice 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 itall turned out okay.
(09:00):
Um, I joked.
I went into his office and Ihad to tell him and I felt like
a teenager telling his dad I'mpregnant, like, oh, I'm pregnant
, and he just said, well, it iswhat you know, it is what it is,
and so so, yeah, so off I wentand so, yeah, I feel really
fortunate, everyone took it veryseriously, like, well, they,
they, you know there was alwaysthat I'm sure it's nothing, but
(09:21):
we'll keep, you know, doing thetests.
So I was lucky in that way.
Matt (09:24):
Okay and you said, sort of in the process of genetic
counselling you were gatheringinformation about your family
and you know your family's smalland some people have passed
away.
I can detect a slight Englishaccent, but you were living in
Australia.
Were you family like when yousaid you were talking to your
(09:47):
uncle?
Was he overseas and how didthat sort of complicate things
being sort of really spread out?
Sarah (09:55):
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 myselfand my brother as sort of.
You know he uses email and so,and we've always stayed in touch
in that way.
I think for him he sees myselfand my brother as sort of you
know he's only living sort ofyou know, biological family, I
suppose, because, like I said,he has children, but they, you
(10:16):
know, by marriage.
So he was, so we always stayedin contact.
So he, you know, when I saidyou know, know, I'm
investigating this, he, he gaveme as much information as he
could.
Um, he's never had the testactually, 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.
(10:37):
So he's sort of I mean, youknow 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 youidentify as like?
Are you Jewish or?
Sarah (11:02):
yeah, that's an interesting story too.
So to be Jewish, your mum hasto be well, they have to convert
right.
And my dad was, uh, notorthodox in any way.
His, his parents were, so, um,he committed the sort of
ultimate Jewish crime bymarrying a non-Jewish woman and
he, he actually got sort ofostracized really from his
parents.
(11:22):
His dad died before I was born,um, but, um, my grandma was
actually the most incrediblegrandma, so for me, my, my
siblings, like she was amazing,uh, but she, her, and my mum
just never got on because, youknow, it's, it's, it was very
important to her that my dadmarried 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 notJewish, um, I guess, yeah uh,
yeah, it's just interestingbecause, yeah, like in genetics,
we obviously, uh like whenwe're thinking of genetic
testing, certain mutations aremore common in people from
(12:04):
different backgrounds.
And quite often we sort of askyou know what's your ethnic
background or where do yourfamily come from?
But yeah, with the Jewishness,yeah, you inherit or you become
Jewish from your mum and from agenetics point of view, we don't
really we're not really askingare you Jewish?
But yeah, it's just ainteresting sort of cultural
(12:25):
thing.
Sarah (12:26):
It is, and you know, as you would know.
You know, if we say generalpopulation, about one in 400
people would have a geneticmutation causing cancer.
In Ashkenazi Jewish people it'sabout one in 40.
It's significantly higher.
I know that the NHS in the UKnow are allowing anyone with and
it doesn't have to be like theEastern Europe anyone with
(12:46):
Jewish ancestry I think back toyour grandfather can now get
access genetic testing, which isfantastic.
Matt (12:53):
And was it after you received your genetic diagnosis
that you became involved withPink Hope?
Sarah (12:59):
Yeah.
So you know, like I said, forme when I had my breast cancer
diagnosis, I didn't really seekmuch support in terms of, you
know, patient supportorganizations or that kind of
thing.
I really feel people in thegeneral population friends,
family they understand cancer.
So I felt well supported,people knew what I was going
through.
But I found the having agenetic mutation.
(13:22):
People don't really understandthat.
You know we see this a lot ininherited cancers australia that
because people aren't sick, youknow, so they're making these
huge life-changing decisionslike removing their breasts,
removing their ovaries, butthey're not actually sick and a
lot of people, particularlytheir friends and family,
struggle to understand that.
Um, and I was so overwhelmedwith the amount of decisions to
(13:46):
make, so, again, when I hadcancer, there wasn't really any
decisions.
This is what's going to happen.
You're going to have yoursurgery, you're going to have
chemo, you're going to have thistreatment.
