Demystifying Genetics with Sibel Saya

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.

Chapters

• 0:00 Introduction to Demystifying Genetics
• 3:35 Personal Journey of a Genetic Counsellor
• 10:29 Working in Genetics Abroad
• 18:30 Genetics in Primary Healthcare
• 29:16 Understanding Polygenic Risk Scores
• 38:45 Cancer Risk Assessment Tools
• 47:14 Implementing Risk-Stratified Cancer Screening
• 59:24 Behavior Change vs Medical Interventions
• 1:10:19 GPs' Role in Genetic Testing

Transcript

Matt Burgess: 0:01

Hello, my name is Dr Matt Burgess and I am your host on Demystifying Genetics. I am a genetic counsellor practicing in Melbourne, australia. Unlike many genetic counsellors, I've been lucky enough to have ordered and explained to both patients and ordering providers about a relatively new type of genetic test called polygenic risk scores. Today, my podcast guest is Dr Sabelle Sayer, genetic counsellor and researcher at the University of Melbourne. Join us for a great conversation about genetics in primary health care and polygenic risk. Hello, sabelle, and welcome to Demystifying Genetics. Hi, matt, thank you for having me. It's very exciting. It's good to see your smiley face. How's it going?

Sibel Saya: 0:49

Not too bad. It's been a lovely sunny day. So yeah, nice Sunday, it's been great.

Matt Burgess: 0:55

Excellent. Now I made a big assumption about you. I just thought, when you said that you know you agreed to be a podcast guest, that maybe you haven't done this much before. And then I've come across all of these episodes of a podcast called Cheers with Peers and you're all over it.

Sibel Saya: 1:17

How did you find it? Were you searching me on Spotify or something, or my name in the word podcast?

Matt Burgess: 1:25

That's exactly what I was doing. I was doing my homework.

Sibel Saya: 1:29

Well, you're a very conscientious host. Yeah, I kind of forgot about that. Yeah, so I. So that's produced by. Well, it was produced by an organisation called PC4, and I always forget exactly what they stand for, but they are the Primary Care Collaborative Cancer Clinical Trials Group, so they are essentially all about facilitating clinical trials in primary care and helping researchers like me to get funding and do research. And so, yes, I hosted a season of their podcast that was very hilariously called Cheers with Peers. I get it. So I got to do what you do and interview people who are interesting and besides me, obviously, and, yeah, had a lot to say about academia and give some sort of tips for early career researchers and you know what skills they might need to sort of survive in that academic world.

Sibel Saya: 2:29

So it was actually quite fun. Yeah, oh cool.

Matt Burgess: 2:32

But Cheers with Peers. It kind of suggests that maybe you're recording the podcast whilst drinking a glass of wine or having a beer. Were you drinking on the job?

Sibel Saya: 2:46

No, no, I think there was some really terrible like sound effects at the end where 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 it would be fun to do with. Uh, yeah, get that and get that game weeks around dirty secrets.

Matt Burgess: 3:04

I don't know now, when I have guests on I, I do like to sort of ask if there are any podcasts that they're currently listening to, and you mentioned that you really like a podcast at the moment called the rest is history. Now I'm not totally across it but I kind of thought, oh you know, maybe it'd be like a fun, sort of like bite-sized bits of history. And then I sort of looked at it and it looks like it's quite serious and long. Are they like history lessons or is it like you're studying like history 101 or yeah?

Sibel Saya: 3:51

how is the podcast for you? Well, I mean, I think the difference between having to sit into that podcast and having to study history, that it does not matter whether you remember any of it and I remember zero of it, like I occasionally throughout what I was saying, I'm like that's really interesting. I should remember that and tell somebody. But it goes up one ear, in one ear and out the other. So I really enjoy it for just the stories and you know, they talk about all different periods of history. Some of them I find more interesting than others, but you can decide which episode you listen to.

Sibel Saya: 4:19

Um, and, yeah, the very historians, which is kind of fun, but they kind of joke that they tell everything from this sort of very British point of view where the Brits have done nothing wrong, acknowledging of course that they've done many things wrong. But it's, yeah, it's a really fun podcast and I find the current affairs podcasts particularly depressing at the moment, so I'm just deciding to put that to the side and then just listen to ones about history that are interesting in passing and, yeah, while I sort of do my run for the day or something. So, yeah, but I would recommend it. There's another one in the same like suite called the Rest is Entertainment, which is also excellent, oh, thank you. Another recommendation I will recommend that there's another one in the same like suite called the Rest is Entertainment, which is also excellent, oh thank you.

