March 10, 2025 • 43 mins
Dr. Matt Burgess interviews genetic counsellor and researcher Dr. Sibel Saya about integrating genetic testing into primary healthcare settings, focusing on polygenic risk scores as a tool for personalizing cancer screening. • Genetic counselling principles applied in primary care settings rather than just specialist clinics • Polygenic risk scores differ from traditional genetic tests by analyzing hundreds of common variants with small individual effects • Australia and New Zealand have the highest bowel cancer rates globally, making early detection tools particularly important • Tools like CRISP help assess individual bowel cancer risk using lifestyle factors combined with genetic information • Cultural differences must be considered when implementing genetic testing in diverse communities • GPs see genetic risk assessment as within their scope despite time constraints • Risk information alone doesn't change behaviour – it's the opportunity to discuss screening that matters • Implementation research happening alongside efficacy trials to speed translation into practice • Stratified screening approaches could be widely available within 5-10 years If you'd like to learn more about polygenic risk scores or risk-stratified cancer screening, visit our website or subscribe to Demystifying Genetics for future episodes on these topics.
Demystifying Genetics is sponsored by TrakGene https://www.trakgene.com/
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Episode Transcript
Available transcripts are automatically generated. Complete accuracy is not guaranteed.
Matt Burgess (00:01):
Hello, my name is Dr Matt Burgess and I am your
host on Demystifying Genetics.
I am a genetic counsellorpracticing in Melbourne,
australia.
Unlike many genetic counsellors, I've been lucky enough to have
ordered and explained to bothpatients and ordering providers
about a relatively new type ofgenetic test called polygenic
(00:22):
risk scores.
Today, my podcast guest is DrSabelle Sayer, genetic
counsellor and researcher at theUniversity of Melbourne.
Join us for a greatconversation about genetics in
primary health care andpolygenic risk.
Hello, sabelle, and welcome toDemystifying Genetics.
Hi, matt, thank you for havingme.
(00:43):
It's very exciting.
It's good to see your smileyface.
How's it going?
Sibel Saya (00:49):
Not too bad.
It's been a lovely sunny day.
So yeah, nice Sunday, it's beengreat.
Matt Burgess (00:55):
Excellent.
Now I made a big assumptionabout you.
I just thought, when you saidthat you know you agreed to be a
podcast guest, that maybe youhaven't done this much before.
And then I've come across allof these episodes of a podcast
called Cheers with Peers andyou're all over it.
Sibel Saya (01:17):
How did you find it?
Were you searching me onSpotify or something, or my name
in the word podcast?
Matt Burgess (01:25):
That's exactly what I was doing.
I was doing my homework.
Sibel Saya (01:29):
Well, you're a very conscientious host.
Yeah, I kind of forgot aboutthat.
Yeah, so I.
So that's produced by.
Well, it was produced by anorganisation called PC4, and I
always forget exactly what theystand for, but they are the
Primary Care CollaborativeCancer Clinical Trials Group, so
they are essentially all aboutfacilitating clinical trials in
(01:52):
primary care and helpingresearchers like me to get
funding and do research.
And so, yes, I hosted a seasonof their podcast that was very
hilariously called Cheers withPeers.
I get it.
So I got to do what you do andinterview people who are
(02:13):
interesting and besides me,obviously, and, yeah, had a lot
to say about academia and givesome sort of tips for early
career researchers and you knowwhat skills they might need to
sort of survive in that academicworld.
So it was actually quite fun.
Yeah, oh cool.
Matt Burgess (02:32):
But Cheers with Peers.
It kind of suggests that maybeyou're recording the podcast
whilst drinking a glass of wineor having a beer.
Were you drinking on the job?
Sibel Saya (02:46):
No, no, I think there was some really terrible
like sound effects at the endwhere we go.
So cheers to that or something,but either that we empty glass
or have like water.
It was quite, quite sad.
We should have, maybe what itwould be fun to do with.
Uh, yeah, get that and get thatgame weeks around dirty secrets
.
Matt Burgess (03:04):
I don't know now, when I have guests on I, I do
like to sort of ask if there areany podcasts that they're
currently listening to, and youmentioned that you really like a
podcast at the moment calledthe rest is history.
Now I'm not totally across itbut I kind of thought, oh you
know, maybe it'd be like a fun,sort of like bite-sized bits of
(03:27):
history.
And then I sort of looked at itand it looks like it's quite
serious and long.
Are they like history lessonsor is it like you're studying
like history 101 or yeah?
Sibel Saya (03:51):
how is the podcast for you?
Well, I mean, I think thedifference between having to sit
into that podcast and having tostudy history, that it does not
matter whether you remember anyof it and I remember zero of it
, like I occasionally throughoutwhat I was saying, I'm like
that's really interesting.
I should remember that and tellsomebody.
But it goes up one ear, in oneear and out the other.
So I really enjoy it for justthe stories and you know, they
(04:13):
talk about all different periodsof history.
Some of them I find moreinteresting than others, but you
can decide which episode youlisten to.
Um, and, yeah, the veryhistorians, which is kind of fun
, but they kind of joke thatthey tell everything from this
sort of very British point ofview where the Brits have done
nothing wrong, acknowledging ofcourse that they've done many
(04:34):
things wrong.
But it's, yeah, it's a reallyfun podcast and I find the
current affairs podcastsparticularly depressing at the
moment, so I'm just deciding toput that to the side and then
just listen to ones abouthistory that are interesting in
passing and, yeah, while I sortof do my run for the day or
(04:58):
something.
So, yeah, but I would recommendit.
There's another one in the samelike suite called the Rest is
Entertainment, which is alsoexcellent, oh, thank you.
Another recommendation I willrecommend that there's another
one in the same like suitecalled the Rest is Entertainment
, which is also excellent, ohthank you.
Matt Burgess (05:07):
Another recommendation I will check that
out Now.
I met you many years ago.
You were a student in thedepartment I worked in while you
were doing your Masters ofGenetic Counselling and you.
So you finished that degree andyou did work a little bit as a
genetic counsellor and thenyou're sort of more in academia
(05:27):
and research now.
Do you identify as a geneticcounsellor?
Sibel Saya (05:34):
Yeah, but I feel a bit like a fraud sometimes.
Yeah, you're right.
So that was great fun doing oneof my placements with you road
trips out to Wollongong notWollongong, sorry, that's um
like Warrnambool and places likethat in in Victoria together.
Um, yeah, so I feel thatbecause my experience as a
(05:55):
clinical genetic counsellor wasonly a few years and now it was
quite a few years ago I thinkthat everything that I do is
very much informed by geneticcounselling and my degree and my
experience and I have beenworking in research that is very
genetic counselling focusperhaps or informed, for many
(06:16):
years.
But I think if I'm in a room ofgenetic counsellors, I would
maybe be less likely to say thatI'm a to identify as a genetic
counsellor.
But if I'm in a group of youknow, gps, which is where my
research is in genetics andprimary care, you know I feel a
bit more able to shout mygenetics credentials.
(06:37):
Yeah, so it depends on thecontext maybe, but it definitely
influences what I do.
Matt Burgess (06:44):
I think it's sort of it's how you feel, as well
like so if you feel like agenetic counsellor doing
research like yeah, the vibes asthey say yeah, absolutely, yeah
, yeah when you finished yourstudies, you were lucky enough
to move to London and work as aclinical genetic counsellor over
(07:08):
there.
I've got questions like how easywas that?
And like logistically, like ifthere are genetic counsellors
listening or students that arelistening and thinking, oh, I
would love to, you know, leaveAustralia and go on a working
holiday for a few years, likewhat sort of advice would you
have for them?
Sibel Saya (07:28):
I mean, I know of many Australian genetic
counsellors that have done itand my understanding of the
genetic counsellors the Britishgenetic counsellors that I still
keep in touch with thatAustralian genetic counsellors
have a very good rep.
So I would definitely encourageyou to think about it.
Logistically it was pretty easy, because our course, our
(07:52):
master's courses, are you know,I think they're I think all of
them presumably are transferableand they sort of accept them
when you're working, at least inthe UK UK, obviously that every
country is different, but inthe UK I could do that, um, I
had to when I this was back in2011, so it's pretty out of date
information now but when I, Ibasically just tried to do that
(08:16):
thing where you cold emailpeople or you.
The first, one of the firstthings I did is I presented my
master's work at the um, theBritish Society, the Genetic
Counselling Society, which hasan acronym but I can't remember
um, and so I tried to meet a fewGCs there and then I, you know,
went and I visited theparticular clinic uh that I
(08:38):
ended up getting a job at, atthe Royal Marston, which is a
specialist cancer hospital, um,and then they just sort of
pulled me on the books as acasual staff member what they
call a bank staff member, um, tostart with, and then.
So I just sort of tried to getmy foot in the door, which in
the end worked out, um, uh, yeah, so it's definitely doable.
(09:00):
I think it's part of it's thethe, you know, knowing somebody
as usual, or just introducingyourself to someone and then
asking them if they wouldn'tmind you coming in and having a
coffee with them or pickingtheir brain.
So then when they next have ajob available, they might be
able to.