But when you have a geneticmutation, you have to make those
decisions and you have todecide when and and you know,
and people can only tell you theaverage risks.
And we're getting I think we'regetting so much better now.
You know, back in when I had mytesting in 2008, it was kind of
(14:08):
these are the risks for allpeople.
Now we can get a little bitmore specific with people around
their risks, but it's stilljust a percentage.
No one really knows.
You know, no one or no one cangive you an exact risk and you
have to decide what works foryou.
But the other side of it for methat I really struggle with is
my cancer no longer ended withme.
(14:29):
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'mlike I could have part, and now
I potentially have passed thison to her and it just felt like
it hadn't ended with me anymore.
And so, yeah, I really neededsupport, and it's that peer
support.
(14:49):
I needed to speak to otherpeople that understood.
Um, so, yeah, I googled, as youdo, and I found Pink Hope, and
this was, you know, a long, longtime ago, and Pink Hope was
very much in its infancy, Ithink at that stage they were
under the auspice of thenational breast cancer
foundation, so not actually asort of standalone charity, and
(15:13):
back then there was no Facebook,so we had this online forum and
I met a couple of people, oneof them who is actually going
out with me tonight, so we'vestayed friends that long.
You know she she had a verysimilar situation got diagnosed
with breast cancer, triplenegative at 30 and she's
actually quite unusual.
She has BRCA1 and BRCA2 veryrare um but she, um, we just
(15:34):
clicked and we've stayed friendsbecause she really understood
and I just remember thinkingthis is an organization I want
to support because potentiallymy children, you know, might be
seeking support in the future.
So I got very involved and, youknow, became friends with the
founder and said I'll dowhatever I can.
(15:56):
So I used to sort of speak atevents for them, anything they
wanted.
But I ended up starting a funrun here in Melbourne called Run
for Hope.
It ran, it went for six yearsand over those six years we
raised around a hundred thousanddollars for Pink Hope.
So yeah, I was heavily, heavilyinvolved and really passionate
(16:17):
about and understanding that theneeds of people with inherited
cancer risk is very different tothe 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 theright word like friction that I
sometimes see in, like theinherited cancer community
between survivors and previvors.
And I guess you know, forpeople that don't or haven't
heard the word before, aprevivor is somebody who has
(16:50):
tested positive to a gene faultthat predisposes to cancer, but
they haven't actually had cancerthemselves.
But I think you're right, sortof the needs of people that have
had cancer are very differentfrom the needs of people who are
at risk of cancer, even thoughthe cause is exactly the same
and they could even be in thesame family it's a really
(17:13):
interesting um thing that we seea 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 outshe has a mutation.
So then another sister test,also, has the mutation, but then
takes undertakes, risk reducingsurgery.
But exactly that, that sisterthat didn't get cancer sort of
feels guilty that they had theoption not to, you know, not to
(17:41):
get cancer.
And then you might get anothersister that tests negative and
they feel guilty because theydon't even have to face any of
it.
So there's so much guilt.
And then you've got people thatare guilt, you know the guilt,
like I have, passing it on to mychildren.
So yeah, it's a big challengein this community and um, I just
, you know, humans are so hard,we're so hard on ourselves
(18:01):
because none of this is ourfault you know, yeah, it's where
you're born.
Matt (18:05):
Guilt is such an interesting emotion.
It's not always rational, butyou know people definitely feel
it.
But yeah, I'm glad that yousort of mentioned that Thinking
of your daughter.
How did you go about thinkingabout discussing this with a
(18:28):
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 sortof approach that?
Sarah (18:41):
um.
So you know, and people ask,ask us about that a lot
obviously in our organization intalking to children, and you
know it, you know your child.
It's interesting because weit's a topic that's talked about
a lot in the inherited cancerscommunities, particularly on our
online support groups.
How do we talk to childrenabout this?
(19:01):
And I first want to start bysaying I'm not a genetic
counsellor and I don't give anymedical advice.
But you know, I think we allknow our children and we know
how, you know how they react tothings and when is the best time
to talk to them, I think in anage-appropriate way.
(19:21):
You know, obviously it changesfrom when they're, say, 13 to
when they might be 18.
Um, I see very different umways people handle it.