Matt Burgess: 5:07

Another recommendation I will check that out Now. I met you many years ago. You were a student in the department I worked in while you were doing your Masters of Genetic Counselling and you. So you finished that degree and you did work a little bit as a genetic counsellor and then you're sort of more in academia and research now. Do you identify as a genetic counsellor?

Sibel Saya: 5:34

Yeah, but I feel a bit like a fraud sometimes. Yeah, you're right. So that was great fun doing one of my placements with you road trips out to Wollongong not Wollongong, sorry, that's um like Warrnambool and places like that in in Victoria together. Um, yeah, so I feel that because my experience as a clinical genetic counsellor was only a few years and now it was quite a few years ago I think that everything that I do is very much informed by genetic counselling and my degree and my experience and I have been working in research that is very genetic counselling focus perhaps or informed, for many years. But I think if I'm in a room of genetic counsellors, I would maybe be less likely to say that I'm a to identify as a genetic counsellor. But if I'm in a group of you know, gps, which is where my research is in genetics and primary care, you know I feel a bit more able to shout my genetics credentials. Yeah, so it depends on the context maybe, but it definitely influences what I do.

Matt Burgess: 6:44

I think it's sort of it's how you feel, as well like so if you feel like a genetic counsellor doing research like yeah, the vibes as they say yeah, absolutely, yeah, yeah when you finished your studies, you were lucky enough to move to London and work as a clinical genetic counsellor over there.

Matt Burgess: 7:09

I've got questions like how easy was that? And like logistically, like if there are genetic counsellors listening or students that are listening and thinking, oh, I would love to, you know, leave Australia and go on a working holiday for a few years, like what sort of advice would you have for them?

Sibel Saya: 7:28

I mean, I know of many Australian genetic counsellors that have done it and my understanding of the genetic counsellors the British genetic counsellors that I still keep in touch with that Australian genetic counsellors have a very good rep. So I would definitely encourage you to think about it. Logistically it was pretty easy, because our course, our master's courses, are you know, I think they're I think all of them presumably are transferable and they sort of accept them when you're working, at least in the UK UK, obviously that every country is different, but in the UK I could do that, um, I had to when I this was back in 2011, so it's pretty out of date information now but when I, I basically just tried to do that thing where you cold email people or you. The first, one of the first things I did is I presented my master's work at the um, the British Society, the Genetic Counselling Society, which has an acronym but I can't remember um, and so I tried to meet a few GCs there and then I, you know, went and I visited the particular clinic uh that I ended up getting a job at, at the Royal Marston, which is a specialist cancer hospital, um, and then they just sort of pulled me on the books as a casual staff member what they call a bank staff member, um, to start with, and then. So I just sort of tried to get my foot in the door, which in the end worked out, um, uh, yeah, so it's definitely doable.

Sibel Saya: 9:00

I think it's part of it's the the, you know, knowing somebody as usual, or just introducing yourself to someone and then asking them if they wouldn't mind you coming in and having a coffee with them or picking their brain. So then when they next have a job available, they might be able to. Or if they have, you know, maternity leave, as often happens, you know, you might be able to sort of have a step ahead when you apply, ahead, um, when you apply, and then just sort of hope because I've only started part-time and then I managed to, once they needed some more um, fte, they, they managed to pull me up to full-time, yeah, so I think it's just putting yourself out there and giving it a go, really. Um, that was my experience at least and it worked out and I was all.

Sibel Saya: 9:42

I was fully prepared to get back on a plane and come home if it didn't work out, but I was lucky that it did oh good, yes, I think it's the the a a n g c yeah, well, a s g c association of nurses nurse there. Yeah, because they used to have like 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 genetic counseling, like it's such a small field, like networking is really important. You can sort of like um, get to meet quite a few people and sort of put the feelers out there. So well, it sounds like you were 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 of accreditation part. So yeah, because I moved into research before I really started that, and I think that would have been a little bit more tricky to try and do a part over there, part over here, but I think there are still avenues to do 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 your science degree, did you think like when did you realise that you wanted to do genetic counselling? And were you sort of like most of us who kind of were like, oh, I like science, but I like people yeah?