Or if they have, you know,maternity leave, as often
happens, you know, you might beable to sort of have a step
(09:20):
ahead when you apply, ahead, um,when you apply, and then just
sort of hope because I've onlystarted part-time and then I
managed to, once they neededsome more um, fte, they, they
managed to pull me up tofull-time, yeah, so I think it's
just putting yourself out thereand giving it a go, really.
Um, that was my experience atleast and it worked out and I
(09:42):
was all.
I was fully prepared to get backon a plane and come home if it
didn't work out, but I was luckythat it did oh good, yes, I
think it's the the a a n g cyeah, well, a s g c association
of nurses nurse there.
Yeah, because they used to havelike nurse genetic counselors.
Matt Burgess (10:00):
Yeah, you're right um genetic nurses and
counselors.
Sibel Saya (10:05):
Yeah you're right um genetic nurses and counselors.
Matt Burgess (10:07):
Yes, yeah, got there and I think that that's
great advice and because geneticcounseling, like it's such a
small field, like networking isreally important.
You can sort of like um, get tomeet quite a few people and
sort of put the feelers outthere.
So well, it sounds like youwere successful at doing that.
Sibel Saya (10:28):
Yeah, but the other thing, though that I didn't ever
have to navigate is the sort ofaccreditation part.
So yeah, because I moved intoresearch before I really started
that, and I think that wouldhave been a little bit more
tricky to try and do a part overthere, part over here, but I
think there are still avenues todo that.
Matt Burgess (10:42):
Yeah, so you did a science degree and then you did
genetic counselling and then a.
Phd.
Like when you were doing yourscience degree, did you think
like when did you realise thatyou wanted to do genetic
counselling?
And were you sort of like mostof us who kind of were like, oh,
(11:02):
I like science, but I likepeople yeah?
Sibel Saya (11:06):
exactly.
I know it's such a cliche,isn't it?
Yeah, basically I'm not surethat I'd heard of genetic
counselling until third yeargenetics, really in my undergrad
and I thought, yeah, exactlythat You're like oh, it sounds
like a good combination.
I don't want to be in a lab.
I hate lab work.
I to be in a lab.
I hate lab work.
I'm really bad at lab work.
I will.
I like this idea of kind ofbeing in a clinic and seeing
(11:26):
people every day and then eventhough in the end I didn't do
that for that long, but yeah, Ilike the idea of combining all
of those skills together.
And then I worked for a yearbetween the two degrees in a
place called the EpilepsyResearch Centre.
That was, I think, a jointventure between the Austen and
(11:49):
Unibel, so I got a bit of ataste of research as well before
I started genetic counselling,which was great, and in the end
that's sort of where I ended up,weirdly.
Matt Burgess (11:59):
Ah, excellent, and then so when you sort of
started your PhD, were youthinking that you wanted to sort
of move away from geneticcounselling and sort of become
more of an academic, or what wassort of your thinking around
enrolling in a PhD?
Sibel Saya (12:21):
So I worked in research in London as well.
So I sort of just, you know, bya sequence of events, I ended
up working in a research area,um, that was very much to do
with genetics, cancer andtargeted cancer screening, which
is still what I'm doing now.
Um, so I got a bit of a tasteof of research while I was in
(12:43):
London, um, at a place calledthe Institute of Cancer Research
, and I realized that I reallyloved research.
So I loved the.
I mean, genetic counseling issimilar, but not to the same
extent can you be constantlysort of learning and upskilling
and doing a real variety ofthings every day.
I really discovered that Iloved just the process of doing
(13:07):
good research, or theorganisational side of research.
I loved like data, and then Ithought, well, it's probably
time to move home one.
But if I want to like, I wantedthe excuse to be able to learn
more.
And when you're employed,that's a little bit more of a
difficult sell even if you'reemployed in a research job to
(13:28):
say to your boss oh hey, I wantto do this course or you know,
for five days or for two weeksor for a month or whatever,
whereas when you're a student,you know that's what you're
supposed to be doing.
So, yeah, I put out feelershere in Melbourne for either a
job or a PhD.
And I sort of came across thisad for the PhD that I ended up
(13:50):
doing with my supervisors aroundtargeted bowel cancer screening
to the population, about alifestyle risk prediction tool
that we still developed calledCRISP.
That was around.
You know, a way for the generalpopulation or people in general
practice to enter their riskfactors for bowel cancer, not
(14:12):
genetic risk factors, but thingslike you know red meat intake,
bmi, smoking, you know fruitintake, aspirin, screening
history and how best toimplement that sort of tool for
targeted bowel cancer screening.
And then I sort of got in thereand my boss, my primary
supervisor, was always veryinterested in genetics.
(14:34):
He's a GP but he's beeninterested in genetics and has
been doing a lot of work aroundgeneral practice and genetics
for decades.
And I just kept talking aboutpolygenic risk scores and
genomics and that sort of stuff.
So in my supervision meetingsand I just kept talking about
polygenic risk scores andgenomics and and that sort of
stuff, so in my supervisionmeetings I just talk about
genetics and these, these newtests, um, and then my PhD just
totally switched to that, um,which was in his interest as
(14:57):
well, uh, but yeah, I sort ofmoved away from that lifestyle
tool and moved it into a verythoroughly genetics PhD, which
worked well, I think, given mybackground.
Matt Burgess (15:10):
So yeah, coming from a genetics background and
as genetic counsellors, likemost genetics in Australia is
sort of in secondary or tertiaryhealth care and you know like
it's a specialist service andthat's sort of how things have
(15:31):
sort of evolved clinically inAustralia.
However, your research is verybased in primary health care.
So, and when we talk aboutprimary health care, that's
really with generalpractitioners, so like the first
person we see, when we talkabout primary healthcare, that's
really with generalpractitioners, so like the first
(15:52):
person we see when we need helpwith something medical usually,
how can we get genetics intoprimary healthcare?
It's a big question, but yeah,it's such an easy question.
Sibel Saya (16:01):
I can definitely answer that in a minute.
Yeah, it's super, supercomplicated.
It's absolutely verycomplicated and I think that's
what I've really loved aboutthis is taking lots of
principles of geneticcounselling that we all learnt
and we practice around, thingslike informed choice and that's
like social care that isrequired around a lot of genetic
(16:23):
tests not necessarily all ofthem, but then I think sometimes
we do suffer from a little bitof this idea of genetic
exceptionalism, that a genetictest just by its nature is
special, which I think a lot ofthe genetic tests that have been
done for decades in the clinics, in those tertiary clinics that
(16:45):
you talked about, you know, arepretty intense and they are
quite special and thefundamentals of genetic
counselling have been built uponthose principles.
We have an hour or more to talkwith a person about a genetic
test before they do it and thenagain when they get their
results.
But the new types of genetictests that are now coming out
(17:08):
that are so much you knowthey're still fundamentally
genetic.
Things like polygenic riskscores that I work on, or things
like pharmacogenomics they'renot the same in a lot of ways.
So, for instance, their youknow implications for family
members are much less, muchlessened Often the risks that if
(17:28):
you give a person a polygenicrisk or result, it's not going
to be equivalent to the riskthat comes from a monogenic
mutation in 99 or 95% of cases.
So there's all sorts of, youknow, bits of that genetic
counselling process that shouldand will be sort of translated
(17:49):
into primary care whendelivering these sorts of new
genetic tests to the wholepopulation.
But there's parts that perhapsthat aren't as necessary, as you
know, when you're talking toreally high risk people in those
tertiary clinics.
So how can we guess to try andanswer your actual original
question as to how can we, Ithink I think we need to think
(18:12):
about those parts that arereally, really necessary, the
bits that really we need to, theskills that we need to impart
into people like generalpractitioners or even practice
nurses to help them be able toadminister these sorts of tests
and talk with patients aboutthese sorts of tests, to help
(18:32):
the patients make an informeddecision about them.
And also, you know what happensnext when they get their
results and then refer on whennecessary, which might happen,
but it is not, you know, it'snot as though we have to take,
we can.
We can't do this.
We can't take geneticcounselling as a whole and then
upscale it to the wholepopulation.
That's not possible.
We don't have enough geneticcounsellors and in my opinion
(18:54):
it's it's also not necessary.
We just need to take thoseparts that are required to be to
be distributed, those skillsthat need to be distributed to
to all these different types ofhealth professionals.
And then it's also not justprimary care, I mean, it's not
just general practice.
You know, primary care, as yousaid, is that first point of
health care, but it's not justgeneral practice.
(19:17):
It's places like communityhealth centres, it's places like
ACHO, so Aboriginal ControlledHealth Organisations, because
people get their primary healthcare from lots of different
places.
So in my opinion, it's not aone avenue sort of idea.
It's not just general practice,it's how do we, you know, help
(19:38):
people get into these sorts oftests that might be relevant to
them, from wherever they getthat sort of health care from?
Matt Burgess (19:47):
from, from wherever they get that sort of
health care from.