So, for example, my daughter'salways been fairly aware because
, um, you know, particularly thephone run, for example,
(19:43):
particularly with the phone run,my daughter was very involved
with that and so of course, shewas curious about what are we
raising money for?
What is this about?
So she always was aware and Ispoke 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 inheritedthis you'll have more.
(20:05):
You know you'll have thatknowledge and you know you'll be
well looked after.
I know other people that don'thaven't.
Even their children have noidea, you know, and they're
waiting until they're much older.
So there's no right or wrongway and you have to work out
what's best for you.
We are next, early next year,we're publishing a huge amount
(20:26):
of resources on talking tochildren, talking to other
family members, because that'schallenging too for a lot of
families.
So hopefully that sort ofcommunication aspect of
inherited cancer risk, we'rereally trying to cover that
because it's really important.
But my daughter, she'll turn 17in two weeks, so she is getting
(20:47):
to that age where, um she isable to be tested.
Um, a lot of genetic counselorsoften say well, you don't have
to do it at 18 um, you know it'sunlikely that at 18 they're
going to get breast cancer or,you know, be at risk.
However, they always talk about10 years younger than your
youngest relative who wasdiagnosed.
(21:09):
So, unfortunately for Michaela,my daughter, um, because I was
diagnosed at 29, she probablydoesn't have as much wriggle
room, I suppose, as as otherpeople, um, so, yeah, it's
something I'll be tackling nextyear and working out the best
way to to talk that through withher.
Matt (21:27):
But she is aware In the clinic in the hospitals, when
we're providing geneticcounselling or thinking back in
the past, it's like there wasthis magic time, um.
You know, I still rememberbeing in clinic.
I think it was a Tuesdayafternoon when I found out that
Angelina Jolie had a BRCAmutation, and it's kind of like
(21:52):
pre that time and post that time, um.
So I think from that moment umfor 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
(22:13):
had to sort of explain oreducate other people and then,
when Angelina came out, did sortof people's knowledge change or
how you sort of um navigatemedicine?
Did that change?
Sarah (22:29):
it's funny we call us saint angelina jolie.
I, you know it and it actuallyI know for for pink hope.
It really helped them as anorganization that was perhaps
struggling a bit to um, gain thefunding and and you know
support you know to to continueas an organization.
It it really helped for mepersonally.
I loved it because you know Iused to say, well, I just have
(22:51):
that thing Angelina Jolie has.
You know I used to joke, oh,you know, if I had to share
anything with Angelina, I wishit would be Brad and not Bracko.
But yeah, but yeah, I found itreally helpful.
I remember, because I was in alot of groups that people were
almost like, oh, but you knowwhy does she get attention, blah
, blah, and I'm just like Ithink this is a good thing
(23:13):
because now it helps peopleunderstand a little bit more
about you know what it means tocarry inherited cancer risk and
the decisions you have to makewhen you're not actually sick at
that point.
So, um, no, I, I thought it wasfantastic and it's funny.
Actually, I was at a meeting atPeter Mac yesterday and we were
looking at some stats and thatthey had around the increases in
(23:35):
genetic testing and um, therewas you know we.
We sort of looked at that deepduring 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 holdon.
Maybe I have a genetic mutation, yeah, so you know, I I think
(24:00):
it's.
Matt (24:00):
It's a really good thingene is transforming
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data management and reporting.
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patient care.
You can see it in action byrequesting a free demonstration
(24:23):
at TracGenecom, and foracademics and university
students, trackgene's pedigreedrawing tool is available at no
cost.
Explore the possibilities attrackgenecom that's
T-R-A-K-G-E-N-E dot com.
(24:51):
When we kind of think about howcharities in the community sort
of work with public health andsort of that overlap, you know a
lot of genetic testing andgenetic counselling happens in
the public system.
There are sort of increasinglymore private services and
private options becomingavailable, but mainly genetic
counselling and genetic testingis in the public sort of system
(25:13):
and unfortunately there's alimited amount of money and you
know budgets and the publicsystem can't do everything and
that's where sort of charitiesstep in and that's where sort of
charities step in.