Sibel Saya: 11:06

exactly. I know it's such a cliche, isn't it? Yeah, basically I'm not sure that I'd heard of genetic counselling until third year genetics, really in my undergrad and I thought, yeah, exactly that 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 of being in a clinic and seeing people every day and then even though in the end I didn't do that for that long, but yeah, I like the idea of combining all of those skills together. And then I worked for a year between the two degrees in a place called the Epilepsy Research Centre. That was, I think, a joint venture between the Austen and Unibel, so I got a bit of a taste 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 you thinking that you wanted to sort of move away from genetic counselling and sort of become more of an academic, or what was sort 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, by a sequence of events, I ended up working in a research area, um, that was very much to do with genetics, cancer and targeted cancer screening, which is still what I'm doing now. Um, so I got a bit of a taste of of research while I was in London, um, at a place called the Institute of Cancer Research, and I realized that I really loved research. So I loved the. I mean, genetic counseling is similar, but not to the same extent can you be constantly sort of learning and upskilling and doing a real variety of things every day. I really discovered that I loved just the process of doing good research, or the organisational side of research. I loved like data, and then I thought, well, it's probably time to move home one. But if I want to like, I wanted the 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're employed in a research job to say to your boss oh hey, I want to do this course or you know, for five days or for two weeks or 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 feelers here in Melbourne for either a job or a PhD.

Sibel Saya: 13:45

And I sort of came across this ad for the PhD that I ended up doing with my supervisors around targeted bowel cancer screening to the population, about a lifestyle risk prediction tool that we still developed called CRISP. That was around. You know, a way for the general population or people in general practice to enter their risk factors for bowel cancer, not genetic risk factors, but things like you know red meat intake, bmi, smoking, you know fruit intake, aspirin, screening history and how best to implement that sort of tool for targeted bowel cancer screening. And then I sort of got in there and my boss, my primary supervisor, was always very interested in genetics.

Sibel Saya: 14:34

He's a GP but he's been interested in genetics and has been doing a lot of work around general practice and genetics for decades. And I just kept talking about polygenic risk scores and genomics and that sort of stuff. So in my supervision meetings and I just kept talking about polygenic risk scores and genomics and and that sort of stuff, so in my supervision meetings I just talk about genetics and these, these new tests, um, and then my PhD just totally switched to that, um, which was in his interest as well, uh, but yeah, I sort of moved away from that lifestyle tool and moved it into a very thoroughly genetics PhD, which worked well, I think, given my background.

Matt Burgess: 15:10

So yeah, coming from a genetics background and as genetic counsellors, like most genetics in Australia is sort of in secondary or tertiary health care and you know like it's a specialist service and that's sort of how things have sort of evolved clinically in Australia. However, your research is very based in primary health care. So, and when we talk about primary health care, that's really with general practitioners, so like the first person we see, when we talk about primary healthcare, that's really with general practitioners, so like the first person we see when we need help with something medical usually, how can we get genetics into primary 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, super complicated. It's absolutely very complicated and I think that's what I've really loved about this is taking lots of principles of genetic counselling that we all learnt and we practice around, things like informed choice and that's like social care that is required around a lot of genetic tests not necessarily all of them, but then I think sometimes we do suffer from a little bit of this idea of genetic exceptionalism, that a genetic test just by its nature is special, which I think a lot of the genetic tests that have been done for decades in the clinics, in those tertiary clinics that you talked about, you know, are pretty intense and they are quite special and the fundamentals of genetic counselling have been built upon those principles. We have an hour or more to talk with a person about a genetic test before they do it and then again when they get their results. But the new types of genetic tests that are now coming out that are so much you know they're still fundamentally genetic. Things like polygenic risk scores that I work on, or things like pharmacogenomics they're not the same in a lot of ways. So, for instance, their you know implications for family members are much less, much lessened Often the risks that if you give a person a polygenic risk or result, it's not going to be equivalent to the risk that comes from a monogenic mutation in 99 or 95% of cases. So there's all sorts of, you know, bits of that genetic counselling process that should and will be sort of translated into primary care when delivering these sorts of new genetic tests to the whole population.