I think that sort of highlightssomething that can sometimes be
surprising to the lay person,because I think when the lay
person or when people in thecommunity talk about genetics,
they think inherited, whereaswhen we talk about genetics, um,
(20:09):
we mean to do with the genesand sometimes that's inherited,
and I think that once, yeah, abig part of sort of explaining
genetic tests, um, it's like, ohwell, it's definitely genetic,
but it's actually not we're notlooking at like the inherited
component, and I guess that'slike like a big feature of these
(20:31):
new sort of polygenic risktests that are sort of becoming
more and more sort of popular ortalked about or available at
the moment.
Sibel Saya (20:40):
Yeah, so, yeah, absolutely, and they, you know,
and I guess technically they areinherited.
It's just that they'reinherited in a totally different
way.
So you know, I guess, just toexplain, so, in cancer, which is
where a lot of the literaturearound polygenic risk scores is
so, traditionally, you know wemight have done a BRCA test for
(21:04):
a woman who has breast cancerand a family history of breast
cancer, so looking for mutationsin either BRCA1 or BRCA2.
And if you carry a mutation,then all of your children and
your siblings have a 50% chanceof carrying that same mutation.
And if you have that mutation,if you have a BRCA1 mutation,
your risk of breast cancer iswhat?
60% to 80% over your lifetime.
So they're huge, they're quitesubstantial risks and it
(21:27):
requires a lot of consideration.
So they're huge, they're quitesubstantial risks and it
requires a lot of considerationFor a polygenic risk score you
know you're talking about forthe breast cancer polygenic risk
score that we're currently sortof looking at is 313 SNPs, and
I know I don't need to tell youall of this, but anyway.
So the SNPs are, you know,commonly inherited variants,
(21:48):
that you variants, that there's313 of them in this one
polygenic risk score for breastcancer.
Each of those variants onlycarries a slight increase or
decrease in risk of breastcancer.
So the idea is, if you add themall up together, you can tell
somebody something meaningfulabout their individual risk.
And tell somebody somethingmeaningful about their
(22:10):
individual risk.
But just because I might have aslightly increased or slightly
decreased or even slightly moreincreased polygenic risk for
breast cancer, that does notmean that my sister will also
have that or have a 50% risk ofhaving the same sort of risk,
which is how it is for a BRCAmutation.
So it's the way this is.
(22:31):
Yeah, it's really interestingbecause the way that we
technically think about thegenetics and inheritance is
really really different.
But then when you're talking toan individual, you're right
that these ideas of inheritanceare sort of fixed, you know, for
a lot of people.
So, and we find this when we are, you know, we're trying to
(22:53):
expand a lot of the work that wecurrently do to think about how
perhaps different people fromdifferent cultural backgrounds
also think about genetics andthink about inheritance and
think about cancer.
Because when we do our trialsfor PRS, you know we often this
(23:14):
is a problem across all clinicaltrials where you often have
exclusion criteria for peoplewho cannot speak English.
But even if you were to be ableto translate all of your
documents and help somebody,make you know, give informed
consent to participate in atrial in a language other than
English, when we start talkingabout things like genetics and
disease and inheritance andfamily, there's cultural
(23:35):
differences as well, and youknow this hasn't been explored
as much as it could or shouldand we are still really early in
our work in trying to look atthis, but we're hoping that
that's another aspect that wecan include in our research.
You know, if you think aboutsome of the big cultural groups
(23:56):
even in Melbourne so people ofChinese background or Vietnamese
background or Indian background, or you know it will be
different for everybody.
And if we're going to haveprograms where we make polygenic
risk scores available to thewhole population, we need to be
thinking about, well, how doesall of the different people
think about them and how can webest help them make the best
(24:17):
decision about whether they wantto do one of these tests or not
?
So there's lots of layers andlayers and layers of ways to
think about it.
Matt Burgess (24:25):
Yeah, complex and complicated I think that's sort
of my mantra at the moment whentalking about polygenic risk
score.
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(25:11):
You know, a statistic I saw theother day that sort of
surprised me was that australiaand new zealand actually have
the highest number of bowelcancers in the world yeah, yeah
but I guess the flip side or thepositive part of that is that
about 95% of people survivetheir diagnosis, so that's
(25:35):
reassuring.
But then that brings up thequestion of how do we find the
people that are at risk and thenhow do we manage that risk.
And so you sort of mentionedyour work with CRISP, manage
that risk, and so you sort ofmentioned your work with CRISP.
Um, was the idea that peoplewould sort of, you know, go
(25:56):
online by themselves and sort ofdo it by themselves, and or was
it that they sort of do it whenthey're with their GP?
Sibel Saya (26:08):
Yeah, so it sort of depends.
So all of our work generally,most of the work that I do, is
around risk stratifiedpopulation cancer screening.
So for bowel cancer, but nowwe're also expanding into other
cancers, so breast and prostateand melanoma, and the idea is
that one you can do a test oruse a tool like CRISP to assess
(26:32):
your risk, to determine whatcancer screening you should have
, and then there's the next stepof helping somebody make the
decision to actually do thecancer screening that's
appropriate for their risk.
So for CRISP, the way that wetested it in the trial, the way
that it's currently set up, theCRISP tool is designed to be
(26:53):
used with a health professional,so that could be a GP or it
might be like a general practicenurse.
There are other risk tools forother cancers that are publicly
available.
So there's one called I Preventfor breast cancer.
There's a couple of melanomaones that are, you know, public
(27:13):
facing and the idea of CRISP.
At the moment, some of the workwe're doing is trying to do some
usability testing and sort oflook at if, if this was to
become a publicly facingresource where you could just go
in and fill in your owninformation yourself.
What do we need to do to makethat easy for people to do, to
(27:35):
make sure that they're answeringthe questions correctly,
because some of them are sort ofmedical questions and then you
know what happens next.
You know, trying to make surethat it's clear that, okay, now
you can take this to your GP orwhoever it might be to talk
about what screening you shoulddo.
So there is a bit of work thatwe're currently doing to
(27:55):
increase the acceptability andusability to the general public,
but then also make sure thatit's clinically safe as well.
You want to make sure thatyou're giving the correct
information to people using thattool.
Matt Burgess (28:08):
Something that I find really interesting is, you
know, as a genetic counsellorand I've sort of mentioned this
on other podcasts um, you know,sometimes we're involved with,
like clinical research and umenrolling people into clinical
trials.
But going from like a phase onetrial to like something that's
(28:29):
clinically available can takedecades.
And you know, like it'sdefinitely not a fast process.
And you know, and it'simportant that um it's not a
fast process, you know, likethat it's rigorous and there's
evidence that you know we'rehelping and all of that kind of
thing.
I I know in my practice inAustralia we have access to a
(28:51):
clinically available PRS test.
But I was just wondering, like,from your point of view, like
you know, when will we be ableto go to our doctor and say, oh,
I read in the paper thatthere's this thing called
polygenic risk score.
Can I have that test?
Like, are we close?
Sibel Saya (29:08):
Yeah, it's such a good question, um, and I don't
know if I know the answer.
I think there's there's acouple of things that we still
need to know the answer to.
So there are some really bigtrials in the US and in Europe
that are looking at whethergiving, for instance, a woman
(29:28):
her polygenic risk score resultfor her breast cancer risk and
then amending her screeningbased on her PRS risk, whether
that actually picks up morecancers early, and also there
are minimal harms from that inthat when you reduce a woman's
risk, reduce a woman's screening, if she's at lower risk, then
(29:49):
you know you're not reducingscreening for the wrong people.
So there's a few big trialsthat I think we'll be reporting
in the next couple of years andI think that is a big bit of
evidence that we need.
I think you know there's beenall sorts of talk about whether
we need to do similar trialshere in Australia.
There's been all sorts of talkabout whether we need to do
(30:09):
similar trials here in Australia.
I'm of the opinion that thosesorts of trials are very big and
very expensive and take a longtime, and I'm not sure that you
(30:30):
really need to wait that long todo an Australian specific trial
.
I think that we have goodenough sort of modelling
techniques that we canextrapolate results from
international trials in placeswith similar healthcare systems
for us to sort of know theanswer to that before without
having to fork out all that timeand money to do an Australian
specific trial In the meantime.
You know it's really as you saidthere is a really long sort of
evidence to practice gap.
(30:51):
You know there's lots ofnumbers bandied around.
I think one I've heard recentlyis 14 years or something that
it takes to implement a provenhealth intervention.
Obviously that is too long.
So a lot of the work that we dois around that translational
evidence.
So you know this.
The idea now is that you needto be doing all of this research
(31:12):
in parallel.
While you wait for those bigtrials to figure out the
efficacy of a particular newintervention, you need to also
be thinking about well, how didthis new intervention fit into
our current healthcare system?
How can we implement it?
What are the things we need tothink about?
Um, what is the acceptabilityof the public of this sort of
(31:32):
new intervention?
Are people actually going to doit?
Are they going to follow yourscreening advice after you give
them a risk and therefore changethe screening frequency or the
the starting age of theirscreening.
So that's a lot of the workthat we do.
That's really crucial and Ithink, I think I feel like we
(31:53):
are getting there, but there'sstill, you know, a lot of things
to do.