How do you see the role of howInherited Cancers Australia
(25:34):
works with the public healthsystem and sort of what sort of
services are you fulfilling thatis not happening in the public
system.
Sarah (25:44):
Yeah, we do.
I feel like we fill that gapbetween the public system.
Yeah, we do.
I feel like we fill that gapbetween the health system, the
public health system and thepatient, because you know we
provide support, education,advocacy.
You know there are threepillars and it's the reason why
most patient organisations existis because we can provide peer
support and that isn't the roleof the public system.
(26:07):
And particularly when it comesto inherited cancer risk, people
need that peer support.
They really do.
They need to connect with otherpeople that understand they've
had to make the same decisions.
You know they just want to chatwith someone.
That that really gets it.
You know, we started a peersupport mentor program this year
where we, you know, trained 10peer support mentors and we only
(26:28):
launched it in October andwe've already had over 10 people
, you know, signed up and wesort of saw it initially as this
an ongoing relationship.
But a couple of the mentorshave said they just wanted to
have a chat with someone andthen that's it.
You know they.
But we've got an online supportgroup, but sometimes you just
want to have a conversation withsomeone.
So you know that part of whatwe do is really important, I
(26:48):
think the education part it wasreally important too because, um
, our resources um are made youknow.
Then we have a way ofpresenting information that is,
um we we call it so like aneducated best friend, like we're
not trying to ram informationdown people's throats, we're
trying to present it in a waythat empowers them to make
(27:10):
informed decisions.
So everything we do isevidence-based, but we try and
make it useful, like decisionaids or checklists.
You're going to see a breastsurgeon to talk about having
mistakes and here's somequestions you might want to ask.
So that's the kind of you know,the education that we and
information we provide that thepublic health system doesn't.
But the reality is, when itcomes to something like, um,
(27:31):
genetic testing and and havinginherited cancer, which you
don't really have a specialist,because once you've got your
result from your geneticcounselor, you know they cannot
give that person, they don'thave the capacity and nor should
it really be their job toconstantly be checking in on
them.
Um, and we're accessible 24 7,you know we.
We get dms emails.
You know phone calls uh, notthat we get phone calls 24 7.
(27:54):
We try not to you know, but butyou know that's we're here all
the time and you know.
So I feel like we take a lot ofpressure off the system because
I'm sure we've filled a lot ofthe calls and emails that you
know that would go to a geneticcounselling 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
(28:16):
professionals and when peoplecome to us and have something
really medical, we say you know,you, you do need to go and see
a doctor or your geneticcounsellor.
But yeah, we're really takingthat pressure off and for for
many years that's been fine.
But this increase in genetictesting is becoming unmanageable
, you know.
But there's five of us in theteam and I think we really need
to be recognised as a reallyintegral part of of the, the
(28:40):
genetic counselling and thatperson's inherited cancer risk
experience to help them becauseit's ongoing, right, it's, it's.
You know it never ends.
When you have an inheritedcancer risk, you are going to
spend your life managing thatrisk and potentially then your
children.
You know I describe it like aroller coaster.
You know I was up here, had mymastectomy back down again,
(29:04):
feeling good.
Now you've got to take yourovaries out back up managing,
you know, medical or surgicalmenopause, 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 ofmanagement which our health
system doesn't have the capacityto do.
Matt (29:23):
Hmm, I find in clinic that when I have an appointment with
a family or you know, a coupleor a person who's thinking of
genetic testing, it's likethey've already made up their
mind that they want to have thetest.
And I actually quite like whenpeople present and this doesn't
happen.
(29:43):
Very often they say Matt,actually I don't know if I want
the test, I'm here to justgather some information and and
to really talk over the pros andcons of testing, but I don't
know if testing's right for me.
That sort of conversation isactually quite rare.
I'm wondering if those peopleare actually having those
(30:05):
conversations with you andwhether the support group is
actually um sort of providingthat service for people yeah,
absolutely.
Sarah (30:16):
We have over 2,800 people on our support groups and you
know there were manyconversations like that.
You know I, okay, I.
You know someone in my familyhas just found out they have a,
a gene fault.
You know I'm thinking abouttesting, you know what you know,
so there's definitely thataspect of it.