Sibel Saya: 17:54

But there's parts that perhaps that aren't as necessary, as you know, when you're talking to really high risk people in those tertiary clinics. So how can we guess to try and answer your actual original question as to how can we, I think I think we need to think about those parts that are really, really necessary, the bits that really we need to, the skills that we need to impart into people like general practitioners or even practice nurses to help them be able to administer these sorts of tests and talk with patients about these sorts of tests, to help the patients make an informed decision about them. And also, you know what happens next when they get their results and then refer on when necessary, which might happen, but it is not, you know, it's not as though we have to take, we can. We can't do this. We can't take genetic counselling as a whole and then upscale it to the whole population. That's not possible. We don't have enough genetic counsellors and in my opinion it's it's also not necessary. We just need to take those parts that are required to be to be distributed, those skills that need to be distributed to to all these different types of health professionals.

Sibel Saya: 19:07

And then it's also not just primary care, I mean, it's not just general practice. You know, primary care, as you said, is that first point of health care, but it's not just general practice. It's places like community health centres, it's places like ACHO, so Aboriginal Controlled Health Organisations, because people get their primary health care from lots of different places. So in my opinion, it's not a one avenue sort of idea. It's not just general practice, it's how do we, you know, help people get into these sorts of tests that might be relevant to them, from wherever they get that 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 highlights something that can sometimes be surprising to the lay person, because I think when the lay person or when people in the community talk about genetics, they think inherited, whereas when we talk about genetics, um, we mean to do with the genes and sometimes that's inherited, and I think that once, yeah, a big part of sort of explaining genetic tests, um, it's like, oh well, it's definitely genetic, but it's actually not we're not looking at like the inherited component, and I guess that's like like a big feature of these new sort of polygenic risk tests that are sort of becoming more and more sort of popular or talked about or available at the moment.

Sibel Saya: 20:40

Yeah, so, yeah, absolutely, and they, you know, and I guess technically they are inherited. It's just that they're inherited in a totally different way. So you know, I guess, just to explain, so, in cancer, which is where a lot of the literature around polygenic risk scores is so, traditionally, you know we might have done a BRCA test for a woman who has breast cancer and a family history of breast cancer, so looking for mutations in either BRCA1 or BRCA2. And if you carry a mutation, then all of your children and your siblings have a 50% chance of carrying that same mutation. And if you have that mutation, if you have a BRCA1 mutation, your risk of breast cancer is what? 60% to 80% over your lifetime. So they're huge, they're quite substantial risks and it requires a lot of consideration. So they're huge, they're quite substantial risks and it requires a lot of consideration For a polygenic risk score you know you're talking about for the breast cancer polygenic risk score that we're currently sort of looking at is 313 SNPs, and I know I don't need to tell you all of this, but anyway.

Sibel Saya: 21:43

So the SNPs are, you know, commonly inherited variants, that you variants, that there's 313 of them in this one polygenic risk score for breast cancer. Each of those variants only carries a slight increase or decrease in risk of breast cancer. So the idea is, if you add them all up together, you can tell somebody something meaningful about their individual risk. And tell somebody something meaningful about their individual risk. But just because I might have a slightly increased or slightly decreased or even slightly more increased polygenic risk for breast cancer, that does not mean that my sister will also have that or have a 50% risk of having the same sort of risk, which is how it is for a BRCA mutation. So it's the way this is. Yeah, it's really interesting because the way that we technically think about the genetics and inheritance is really really different. But then when you're talking to an individual, you're right that these ideas of inheritance are sort of fixed, you know, for a lot of people.

Sibel Saya: 22:47

So, and we find this when we are, you know, we're trying to expand a lot of the work that we currently do to think about how perhaps different people from different cultural backgrounds also think about genetics and think about inheritance and think about cancer.

Sibel Saya: 23:07

Because when we do our trials for PRS, you know we often this is a problem across all clinical trials where you often have exclusion criteria for people who cannot speak English.

Sibel Saya: 23:20

But even if you were to be able to translate all of your documents and help somebody, make you know, give informed consent to participate in a trial in a language other than English, when we start talking about things like genetics and disease and inheritance and family, there's cultural differences as well, and you know this hasn't been explored as much as it could or should and we are still really early in our work in trying to look at this, but we're hoping that that's another aspect that we can include in our research.