You know one of the bits that ismissing, the evidence that's
missing is around, as I said,you know culturally and
linguistically diversecommunities and how you know you
might ensure that they are ablealso, and find it acceptable as
well, to do these sorts oftests, of course, our aboriginal
and torres strait islandpopulations, where you know
(32:15):
there is, there has been a lotof sort of misdone genetic
research in the past in in thosecommunities and we absolutely
cannot repeat those mistakes.
So you, you know you need to bebringing the whole of the
country along with this sort ofjourney and I think there is a
(32:35):
real impetus from the governmentto make sure that they are
gathering the evidence, fundingthe researchers to do this work,
to develop the evidence andthen implementing these sorts of
things in a timely manner.
So the Australian Cancer Planthat was released by Cancer
Australia this year, or perhapslast year now must have been
(32:58):
this year has a real focus onrisk stratified cancer screening
and trying to ensure that youknow that is happening in a
timely way and they have a real,real, real focus of starting
from scratch, like starting nowwith aboriginal communities um
discussing with them what theythink about all of these things,
(33:18):
not just screening but allaspects of cancer care in
australia, um to make sure thatyou know we're bringing
everybody along on these sortsof of journeys.
So I don't think that I knowthe answer to your actual
question, which was like can yougo to your doctor and ask for
this?
I mean, I can't imagine it's.
If it's going to happen, Iimagine it'll happen in the next
(33:41):
five to ten years, but it's.
You know these things are hardto predict.
Matt Burgess (33:44):
Just, I don't know if you noticed, but, um, as you
were talking there, I couldhear someone knocking at the
door.
I'm like what is going on?
And my dog, banjo, was at thedoor.
Sibel Saya (33:56):
So I was wondering, but I thought I'd just keep
talking.
I thought it must have beensome sort of animal yeah, so I
mean he's being well behaved.
Matt Burgess (34:06):
He's just sitting by my feet.
Oh, he's down there.
Yeah.
Sibel Saya (34:09):
Yeah, the cat I'm cat sitting is also being very
well behaved.
She's sleeping on the couch,though.
Matt Burgess (34:14):
Oh, lovely.
So that what your sort of lastresponse, you know it sort of
made me think about healthcareand hang on, what was my point?
Um, as genetic counselors, youknow, we like when we think of
(34:40):
public health the whole idea issort of stratifying people into
different risk categories andseeing what people are at risk
of and then sort of doingsomething about that.
You know whether you know it'skind of, yeah, an intervention,
whatever that is, and I don'tknow if I am sort of making it
(35:01):
too simplistic, but, like withmy sort of experience in PRS, it
kind of seems like there aretwo groups of sort of
interventions.
Um, so, like with breast canceror bowel cancer, like if
someone is seen to be, or foundto be, at increased risk, there
are things like colonoscopies orMRIs or mammograms, so like
(35:27):
sort of medical tests that youcan do that sort of gives good
information.
But then there are sort of likethese behavioral kind of like
oh you, you might be atincreased risk of heart disease
or you might be at increasedrisk of atrial fibrillation,
like you need to eat better oryou need to lose some weight or
(35:50):
I don't know.
In my mind I see those as a verydifferent intervention like
have you guys looked intoresearch around um the uptake of
that kind of?
Sibel Saya (36:05):
yeah, in a way helping people to do cancer
screening is more of alow-hanging fruit.
I mean, and and and still youknow our um uptake of the bowel
cancer screening program.
The population program is only40%, so that's, you know, pretty
low.
It's so much harder to changepeople's behavior in terms of
(36:26):
those things like eating betteror doing more exercise and all
of those sorts of things.
So we in some ways we focus onthings that are a little easier
to help people to do, like theircancer screening.
But I do think there's still autility in, you know, providing
people those risks.
(36:47):
You know there's, there's moreliterature now around the idea
of personal utility, about theinformation that comes from
polygenic risk scores, which Ithink is a really interesting
point.
You know this is informationthat people perhaps have a right
to have about their own health.
But then I also think that ifyou know that somebody is at
particular risk of atrialfibrillation or you know,
(37:10):
coronary artery disease, thenperhaps your efforts to help
them change those behavioursmight be a little bit more, you
know, rigorous.
So those resources to helppeople make those healthier
decisions for like a better wayof expressing it might you can
(37:32):
sort of condense them to thepeople who really need it.
But it's still not.
You know, it's not going to bea silver bullet and I think that
the evidence you know there wasa lot of hype around originally
, maybe 10, 15 years ago, thatif you provide people their
individual risk, then theirbehaviour will magically change
and they'll, you know, thenthey'll start going for runs and
they'll eat lots of vegetablesand they'll do all their cancer
(37:53):
screening and I think that theboat has well and truly, you
know, say the ship has sailed onthat.
We know that just givingsomebody their risk is not going
to change their behavior.
So that's why the way we thinkabout it is that the risk giving
somebody their risk is only onecomponent of this intervention.
You know, it's the opportunity.
So when somebody comes in, youknow in the hypothetical future,
(38:16):
and says, hey, doctor, can Iget my apologetic risk score for
bowel cancer, you say yep,let's do that.
Then we can talk about helpingyou do that FOBT that's been
sitting in your bathroom for thepast six months, or get you
into a colonoscopy.
Or how about I just we call thebreast screen Victoria now and
(38:37):
just make you an appointment now?
So it's that it's theopportunity to discuss more
about the cancer screening thatthat person might be due and the
risk.
In my opinion even though I'm agenetic counsellor and I talk
about risk all day, every day issecondary.
It's the thing that tells youwhat that person should do, but
I don't think in and of itselfit's going to change somebody's
(39:00):
mind about doing the screeningand what has the feedback been
from the actual GPs?
Matt Burgess (39:08):
you know like we're lucky if we get 15 minutes
, yeah, the GP, and like youmight have like a couple of
things on your list that youwant to discuss.
How do you, how can they sortof talk about PRS for five
minutes?
Sibel Saya (39:23):
I just have so much admiration for the GPs and not
just the GPs, but all of thepractice staff that we work with
in our research because, yeah,they are so busy they are
swamped ears.
We all know how difficult it iswhen you go into a general
practice.
Sometimes it's a little bit ofcontrolled chaos.
But they are always sointerested in our research and
they want to upskill.
(39:43):
And then when we ask themspecifically about these sorts
of things you know, where do yousee this sort of test fitting
in our healthcare system?
Do you see it as the remit ofyou as a GP?
They say yes.
They very firmly say yes,because they feel that this is.
They talk about risk all thetime, they assess risk all the
time.
They have discussions aboutcancer screening and
(40:05):
preventative health all the timeand they all say, as usual,
they need a little bit ofupskilling and a little bit of
help and a bit of training andthey need to know where to go
when they can't, you know,answer a particular question or
when somebody is at a particularlevel of risk and you know
where to refer them on to.
But generally they see this asabsolutely in their wheelhouse
(40:26):
and I think this is and I sortof think a lot about.
And there's other experts in our, you know, in our community, in
our research community, that doa lot of work around education,
around apologetic risk scores.
But the way that I think aboutit in this general population
setting is that it's all aboutscaffolding.
So, you know, gps assess familyhistory all the time and they
(40:49):
assess risk all the time.
So when you're doing educationabout apologetic risk scores,
the fact that it's a genetictest, you know it's important,
but it's a little bit by the byyou scaffold on top of what they
already know and then tell themhow this is similar and how
this is different and thenhopefully, with that sort of
education, they are then enabledto go and have those
discussions with their patients.
(41:11):
So I really think that there isa way forward in general
practice with this.
Of course, you know you need towork out things like Medicare
item numbers and you knowthere's already a Medicare item
number for GPs aroundpreventative health for people
who are aged 45 to 49.
So perhaps this sort ofscreening you know pre-screening
(41:32):
risk tests could sit withinsome sort of Medicare item
number that's similar to that,so GPs can actually bill for
this and then they might be morelikely to take it up even when
it becomes available.
So I do think, despite thechallenges that GPs face, they
really do see this as somethingthat could work in their setting
(41:55):
.
Matt Burgess (41:56):
And have you seen the medical curriculum actually
change like?
Is it something that acrossAustralia and if not the world,
like more?
The medical students arelearning more about genetics and
genomics and polygenic riskscore.
Sibel Saya (42:14):
I'm not sure about the medical curriculum.
I do know that the RACGP so ourCollege for General
Practitioners have a really goodresource that has a name,
that's something like Genomicsand General Practice, but I
can't quite remember and thatwas my boss, so his name is John
Emery, an academic GP, and sohe was part of the team that
(42:34):
authored that and there is a lotin there around what tests
currently are available.
You know what tests can gpsorder genetic tests.
The gps can order what uhgenetic tests might their
patients have had from otherhealth um specialties, and then
what is on the horizon, whatmight be coming.
So that's a really goodresource and I think there is
(42:56):
more, more and more awarenessabout these sorts of new tests.
But I couldn't answer thequestion about the actual
medical curriculum, but Iimagine, yeah, it's probably on
its way.
Matt Burgess (43:12):
Fingers crossed.
Well, thank you for such aninteresting conversation.
Thank you.