But I honestly think, too,exactly like what you said there
(30:41):
was, I think, a lot of geneticcounselors time is spent
pre-counseling and most of thetime those people made the
decision.
I know that, obviously, theinsurance discrimination issues
we had were a conversation thatgenetic counsellors have to have
with people and highlight thatissue.
Now, the legislation hasn'tbeen passed yet, but we're all
(31:02):
fingers crossed, hopefully bythe next election or just after,
but that will happen and thatwill take that conversation away
.
So you know that isn't so.
You know, I actually think it'spost-testing that people really
need the support and you knowthat I think that's where the
the time with the counsellors umshould be spent more on because
(31:23):
, like you say, people are, youknow they're pretty smart, they
mostly of these days have donetheir research before they come
to you.
It's not like, you know,there's so much more information
there, um.
So, absolutely.
We just had a look at the statsand we had um 55 000 people
accessed our website this year.
It's.
You know individual people didwant you know different ip
(31:44):
addresses.
I guess, and I think it was115,000 pages were viewed.
So you know, people are usingour website, which is fantastic
to to get information.
We have lots there about whatis genetic testing.
When should you go and see?
You know we have everythingthere.
So I you know.
I really do think that we aresupporting the healthcare system
.
We just need the government torecognize that and fund us for
(32:07):
it.
Matt (32:07):
Yes, it's so interesting because, um, you know,
everything is evolving andeverything changes and sort of
um, the genetic counselling thatyou experienced, um, back in
the day, is quite different towhat's happening now.
And I think you're right.
That sort of the post-testcounselling is sort of the main
(32:30):
thing or the more importantthing.
And in medicine we're seeingthis thing called mainstreaming,
where genetic testing is beingordered more and more by lots of
different types ofprofessionals.
I think when it started I stillremember I think it was about
10 years ago we started talkingabout mainstreaming and it
(32:53):
sounded amazing.
It's like oh great, we're sooverwhelmed.
And then now people are goingto like start ordering their own
tests.
And it's kind of funny because Ithink sometimes some of the
medical professionals areordering the tests themselves,
but I thought that they wouldlove it.
And I think that in myexperience a lot of them are
(33:15):
like oh, you know, genetics didsuch a good job.
I wish you know, like it couldjust stay with genetics, because
I like doing my thing and youknow, I feel like I'm taking on
another thing.
What's been your sort ofexperience 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 gota fat, you know they hit the
criteria, they, you know thatthey they should, um, you know,
be sent for the test and youknow they just worries me as
long as they're getting thecounseling afterwards right,
because that's what you guys dobest.
So you know, I know in a lot ofum bigger hospitals, well, they
(33:56):
have a genetic counselor there,so that if that person is, you
know, that doesn't happeneverywhere we have such an
inconsistent health system.
Um, don't even get me startedon the fact that.
You know I come from a countrythat has a much bigger
population, but we have onehealth system.
I don't understand whyAustralia has to have the states
and territories run their ownhealth.
It doesn't make it'smind-boggling to me, and so that
(34:18):
that you know it can do, andeven within a state you know you
can have different experiences.
I think mainstream is good, aslong as the person is then
either referred into a clinicalgenetic service or receives some
decent genetic counselingafterwards.
Um, I think the thing with us isright.
(34:39):
We deal the healthprofessionals that I have like
on our medical advisorycommittee and the ones that we
work with closely are ones thatare very supportive and
understanding of inheritedcancer risk.
So I think they're happy to dothat, you know, and happy to
learn and understand about it.
You know genetics is a veryunderstand about it and you know
genetics is a very complex area.
Hence you guys have to gothrough a lot of training.
(35:01):
So you know, and if you thinkeven down to primary health I
don't even know, you know it'slike one hour or so it's.
So it's something ridiculousthat they don't get a lot of
training on it.
Um.
So I think if australia isreally um serious about sort of
bringing genomics into, you know, into our health care system in
(35:23):
a really sustainable andequitable way, there's got to be
a lot more training,particularly primary health.
I think that's where um there'sit's lacking and so many gps
and and nurses don't reallyunderstand 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
(35:44):
big shifts in workforce and howwe handle it.