Sibel Saya: 23:52

You know, if you think about some of the big cultural groups even in Melbourne so people of Chinese background or Vietnamese background or Indian background, or you know it will be different for everybody. And if we're going to have programs where we make polygenic risk scores available to the whole population, we need to be thinking about, well, how does all of the different people think about them and how can we best help them make the best decision about whether they want to do one of these tests or not? So there's lots of layers and layers 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 when talking about polygenic risk score. It really is. Tractgene is transforming genetics database management with a clinician-focused electronic health record system From pedigree drawing to patient data management and reporting. Tractgene streamlines your work, letting you focus more on patient care. You can see it in action by requesting a free demonstration at trackgenecom, and for academics and university students, trackgene's pedigree drawing tool is available at no cost. Explore the possibilities at trackgenecom. That's T-R-a-k-g-e-n-ecom. You know, a statistic I saw the other day that sort of surprised me was that australia and new zealand actually have the highest number of bowel cancers in the world yeah, yeah but I guess the flip side or the positive part of that is that about 95% of people survive their diagnosis, so that's reassuring.

Matt Burgess: 25:36

But then that brings up the question of how do we find the people that are at risk and then how do we manage that risk. And so you sort of mentioned your work with CRISP, manage that risk, and so you sort of mentioned your work with CRISP. Um, was the idea that people would sort of, you know, go online by themselves and sort of do it by themselves, and or was it that they sort of do it when they'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 stratified population cancer screening. So for bowel cancer, but now we're also expanding into other cancers, so breast and prostate and melanoma, and the idea is that one you can do a test or use a tool like CRISP to assess your risk, to determine what cancer screening you should have, and then there's the next step of helping somebody make the decision to actually do the cancer screening that's appropriate for their risk. So for CRISP, the way that we tested it in the trial, the way that it's currently set up, the CRISP tool is designed to be used with a health professional, so that could be a GP or it might be like a general practice nurse. There are other risk tools for other cancers that are publicly available. So there's one called I Prevent for breast cancer. There's a couple of melanoma ones that are, you know, public facing and the idea of CRISP.

Sibel Saya: 27:16

At the moment, some of the work we're doing is trying to do some usability testing and sort of look at if, if this was to become a publicly facing resource where you could just go in and fill in your own information yourself. What do we need to do to make that easy for people to do, to make sure that they're answering the questions correctly, because some of them are sort of medical questions and then you know what happens next. You know, trying to make sure that it's clear that, okay, now you can take this to your GP or whoever it might be to talk about what screening you should do. So there is a bit of work that we're currently doing to increase the acceptability and usability to the general public, but then also make sure that it's clinically safe as well. You want to make sure that you're giving the correct information to people using that tool.

Matt Burgess: 28:08

Something that I find really interesting is, you know, as a genetic counsellor and I've sort of mentioned this on other podcasts um, you know, sometimes we're involved with, like clinical research and um enrolling people into clinical trials. But going from like a phase one trial to like something that's clinically available can take decades. And you know, like it's definitely not a fast process. And you know, and it's important that um it's not a fast process, you know, like that it's rigorous and there's evidence that you know we're helping and all of that kind of thing. I I know in my practice in Australia we have access to a clinically available PRS test. But I was just wondering, like, from your point of view, like you know, when will we be able to go to our doctor and say, oh, I read in the paper that there'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 a couple of things that we still need to know the answer to. So there are some really big trials in the US and in Europe that are looking at whether giving, for instance, a woman her polygenic risk score result for her breast cancer risk and then amending her screening based on her PRS risk, whether that actually picks up more cancers early, and also there are minimal harms from that in that when you reduce a woman's risk, reduce a woman's screening, if she's at lower risk, then you know you're not reducing screening for the wrong people. So there's a few big trials that I think we'll be reporting in the next couple of years and I think that is a big bit of evidence that we need. I think you know there's been all sorts of talk about whether we need to do similar trials here in Australia. There's been all sorts of talk about whether we need to do similar trials here in Australia. I'm of the opinion that those sorts of trials are very big and very expensive and take a long time, and I'm not sure that you really need to wait that long to do an Australian specific trial. I think that we have good enough sort of modelling techniques that we can extrapolate results from international trials in places with similar healthcare systems for us to sort of know the answer to that before without having to fork out all that time and money to do an Australian specific trial In the meantime.