It has, yeah, it's sort ofopened my eyes to a few
different things.
It's like, oh, wow, like thisis like.
Every time I talk aboutpolygenic risk score, it's like,
oh, I hadn't thought about this, or, you know, this is sort of
a bit more nuanced, or yeah,it's complicated.
Sibel Saya (43:35):
Yeah, I guess it's good.
It keeps me in a job.
Matt Burgess (43:41):
Excellent.
It's complicated.
Sibel Saya (43:42):
Yeah, I guess it's good it keeps me in a job
excellent well, thank you somuch for your time and, yeah, we
wish you all the best.
Thanks, matt.
Thanks for having me.
Hello, my name is Dr Matt Burgess and I am your
host on Demystifying Genetics.
I am a genetic counsellorpracticing in Melbourne,
australia.
Unlike many genetic counsellors, I've been lucky enough to have
ordered and explained to bothpatients and ordering providers
about a relatively new type ofgenetic test called polygenic
(00:22):
risk scores.
Today, my podcast guest is DrSabelle Sayer, genetic
counsellor and researcher at theUniversity of Melbourne.
Join us for a greatconversation about genetics in
primary health care andpolygenic risk.
Hello, sabelle, and welcome toDemystifying Genetics.
Hi, matt, thank you for havingme.
(00:43):
It's very exciting.
It's good to see your smileyface.
How's it going?
Sibel Saya (00:49):
Not too bad.
It's been a lovely sunny day.
So yeah, nice Sunday, it's beengreat.
Matt Burgess (00:55):
Excellent.
Now I made a big assumptionabout you.
I just thought, when you saidthat you know you agreed to be a
podcast guest, that maybe youhaven't done this much before.
And then I've come across allof these episodes of a podcast
called Cheers with Peers andyou're all over it.
Sibel Saya (01:17):
How did you find it?
Were you searching me onSpotify or something, or my name
in the word podcast?
Matt Burgess (01:25):
That's exactly what I was doing.
I was doing my homework.
Sibel Saya (01:29):
Well, you're a very conscientious host.
Yeah, I kind of forgot aboutthat.
Yeah, so I.
So that's produced by.
Well, it was produced by anorganisation called PC4, and I
always forget exactly what theystand for, but they are the
Primary Care CollaborativeCancer Clinical Trials Group, so
they are essentially all aboutfacilitating clinical trials in
(01:52):
primary care and helpingresearchers like me to get
funding and do research.
And so, yes, I hosted a seasonof their podcast that was very
hilariously called Cheers withPeers.
I get it.
So I got to do what you do andinterview people who are
(02:13):
interesting and besides me,obviously, and, yeah, had a lot
to say about academia and givesome sort of tips for early
career researchers and you knowwhat skills they might need to
sort of survive in that academicworld.
So it was actually quite fun.
Yeah, oh cool.
Matt Burgess (02:32):
But Cheers with Peers.
It kind of suggests that maybeyou're recording the podcast
whilst drinking a glass of wineor having a beer.
Were you drinking on the job?
Sibel Saya (02:46):
No, no, I think there was some really terrible
like sound effects at the endwhere we go.
So cheers to that or something,but either that we empty glass
or have like water.
It was quite, quite sad.
We should have, maybe what itwould be fun to do with.
Uh, yeah, get that and get thatgame weeks around dirty secrets
.
Matt Burgess (03:04):
I don't know now, when I have guests on I, I do
like to sort of ask if there areany podcasts that they're
currently listening to, and youmentioned that you really like a
podcast at the moment calledthe rest is history.
Now I'm not totally across itbut I kind of thought, oh you
know, maybe it'd be like a fun,sort of like bite-sized bits of
(03:27):
history.
And then I sort of looked at itand it looks like it's quite
serious and long.
Are they like history lessonsor is it like you're studying
like history 101 or yeah?
Sibel Saya (03:51):
how is the podcast for you?
Well, I mean, I think thedifference between having to sit
into that podcast and having tostudy history, that it does not
matter whether you remember anyof it and I remember zero of it
, like I occasionally throughoutwhat I was saying, I'm like
that's really interesting.
I should remember that and tellsomebody.
But it goes up one ear, in oneear and out the other.
So I really enjoy it for justthe stories and you know, they
(04:13):
talk about all different periodsof history.
Some of them I find moreinteresting than others, but you
can decide which episode youlisten to.
Um, and, yeah, the veryhistorians, which is kind of fun
, but they kind of joke thatthey tell everything from this
sort of very British point ofview where the Brits have done
nothing wrong, acknowledging ofcourse that they've done many
(04:34):
things wrong.
But it's, yeah, it's a reallyfun podcast and I find the
current affairs podcastsparticularly depressing at the
moment, so I'm just deciding toput that to the side and then
just listen to ones abouthistory that are interesting in
passing and, yeah, while I sortof do my run for the day or
(04:58):
something.
So, yeah, but I would recommendit.
There's another one in the samelike suite called the Rest is
Entertainment, which is alsoexcellent, oh, thank you.
Another recommendation I willrecommend that there's another
one in the same like suitecalled the Rest is Entertainment
, which is also excellent, ohthank you.
Matt Burgess (05:07):
Another recommendation I will check that
out Now.
I met you many years ago.
You were a student in thedepartment I worked in while you
were doing your Masters ofGenetic Counselling and you.
So you finished that degree andyou did work a little bit as a
genetic counsellor and thenyou're sort of more in academia
(05:27):
and research now.
Do you identify as a geneticcounsellor?
Sibel Saya (05:34):
Yeah, but I feel a bit like a fraud sometimes.
Yeah, you're right.
So that was great fun doing oneof my placements with you road
trips out to Wollongong notWollongong, sorry, that's um
like Warrnambool and places likethat in in Victoria together.
Um, yeah, so I feel thatbecause my experience as a
(05:55):
clinical genetic counsellor wasonly a few years and now it was
quite a few years ago I thinkthat everything that I do is
very much informed by geneticcounselling and my degree and my
experience and I have beenworking in research that is very
genetic counselling focusperhaps or informed, for many
(06:16):
years.
But I think if I'm in a room ofgenetic counsellors, I would
maybe be less likely to say thatI'm a to identify as a genetic
counsellor.
But if I'm in a group of youknow, gps, which is where my
research is in genetics andprimary care, you know I feel a
bit more able to shout mygenetics credentials.
(06:37):
Yeah, so it depends on thecontext maybe, but it definitely
influences what I do.
Matt Burgess (06:44):
I think it's sort of it's how you feel, as well
like so if you feel like agenetic counsellor doing
research like yeah, the vibes asthey say yeah, absolutely, yeah
, yeah when you finished yourstudies, you were lucky enough
to move to London and work as aclinical genetic counsellor over
(07:08):
there.
I've got questions like how easywas that?
And like logistically, like ifthere are genetic counsellors
listening or students that arelistening and thinking, oh, I
would love to, you know, leaveAustralia and go on a working
holiday for a few years, likewhat sort of advice would you
have for them?
Sibel Saya (07:28):
I mean, I know of many Australian genetic
counsellors that have done itand my understanding of the
genetic counsellors the Britishgenetic counsellors that I still
keep in touch with thatAustralian genetic counsellors
have a very good rep.
So I would definitely encourageyou to think about it.
Logistically it was pretty easy, because our course, our
(07:52):
master's courses, are you know,I think they're I think all of
them presumably are transferableand they sort of accept them
when you're working, at least inthe UK UK, obviously that every
country is different, but inthe UK I could do that, um, I
had to when I this was back in2011, so it's pretty out of date
information now but when I, Ibasically just tried to do that
(08:16):
thing where you cold emailpeople or you.
The first, one of the firstthings I did is I presented my
master's work at the um, theBritish Society, the Genetic
Counselling Society, which hasan acronym but I can't remember
um, and so I tried to meet a fewGCs there and then I, you know,
went and I visited theparticular clinic uh that I
(08:38):
ended up getting a job at, atthe Royal Marston, which is a
specialist cancer hospital, um,and then they just sort of
pulled me on the books as acasual staff member what they
call a bank staff member, um, tostart with, and then.
So I just sort of tried to getmy foot in the door, which in
the end worked out, um, uh, yeah, so it's definitely doable.
(09:00):
I think it's part of it's thethe, you know, knowing somebody
as usual, or just introducingyourself to someone and then
asking them if they wouldn'tmind you coming in and having a
coffee with them or pickingtheir brain.
So then when they next have ajob available, they might be
able to.
Or if they have, you know,maternity leave, as often
happens, you know, you might beable to sort of have a step
(09:20):
ahead when you apply, ahead, um,when you apply, and then just
sort of hope because I've onlystarted part-time and then I
managed to, once they neededsome more um, fte, they, they
managed to pull me up tofull-time, yeah, so I think it's
just putting yourself out thereand giving it a go, really.
Um, that was my experience atleast and it worked out and I
(09:42):
was all.
I was fully prepared to get backon a plane and come home if it
didn't work out, but I was luckythat it did oh good, yes, I
think it's the the a a n g cyeah, well, a s g c association
of nurses nurse there.