Matt (35:47):
Yeah, because obviously primary health care is sort of
the main, so it's like the firstplace that we usually get
advice about medicine and mostgenetics is in tertiary health
care, so sort of you know, oneor two sort of steps removed.
I think you raise a good pointabout, um, the complexity of
(36:09):
health care in australia.
You know, like, um, mostgenetics is based in the public
health system, which is isstate-based and the money for
testing comes from the state,but then there's a federal
government that also has ahealth department that also sort
of does policy on genetictesting and that sort of thing.
So yeah, it is complicated, butI know one of the things that
(36:33):
they're sort of talking about ona federal level is the idea of
providing genetic testing to allwomen, or offering genetic
testing to all women who havebeen diagnosed with breast
cancer, and on one hand I thinkthat's a great thing because
that can really help with theirtreatment and you know that can
(36:56):
help with prognosis and maybe itcan help with cascade testing
in the family and preventingbreast cancers.
But then on the other, I kindof worry about, uh, the
resources that we have in placeand 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 forpeople with brachyper 1 and 2
mutations.
So, um, there are certainmedications and um one
particular has.
Uh, every time it sort of goesto get pbs listed.
(37:35):
They sort of have to keepexpanding that criteria for that
sort of you know, so it wasearly breast cancer.
It went to metastatic and MSACmade the recommendation that
let's future-proof this.
Let's instead of keep changingthe criteria, let's say, well,
all women with breast cancershould get genetic testing.
Now, as a person and as anorganisation, it's fantastic.
(37:55):
So I published a paper thisyear called Magenta, a
patient-authored manuscript, andit was around people's
understanding, awareness andaccess to genetic testing and
counselling when they werediagnosed with breast cancer.
Covered nine countries in theworld, so very broad countries
too, so very differentexperiences in different
(38:15):
countries.
We're actually quite fortunatein Australia if you compare us
to sort of low and middle incomecountries, but always more to
do.
So I was delighted.
This is what Magenta was allabout.
You know all women with breastcancer should be offered.
We know that family history andthe criteria doesn't pick up
all people and Peter Mackactually did a study called MAG,
(38:36):
called magic, where they Ithink it was about 500 women.
They did over a period of time,so they all women with breast
cancer.
They gave them genetic oroffered them genetic testing and
counseling and what they foundis 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 itwas a ridiculous I think I can't
(39:01):
remember the numbers but 60 or70 percent or even higher, had
their treatment pathway changedwith that knowledge right.
So it is incredibly important.
If I think back to my ownexperience, I wouldn't have had
a lumpectomy had I known I had abrachymestation.
I would have had a mastectomyat the time.
And the the thing for me is Iwouldn't have had a lumpectomy
had I known I had abrachymesthesia.
(39:21):
I would have had a mastectomyat the time.
And the thing for me is Iwouldn't have had radiation.
My reconstruction after mymastectomy was quite complicated
because I'd had radiation.
I had to have my whole latmuscle removed from my back as
part of my reconstructionbecause my chest wall
potentially you know it damagesit, you know it makes it weaker
I, I suppose and not strongenough to hold an implant.
So you know, for me it wouldhave changed a lot.
(39:41):
So you know, I do think it'sreally important.
Now, exactly like what you said,I crunched the numbers the
other day with my colleagueRobin.
She's our programs and advocacymanager, she's we call her our
data nerd.
She just loves numbers and andso we went okay.
So there's, you know this manypeople.
Let's just go on the 24 numbers.
I think it's about 21,000 womenprojected to get breast cancer.
(40:05):
Um, so, you know, I think andI'm only using the magic numbers
, and you know, obviously that'sone cohort in one part of
melbourne, but you know, this isthe best we've got, I sort of
going on the numbers they foundin 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 BRCAmutation.
(40:25):
But it's the cascade testing.
And you know, I think there'ssome studies that say, on
average, 3.3 of your familymembers will go on and do a
cascade test.
Now, it's 50-50, right, sothey're not all going to be
positive, but those people,those people that are looking
into it, will come to us evenwhile they're thinking about it
or while they're waiting fortheir appointment or while
(40:47):
they're waiting for their result.