Yeah, because they used to havelike nurse genetic counselors.
Matt Burgess (10:00):
Yeah, you're right um genetic nurses and
counselors.
Sibel Saya (10:05):
Yeah you're right um genetic nurses and counselors.
Matt Burgess (10:07):
Yes, yeah, got there and I think that that's
great advice and because geneticcounseling, like it's such a
small field, like networking isreally important.
You can sort of like um, get tomeet quite a few people and
sort of put the feelers outthere.
So well, it sounds like youwere successful at doing that.
Sibel Saya (10:28):
Yeah, but the other thing, though that I didn't ever
have to navigate is the sort ofaccreditation part.
So yeah, because I moved intoresearch before I really started
that, and I think that wouldhave been a little bit more
tricky to try and do a part overthere, part over here, but I
think there are still avenues todo that.
Matt Burgess (10:42):
Yeah, so you did a science degree and then you did
genetic counselling and then a.
Phd.
Like when you were doing yourscience degree, did you think
like when did you realise thatyou wanted to do genetic
counselling?
And were you sort of like mostof us who kind of were like, oh,
(11:02):
I like science, but I likepeople yeah?
Sibel Saya (11:06):
exactly.
I know it's such a cliche,isn't it?
Yeah, basically I'm not surethat I'd heard of genetic
counselling until third yeargenetics, really in my undergrad
and I thought, yeah, exactlythat You're like oh, it sounds
like a good combination.
I don't want to be in a lab.
I hate lab work.
I to be in a lab.
I hate lab work.
I'm really bad at lab work.
I will.
I like this idea of kind ofbeing in a clinic and seeing
(11:26):
people every day and then eventhough in the end I didn't do
that for that long, but yeah, Ilike the idea of combining all
of those skills together.
And then I worked for a yearbetween the two degrees in a
place called the EpilepsyResearch Centre.
That was, I think, a jointventure between the Austen and
(11:49):
Unibel, so I got a bit of ataste of research as well before
I started genetic counselling,which was great, and in the end
that's sort of where I ended up,weirdly.
Matt Burgess (11:59):
Ah, excellent, and then so when you sort of
started your PhD, were youthinking that you wanted to sort
of move away from geneticcounselling and sort of become
more of an academic, or what wassort of your thinking around
enrolling in a PhD?
Sibel Saya (12:21):
So I worked in research in London as well.
So I sort of just, you know, bya sequence of events, I ended
up working in a research area,um, that was very much to do
with genetics, cancer andtargeted cancer screening, which
is still what I'm doing now.
Um, so I got a bit of a tasteof of research while I was in
(12:43):
London, um, at a place calledthe Institute of Cancer Research
, and I realized that I reallyloved research.
So I loved the.
I mean, genetic counseling issimilar, but not to the same
extent can you be constantlysort of learning and upskilling
and doing a real variety ofthings every day.
I really discovered that Iloved just the process of doing
(13:07):
good research, or theorganisational side of research.
I loved like data, and then Ithought, well, it's probably
time to move home one.
But if I want to like, I wantedthe excuse to be able to learn
more.
And when you're employed,that's a little bit more of a
difficult sell even if you'reemployed in a research job to
(13:28):
say to your boss oh hey, I wantto do this course or you know,
for five days or for two weeksor for a month or whatever,
whereas when you're a student,you know that's what you're
supposed to be doing.
So, yeah, I put out feelershere in Melbourne for either a
job or a PhD.
And I sort of came across thisad for the PhD that I ended up
(13:50):
doing with my supervisors aroundtargeted bowel cancer screening
to the population, about alifestyle risk prediction tool
that we still developed calledCRISP.
That was around.
You know, a way for the generalpopulation or people in general
practice to enter their riskfactors for bowel cancer, not
(14:12):
genetic risk factors, but thingslike you know red meat intake,
bmi, smoking, you know fruitintake, aspirin, screening
history and how best toimplement that sort of tool for
targeted bowel cancer screening.
And then I sort of got in thereand my boss, my primary
supervisor, was always veryinterested in genetics.
(14:34):
He's a GP but he's beeninterested in genetics and has
been doing a lot of work aroundgeneral practice and genetics
for decades.
And I just kept talking aboutpolygenic risk scores and
genomics and that sort of stuff.
So in my supervision meetingsand I just kept talking about
polygenic risk scores andgenomics and and that sort of
stuff, so in my supervisionmeetings I just talk about
genetics and these, these newtests, um, and then my PhD just
totally switched to that, um,which was in his interest as
(14:57):
well, uh, but yeah, I sort ofmoved away from that lifestyle
tool and moved it into a verythoroughly genetics PhD, which
worked well, I think, given mybackground.
Matt Burgess (15:10):
So yeah, coming from a genetics background and
as genetic counsellors, likemost genetics in Australia is
sort of in secondary or tertiaryhealth care and you know like
it's a specialist service andthat's sort of how things have
(15:31):
sort of evolved clinically inAustralia.
However, your research is verybased in primary health care.
So, and when we talk aboutprimary health care, that's
really with generalpractitioners, so like the first
person we see, when we talkabout primary healthcare, that's
really with generalpractitioners, so like the first
(15:52):
person we see when we need helpwith something medical usually,
how can we get genetics intoprimary healthcare?
It's a big question, but yeah,it's such an easy question.
Sibel Saya (16:01):
I can definitely answer that in a minute.
Yeah, it's super, supercomplicated.
It's absolutely verycomplicated and I think that's
what I've really loved aboutthis is taking lots of
principles of geneticcounselling that we all learnt
and we practice around, thingslike informed choice and that's
like social care that isrequired around a lot of genetic
(16:23):
tests not necessarily all ofthem, but then I think sometimes
we do suffer from a little bitof this idea of genetic
exceptionalism, that a genetictest just by its nature is
special, which I think a lot ofthe genetic tests that have been
done for decades in the clinics, in those tertiary clinics that
(16:45):
you talked about, you know, arepretty intense and they are
quite special and thefundamentals of genetic
counselling have been built uponthose principles.
We have an hour or more to talkwith a person about a genetic
test before they do it and thenagain when they get their
results.
But the new types of genetictests that are now coming out
(17:08):
that are so much you knowthey're still fundamentally
genetic.
Things like polygenic riskscores that I work on, or things
like pharmacogenomics they'renot the same in a lot of ways.
So, for instance, their youknow implications for family
members are much less, muchlessened Often the risks that if
(17:28):
you give a person a polygenicrisk or result, it's not going
to be equivalent to the riskthat comes from a monogenic
mutation in 99 or 95% of cases.
So there's all sorts of, youknow, bits of that genetic
counselling process that shouldand will be sort of translated
(17:49):
into primary care whendelivering these sorts of new
genetic tests to the wholepopulation.
But there's parts that perhapsthat aren't as necessary, as you
know, when you're talking toreally high risk people in those
tertiary clinics.
So how can we guess to try andanswer your actual original
question as to how can we, Ithink I think we need to think
(18:12):
about those parts that arereally, really necessary, the
bits that really we need to, theskills that we need to impart
into people like generalpractitioners or even practice
nurses to help them be able toadminister these sorts of tests
and talk with patients aboutthese sorts of tests, to help
(18:32):
the patients make an informeddecision about them.
And also, you know what happensnext when they get their
results and then refer on whennecessary, which might happen,
but it is not, you know, it'snot as though we have to take,
we can.
We can't do this.
We can't take geneticcounselling as a whole and then
upscale it to the wholepopulation.
That's not possible.
We don't have enough geneticcounsellors and in my opinion
(18:54):
it's it's also not necessary.
We just need to take thoseparts that are required to be to
be distributed, those skillsthat need to be distributed to
to all these different types ofhealth professionals.
And then it's also not justprimary care, I mean, it's not
just general practice.
You know, primary care, as yousaid, is that first point of
health care, but it's not justgeneral practice.
(19:17):
It's places like communityhealth centres, it's places like
ACHO, so Aboriginal ControlledHealth Organisations, because
people get their primary healthcare from lots of different
places.
So in my opinion, it's not aone avenue sort of idea.
It's not just general practice,it's how do we, you know, help
(19:38):
people get into these sorts oftests that might be relevant to
them, from wherever they getthat sort of health care from?
Matt Burgess (19:47):
from, from wherever they get that sort of
health care from.
I think that sort of highlightssomething that can sometimes be
surprising to the lay person,because I think when the lay
person or when people in thecommunity talk about genetics,
they think inherited, whereaswhen we talk about genetics, um,
(20:09):
we mean to do with the genesand sometimes that's inherited,
and I think that once, yeah, abig part of sort of explaining
genetic tests, um, it's like, ohwell, it's definitely genetic,
but it's actually not we're notlooking at like the inherited
component, and I guess that'slike like a big feature of these
(20:31):
new sort of polygenic risktests that are sort of becoming
more and more sort of popular ortalked about or available at
the moment.
Sibel Saya (20:40):
Yeah, so, yeah, absolutely, and they, you know,
and I guess technically they areinherited.
It's just that they'reinherited in a totally different
way.