So the impact on us as asupport organisation is going to
be huge, and this is what we'retalking to the government about
.
Fantastic decision.
How are you going to help thesepeople?
Because they, they're the onesthat have to make huge,
life-changing decisions.
I think you know, having talkedto some of the clinical
services, the the women that umare diagnosed with breast cancer
(41:11):
.
Like you said, they'll probablyget mainstreamed right, so
that's how they'll do their test.
But it's their family membersand and that's like we say.
That's where the the hugeimpact will hit the system.
Another point as well, like Ialways make, is on average,
women are waiting at least 18months to get a prophylactic or
risk-reducing mastectomy inaustralia, and we know women are
(41:36):
getting breast cancer whilethey're on the wait lists.
So we know women that accesstheir super, they borrow money
because they don't want to waitin the public system.
You know I've spoken to womenthat had their surgery cancelled
twice, once on the actual day.
You know when they're ready togo in.
I speak to people that you knowthey have to travel miles.
If you live regionally, they'llhave to go to a you know a big
(41:57):
city.
They're hours away from theirfamily.
They might get a complication.
You know they're there on theirown.
You know I've got a ton of awfulstories of people and you know
the wait lists.
Unfortunately they are huge andwe really need to address that
as well.
Like people need to be able toaccess, we can give them this
(42:19):
information, which is fantastic,but if they can't do anything
about it, like you know and whatthat actually does is, it
heightens anxiety because you'vegot to remember as well these
people are potentially have seenlots of family members have
cancer and they, you know.
So they already have that sortof heightened anxiety around
cancer.
Now they know they're at riskbut they're told they might have
to wait a couple of years toactually do something about it.
(42:41):
So they go on high riskscreening programs.
You know breast MRIs are notfun.
You know no MRIs fun.
But laying face down in a, youknow, in an MRI machine with a,
you know you know, so they haveto go through those and then
MRIs.
Of course they're oversensitive,they'll pick and if you're at
high risk they'll pick up everysingle little thing.
So people having constantbiopsies worrying.
(43:02):
You know, you've got all that.
Scans it, so you know it's.
I think if you look at apopulation level and lots of
people are talking about let'sjust give everyone genetic
testing, that's fantastic and Ican see how we will save lives.
But I would say to people I'mdown here in the coalface and
I'm talking to the people thatare struggling because our
health system isn't able to tosupport them once they have that
(43:24):
information yeah, we we'vespoken quite a bit about women
in the process and I'm justwondering what you think about
bringing more men into theconversation.
Matt (43:43):
Yeah, I guess, from a clinical point of view, or from
from the clinic, I think thatthere there are more women that
have testing than men, and thereare definitely men out there
who are at risk that are nothaving testing and I just I kind
of worry about them.
I think what can we do to sortof help or support them?
And I guess Inherited CancersAustralia is one of the things
(44:06):
that is helping.
But, yeah, what do you thinkabout that?
Sarah (44:09):
So, yeah, that brings us back to our name change and we,
yeah, we made that decision inAugust this year, and I mean
also, we made the decisionbefore that, obviously, but we
actually rebranded in August.
It wasn't a decision we tooklightly, but it was one that we
felt was really important forour organisation.
You know, as I say, genomicshas evolved in the last 15 years
(44:30):
and we had to evolve too.
When the organisation wasstarted, we really just knew
about BRCA1 and BRCA2, and wereally just thought they caused
an increased risk of breast andovarian cancer.
Now, you know, you fast forwardto today there are many more
mutations that we know thatcause an increased risk of
(44:50):
different cancers.
Breast and ovarian are alwaysgoing to be the ones that have
the highest increased risk.
Breast and ovarian are alwaysgoing to be the ones that have
the highest increased risk.
But we do now know that BRCA1and BRCA2 give men an increased
risk of prostate cancer, and soit's really important that men
(45:18):
not just get you know testingfor themselves and so they can
understand and have know morescreening around prostate cancer
, but you know that potentiallyfor their children and other
family members and we, that wasone of our huge.
You know big reasons.
There was two.