So you know, I guess, just toexplain, so, in cancer, which is
where a lot of the literaturearound polygenic risk scores is
so, traditionally, you know wemight have done a BRCA test for
(21:04):
a woman who has breast cancerand a family history of breast
cancer, so looking for mutationsin either BRCA1 or BRCA2.
And if you carry a mutation,then all of your children and
your siblings have a 50% chanceof carrying that same mutation.
And if you have that mutation,if you have a BRCA1 mutation,
your risk of breast cancer iswhat?
60% to 80% over your lifetime.
So they're huge, they're quitesubstantial risks and it
(21:27):
requires a lot of consideration.
So they're huge, they're quitesubstantial risks and it
requires a lot of considerationFor a polygenic risk score you
know you're talking about forthe breast cancer polygenic risk
score that we're currently sortof looking at is 313 SNPs, and
I know I don't need to tell youall of this, but anyway.
So the SNPs are, you know,commonly inherited variants,
(21:48):
that you variants, that there's313 of them in this one
polygenic risk score for breastcancer.
Each of those variants onlycarries a slight increase or
decrease in risk of breastcancer.
So the idea is, if you add themall up together, you can tell
somebody something meaningfulabout their individual risk.
And tell somebody somethingmeaningful about their
(22:10):
individual risk.
But just because I might have aslightly increased or slightly
decreased or even slightly moreincreased polygenic risk for
breast cancer, that does notmean that my sister will also
have that or have a 50% risk ofhaving the same sort of risk,
which is how it is for a BRCAmutation.
So it's the way this is.
(22:31):
Yeah, it's really interestingbecause the way that we
technically think about thegenetics and inheritance is
really really different.
But then when you're talking toan individual, you're right
that these ideas of inheritanceare sort of fixed, you know, for
a lot of people.
So, and we find this when we are, you know, we're trying to
(22:53):
expand a lot of the work that wecurrently do to think about how
perhaps different people fromdifferent cultural backgrounds
also think about genetics andthink about inheritance and
think about cancer.
Because when we do our trialsfor PRS, you know we often this
(23:14):
is a problem across all clinicaltrials where you often have
exclusion criteria for peoplewho cannot speak English.
But even if you were to be ableto translate all of your
documents and help somebody,make you know, give informed
consent to participate in atrial in a language other than
English, when we start talkingabout things like genetics and
disease and inheritance andfamily, there's cultural
(23:35):
differences as well, and youknow this hasn't been explored
as much as it could or shouldand we are still really early in
our work in trying to look atthis, but we're hoping that
that's another aspect that wecan include in our research.
You know, if you think aboutsome of the big cultural groups
(23:56):
even in Melbourne so people ofChinese background or Vietnamese
background or Indian background, or you know it will be
different for everybody.
And if we're going to haveprograms where we make polygenic
risk scores available to thewhole population, we need to be
thinking about, well, how doesall of the different people
think about them and how can webest help them make the best
(24:17):
decision about whether they wantto do one of these tests or not
?
So there's lots of layers andlayers and layers of ways to
think about it.
Matt Burgess (24:25):
Yeah, complex and complicated I think that's sort
of my mantra at the moment whentalking about polygenic risk
score.
It really is.
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(25:11):
You know, a statistic I saw theother day that sort of
surprised me was that australiaand new zealand actually have
the highest number of bowelcancers in the world yeah, yeah
but I guess the flip side or thepositive part of that is that
about 95% of people survivetheir diagnosis, so that's
(25:35):
reassuring.
But then that brings up thequestion of how do we find the
people that are at risk and thenhow do we manage that risk.
And so you sort of mentionedyour work with CRISP, manage
that risk, and so you sort ofmentioned your work with CRISP.
Um, was the idea that peoplewould sort of, you know, go
(25:56):
online by themselves and sort ofdo it by themselves, and or was
it that they sort of do it whenthey're with their GP?
Sibel Saya (26:08):
Yeah, so it sort of depends.
So all of our work generally,most of the work that I do, is
around risk stratifiedpopulation cancer screening.
So for bowel cancer, but nowwe're also expanding into other
cancers, so breast and prostateand melanoma, and the idea is
that one you can do a test oruse a tool like CRISP to assess
(26:32):
your risk, to determine whatcancer screening you should have
, and then there's the next stepof helping somebody make the
decision to actually do thecancer screening that's
appropriate for their risk.
So for CRISP, the way that wetested it in the trial, the way
that it's currently set up, theCRISP tool is designed to be
(26:53):
used with a health professional,so that could be a GP or it
might be like a general practicenurse.
There are other risk tools forother cancers that are publicly
available.
So there's one called I Preventfor breast cancer.
There's a couple of melanomaones that are, you know, public
(27:13):
facing and the idea of CRISP.
At the moment, some of the workwe're doing is trying to do some
usability testing and sort oflook at if, if this was to
become a publicly facingresource where you could just go
in and fill in your owninformation yourself.
What do we need to do to makethat easy for people to do, to
(27:35):
make sure that they're answeringthe questions correctly,
because some of them are sort ofmedical questions and then you
know what happens next.
You know, trying to make surethat it's clear that, okay, now
you can take this to your GP orwhoever it might be to talk
about what screening you shoulddo.
So there is a bit of work thatwe're currently doing to
(27:55):
increase the acceptability andusability to the general public,
but then also make sure thatit's clinically safe as well.
You want to make sure thatyou're giving the correct
information to people using thattool.
Matt Burgess (28:08):
Something that I find really interesting is, you
know, as a genetic counsellorand I've sort of mentioned this
on other podcasts um, you know,sometimes we're involved with,
like clinical research and umenrolling people into clinical
trials.
But going from like a phase onetrial to like something that's
(28:29):
clinically available can takedecades.
And you know, like it'sdefinitely not a fast process.
And you know, and it'simportant that um it's not a
fast process, you know, likethat it's rigorous and there's
evidence that you know we'rehelping and all of that kind of
thing.
I I know in my practice inAustralia we have access to a
(28:51):
clinically available PRS test.
But I was just wondering, like,from your point of view, like
you know, when will we be ableto go to our doctor and say, oh,
I read in the paper thatthere's this thing called
polygenic risk score.
Can I have that test?
Like, are we close?
Sibel Saya (29:08):
Yeah, it's such a good question, um, and I don't
know if I know the answer.
I think there's there's acouple of things that we still
need to know the answer to.
So there are some really bigtrials in the US and in Europe
that are looking at whethergiving, for instance, a woman
(29:28):
her polygenic risk score resultfor her breast cancer risk and
then amending her screeningbased on her PRS risk, whether
that actually picks up morecancers early, and also there
are minimal harms from that inthat when you reduce a woman's
risk, reduce a woman's screening, if she's at lower risk, then
(29:49):
you know you're not reducingscreening for the wrong people.
So there's a few big trialsthat I think we'll be reporting
in the next couple of years andI think that is a big bit of
evidence that we need.
I think you know there's beenall sorts of talk about whether
we need to do similar trialshere in Australia.
There's been all sorts of talkabout whether we need to do
(30:09):
similar trials here in Australia.
I'm of the opinion that thosesorts of trials are very big and
very expensive and take a longtime, and I'm not sure that you
(30:30):
really need to wait that long todo an Australian specific trial
.
I think that we have goodenough sort of modelling
techniques that we canextrapolate results from
international trials in placeswith similar healthcare systems
for us to sort of know theanswer to that before without
having to fork out all that timeand money to do an Australian
specific trial In the meantime.
You know it's really as you saidthere is a really long sort of
evidence to practice gap.
(30:51):
You know there's lots ofnumbers bandied around.
I think one I've heard recentlyis 14 years or something that
it takes to implement a provenhealth intervention.
Obviously that is too long.
So a lot of the work that we dois around that translational
evidence.
So you know this.
The idea now is that you needto be doing all of this research
(31:12):
in parallel.
While you wait for those bigtrials to figure out the
efficacy of a particular newintervention, you need to also
be thinking about well, how didthis new intervention fit into
our current healthcare system?
How can we implement it?
What are the things we need tothink about?
Um, what is the acceptabilityof the public of this sort of
(31:32):
new intervention?
Are people actually going to doit?
Are they going to follow yourscreening advice after you give
them a risk and therefore changethe screening frequency or the
the starting age of theirscreening.
So that's a lot of the workthat we do.
That's really crucial and Ithink, I think I feel like we
(31:53):
are getting there, but there'sstill, you know, a lot of things
to do.
You know one of the bits that ismissing, the evidence that's
missing is around, as I said,you know culturally and
linguistically diversecommunities and how you know you
might ensure that they are ablealso, and find it acceptable as
well, to do these sorts oftests, of course, our aboriginal
and torres strait islandpopulations, where you know
(32:15):
there is, there has been a lotof sort of misdone genetic
research in the past in in thosecommunities and we absolutely
cannot repeat those mistakes.
So you, you know you need to bebringing the whole of the
country along with this sort ofjourney and I think there is a
(32:35):
real impetus from the governmentto make sure that they are
gathering the evidence, fundingthe researchers to do this work,
to develop the evidence andthen implementing these sorts of
things in a timely manner.