You know reasons we wanted tochange them.
One, we want to be moreinclusive and not just be pink
and about breast cancer.
But two, we want to bring meninto the conversation and,
generally speaking, a man's notgoing to come to a pink website
(45:38):
called pink hope, you know, andthat some will.
But you know, and it's funnybecause I said to someone the
other day, it's not like we'vesuddenly had this influx of men
because we've changed our name,but it's a step you know we've
had.
So we had.
We've had such positivefeedback about the name change
from our community.
But a couple of people havesaid this is so good because now
I can send your resources, sendyour website to my brother, to
(46:00):
my cousin you know whoever it isand it doesn't feel like I'm
sending them something pink, youknow.
They can actually see that it'svaluable.
Again, looking at the statsyesterday that Peter Muck was
showing me, I think about, inthe cascade testing, two-thirds
women, one-third men.
You know, and it shouldn't belike that, it's a 50-50, you
know.
So there is definitely work tobe done around encouraging men
(46:25):
to, particularly when they havea family member that they know
or you know they know thatthere's this mutation in the
family.
It's about, you know, gettingthem to understand their own
risk but also the value fortheir family members.
Matt (46:41):
One of the things that I love about Inherited Cancers
Australia is that you work veryclosely with one of my good
friends, laura Forrest, so Laurais a genetic counsellor.
She is also a previous podcastguest host on this podcast.
We had a great conversationtogether, but how important was
(47:04):
it for you or for yourorganisation to have that
genetic counselling input.
Sarah (47:13):
It's.
You know, it's invaluable,laura.
Laura and I have a a funnyhistory too, just like you, but
um, not long after I found outabout my mutation, laura
contacted me through um, thefamilial cancer center, and said
um, you know she was doing shedoes a lot of psychosocial
research into people withinherited cancer risk and asked
(47:36):
if I would help and I think Iwas looking at some emails the
other day.
It would have been around2012-2013 and so I was like sure
, happy to help.
And it's quite funny becauseback in back then, you know,
pre-covid, she just came over tomy house and we had a chat.
It was really nice and Lauraand I just stayed in touch.
I was always, you know, happyto help out, really liked her
(47:59):
and you know we got on well.
And then when I took over asCEO of Inherited Cancers
Australia, she called me andsaid I'd love to have a chat and
she just gave me a bit offeedback about what some of the
people, the patients you know,and just a bit of feedback to
help us guide, you know, oursort of next few years which was
(48:20):
great, you know, really honestfeedback, which is what we need,
um, and then we decided earlythis year we really needed to
start an official medicaladvisory committee.
So we unofficially had lots ofexperts that were always happy
to help us, and we really needto formalize, formalize this.
And I thought, right, who do Iwant as a chair?
(48:42):
And I said it has to be agenetic counselor.
I said this to my board becausethat's you know this that is
the most important part of ofwhat we're about.
So, um, I called Laura and I waslike, hey, and you know she's
busy, like for everyone and butshe, she jumped to the chart.
She was so, um, happy to helpand so we spent a couple of
(49:03):
months working out who we'dinvite.
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 ourfirst meeting she goes wow,
we've got some really incredible, you know smart, um, people
that are really understand, youknow, inherited cancer.
We wanted to choose.
You know, we've got a breastsurgeon and a plastic surgeon
(49:25):
and a gyneon and now we'veactually got a
gastroenterologist and so it's areally you know, a menopause
expert.
We've really tried to to coverand, you know, and hopefully
we'll grow in the future, soyou're having Laura there, but
Laura's even you know beforethat she's always there.
I send her lots of emails.
She's very helpful, patient, um, and yeah, she's been really,
(49:47):
really supportive.
So, yeah, look, our connectionwith genetic counselors is so
important and I and we've reallybuilt that over the last few
years with the clinical geneticservices in Australia.
I know many of them will tellpatients about us because they
know that we can help them withthat 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 thistalk with you and to learn a bit
more about Inherited CancersAustralia.
And yeah, I wish you and theorganisation 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 specialepisode, check out
podcastthonorg to find out abouthundreds of other charities
(50:49):
being featured by some amazingother podcasts.
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