So the Australian Cancer Planthat was released by Cancer
Australia this year, or perhapslast year now must have been
(32:58):
this year has a real focus onrisk stratified cancer screening
and trying to ensure that youknow that is happening in a
timely way and they have a real,real, real focus of starting
from scratch, like starting nowwith aboriginal communities um
discussing with them what theythink about all of these things,
(33:18):
not just screening but allaspects of cancer care in
australia, um to make sure thatyou know we're bringing
everybody along on these sortsof of journeys.
So I don't think that I knowthe answer to your actual
question, which was like can yougo to your doctor and ask for
this?
I mean, I can't imagine it's.
If it's going to happen, Iimagine it'll happen in the next
(33:41):
five to ten years, but it's.
You know these things are hardto predict.
Matt Burgess (33:44):
Just, I don't know if you noticed, but, um, as you
were talking there, I couldhear someone knocking at the
door.
I'm like what is going on?
And my dog, banjo, was at thedoor.
Sibel Saya (33:56):
So I was wondering, but I thought I'd just keep
talking.
I thought it must have beensome sort of animal yeah, so I
mean he's being well behaved.
Matt Burgess (34:06):
He's just sitting by my feet.
Oh, he's down there.
Yeah.
Sibel Saya (34:09):
Yeah, the cat I'm cat sitting is also being very
well behaved.
She's sleeping on the couch,though.
Matt Burgess (34:14):
Oh, lovely.
So that what your sort of lastresponse, you know it sort of
made me think about healthcareand hang on, what was my point?
Um, as genetic counselors, youknow, we like when we think of
(34:40):
public health the whole idea issort of stratifying people into
different risk categories andseeing what people are at risk
of and then sort of doingsomething about that.
You know whether you know it'skind of, yeah, an intervention,
whatever that is, and I don'tknow if I am sort of making it
(35:01):
too simplistic, but, like withmy sort of experience in PRS, it
kind of seems like there aretwo groups of sort of
interventions.
Um, so, like with breast canceror bowel cancer, like if
someone is seen to be, or foundto be, at increased risk, there
are things like colonoscopies orMRIs or mammograms, so like
(35:27):
sort of medical tests that youcan do that sort of gives good
information.
But then there are sort of likethese behavioral kind of like
oh you, you might be atincreased risk of heart disease
or you might be at increasedrisk of atrial fibrillation,
like you need to eat better oryou need to lose some weight or
(35:50):
I don't know.
In my mind I see those as a verydifferent intervention like
have you guys looked intoresearch around um the uptake of
that kind of?
Sibel Saya (36:05):
yeah, in a way helping people to do cancer
screening is more of alow-hanging fruit.
I mean, and and and still youknow our um uptake of the bowel
cancer screening program.
The population program is only40%, so that's, you know, pretty
low.
It's so much harder to changepeople's behavior in terms of
(36:26):
those things like eating betteror doing more exercise and all
of those sorts of things.
So we in some ways we focus onthings that are a little easier
to help people to do, like theircancer screening.
But I do think there's still autility in, you know, providing
people those risks.
(36:47):
You know there's, there's moreliterature now around the idea
of personal utility, about theinformation that comes from
polygenic risk scores, which Ithink is a really interesting
point.
You know this is informationthat people perhaps have a right
to have about their own health.
But then I also think that ifyou know that somebody is at
particular risk of atrialfibrillation or you know,
(37:10):
coronary artery disease, thenperhaps your efforts to help
them change those behavioursmight be a little bit more, you
know, rigorous.
So those resources to helppeople make those healthier
decisions for like a better wayof expressing it might you can
(37:32):
sort of condense them to thepeople who really need it.
But it's still not.
You know, it's not going to bea silver bullet and I think that
the evidence you know there wasa lot of hype around originally
, maybe 10, 15 years ago, thatif you provide people their
individual risk, then theirbehaviour will magically change
and they'll, you know, thenthey'll start going for runs and
they'll eat lots of vegetablesand they'll do all their cancer
(37:53):
screening and I think that theboat has well and truly, you
know, say the ship has sailed onthat.
We know that just givingsomebody their risk is not going
to change their behavior.
So that's why the way we thinkabout it is that the risk giving
somebody their risk is only onecomponent of this intervention.
You know, it's the opportunity.
So when somebody comes in, youknow in the hypothetical future,
(38:16):
and says, hey, doctor, can Iget my apologetic risk score for
bowel cancer, you say yep,let's do that.
Then we can talk about helpingyou do that FOBT that's been
sitting in your bathroom for thepast six months, or get you
into a colonoscopy.
Or how about I just we call thebreast screen Victoria now and
(38:37):
just make you an appointment now?
So it's that it's theopportunity to discuss more
about the cancer screening thatthat person might be due and the
risk.
In my opinion even though I'm agenetic counsellor and I talk
about risk all day, every day issecondary.
It's the thing that tells youwhat that person should do, but
I don't think in and of itselfit's going to change somebody's
(39:00):
mind about doing the screeningand what has the feedback been
from the actual GPs?
Matt Burgess (39:08):
you know like we're lucky if we get 15 minutes
, yeah, the GP, and like youmight have like a couple of
things on your list that youwant to discuss.
How do you, how can they sortof talk about PRS for five
minutes?
Sibel Saya (39:23):
I just have so much admiration for the GPs and not
just the GPs, but all of thepractice staff that we work with
in our research because, yeah,they are so busy they are
swamped ears.
We all know how difficult it iswhen you go into a general
practice.
Sometimes it's a little bit ofcontrolled chaos.
But they are always sointerested in our research and
they want to upskill.
(39:43):
And then when we ask themspecifically about these sorts
of things you know, where do yousee this sort of test fitting
in our healthcare system?
Do you see it as the remit ofyou as a GP?
They say yes.
They very firmly say yes,because they feel that this is.
They talk about risk all thetime, they assess risk all the
time.
They have discussions aboutcancer screening and
(40:05):
preventative health all the timeand they all say, as usual,
they need a little bit ofupskilling and a little bit of
help and a bit of training andthey need to know where to go
when they can't, you know,answer a particular question or
when somebody is at a particularlevel of risk and you know
where to refer them on to.
But generally they see this asabsolutely in their wheelhouse
(40:26):
and I think this is and I sortof think a lot about.
And there's other experts in our, you know, in our community, in
our research community, that doa lot of work around education,
around apologetic risk scores.
But the way that I think aboutit in this general population
setting is that it's all aboutscaffolding.
So, you know, gps assess familyhistory all the time and they
(40:49):
assess risk all the time.
So when you're doing educationabout apologetic risk scores,
the fact that it's a genetictest, you know it's important,
but it's a little bit by the byyou scaffold on top of what they
already know and then tell themhow this is similar and how
this is different and thenhopefully, with that sort of
education, they are then enabledto go and have those
discussions with their patients.
(41:11):
So I really think that there isa way forward in general
practice with this.
Of course, you know you need towork out things like Medicare
item numbers and you knowthere's already a Medicare item
number for GPs aroundpreventative health for people
who are aged 45 to 49.
So perhaps this sort ofscreening you know pre-screening
(41:32):
risk tests could sit withinsome sort of Medicare item
number that's similar to that,so GPs can actually bill for
this and then they might be morelikely to take it up even when
it becomes available.
So I do think, despite thechallenges that GPs face, they
really do see this as somethingthat could work in their setting
(41:55):
.
Matt Burgess (41:56):
And have you seen the medical curriculum actually
change like?
Is it something that acrossAustralia and if not the world,
like more?
The medical students arelearning more about genetics and
genomics and polygenic riskscore.
Sibel Saya (42:14):
I'm not sure about the medical curriculum.
I do know that the RACGP so ourCollege for General
Practitioners have a really goodresource that has a name,
that's something like Genomicsand General Practice, but I
can't quite remember and thatwas my boss, so his name is John
Emery, an academic GP, and sohe was part of the team that
(42:34):
authored that and there is a lotin there around what tests
currently are available.
You know what tests can gpsorder genetic tests.
The gps can order what uhgenetic tests might their
patients have had from otherhealth um specialties, and then
what is on the horizon, whatmight be coming.
So that's a really goodresource and I think there is
(42:56):
more, more and more awarenessabout these sorts of new tests.
But I couldn't answer thequestion about the actual
medical curriculum, but Iimagine, yeah, it's probably on
its way.
Matt Burgess (43:12):
Fingers crossed.
Well, thank you for such aninteresting conversation.
Thank you.
It has, yeah, it's sort ofopened my eyes to a few
different things.
It's like, oh, wow, like thisis like.
Every time I talk aboutpolygenic risk score, it's like,
oh, I hadn't thought about this, or, you know, this is sort of
a bit more nuanced, or yeah,it's complicated.
Sibel Saya (43:35):
Yeah, I guess it's good.
It keeps me in a job.
Matt Burgess (43:41):
Excellent.
It's complicated.
Sibel Saya (43:42):
Yeah, I guess it's good it keeps me in a job
excellent well, thank you somuch for your time and, yeah, we
wish you all the best.
Thanks, matt.
Thanks for having me.
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