Sibel Saya: 30:45

You know it's really as you said there is a really long sort of evidence to practice gap. You know there's lots of numbers bandied around. I think one I've heard recently is 14 years or something that it takes to implement a proven health intervention. Obviously that is too long. So a lot of the work that we do is around that translational evidence. So you know this. The idea now is that you need to be doing all of this research in parallel. While you wait for those big trials to figure out the efficacy of a particular new intervention, you need to also be thinking about well, how did this new intervention fit into our current healthcare system? How can we implement it? What are the things we need to think about? Um, what is the acceptability of the public of this sort of new intervention? Are people actually going to do it? Are they going to follow your screening advice after you give them a risk and therefore change the screening frequency or the the starting age of their screening. So that's a lot of the work that we do. That's really crucial and I think, I think I feel like we are getting there, but there's still, you know, a lot of things to do.

Sibel Saya: 31:56

You know one of the bits that is missing, the evidence that's missing is around, as I said, you know culturally and linguistically diverse communities and how you know you might ensure that they are able also, and find it acceptable as well, to do these sorts of tests, of course, our aboriginal and torres strait island populations, where you know there is, there has been a lot of sort of misdone genetic research in the past in in those communities and we absolutely cannot repeat those mistakes.

Sibel Saya: 32:27

So you, you know you need to be bringing the whole of the country along with this sort of journey and I think there is a real impetus from the government to make sure that they are gathering the evidence, funding the researchers to do this work, to develop the evidence and then implementing these sorts of things in a timely manner.

Sibel Saya: 32:50

So the Australian Cancer Plan that was released by Cancer Australia this year, or perhaps last year now must have been this year has a real focus on risk stratified cancer screening and trying to ensure that you know that is happening in a timely way and they have a real, real, real focus of starting from scratch, like starting now with aboriginal communities um discussing with them what they think about all of these things, not just screening but all aspects of cancer care in australia, um to make sure that you know we're bringing everybody along on these sorts of of journeys. So I don't think that I know the answer to your actual question, which was like can you go to your doctor and ask for this? I mean, I can't imagine it's. If it's going to happen, I imagine it'll happen in the next five to ten years, but it's. You know these things are hard to predict.

Matt Burgess: 33:44

Just, I don't know if you noticed, but, um, as you were talking there, I could hear someone knocking at the door. I'm like what is going on? And my dog, banjo, was at the door.

Sibel Saya: 33:56

So I was wondering, but I thought I'd just keep talking. I thought it must have been some 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.

Matt Burgess: 34:15

So that what your sort of last response, you know it sort of made me think about healthcare and hang on, what was my point?

Matt Burgess: 34:31

Um, as genetic counselors, you know, we like when we think of public health the whole idea is sort of stratifying people into different risk categories and seeing what people are at risk of and then sort of doing something about that. You know whether you know it's kind of, yeah, an intervention, whatever that is, and I don't know if I am sort of making it too simplistic, but, like with my sort of experience in PRS, it kind of seems like there are two groups of sort of interventions. Um, so, like with breast cancer or bowel cancer, like if someone is seen to be, or found to be, at increased risk, there are things like colonoscopies or MRIs or mammograms, so like sort of medical tests that you can do that sort of gives good information. But then there are sort of like these behavioral kind of like oh you, you might be at increased risk of heart disease or you might be at increased risk of atrial fibrillation, like you need to eat better or you need to lose some weight or I don't know.

Matt Burgess: 35:51

In my mind I see those as a very different intervention like have you guys looked into research 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 a low-hanging fruit. I mean, and and and still you know our um uptake of the bowel cancer screening program. The population program is only 40%, so that's, you know, pretty low. It's so much harder to change people's behavior in terms of those things like eating better or doing more exercise and all of those sorts of things. So we in some ways we focus on things that are a little easier to help people to do, like their cancer screening. But I do think there's still a utility in, you know, providing people those risks. You know there's, there's more literature now around the idea of personal utility, about the information that comes from polygenic risk scores, which I think is a really interesting point. You know this is information that people perhaps have a right to have about their own health. But then I also think that if you know that somebody is at particular risk of atrial fibrillation or you know, coronary artery disease, then perhaps your efforts to help them change those behaviours might be a little bit more, you know, rigorous. So those resources to help people make those healthier decisions for like a better way of expressing it might you can sort of condense them to the people who really need it. But it's still not. You know, it's not going to be a silver bullet and I think that the evidence you know there was a lot of hype around originally, maybe 10, 15 years ago, that if you provide people their individual risk, then their behaviour will magically change and they'll, you know, then they'll start going for runs and they'll eat lots of vegetables and they'll do all their cancer screening and I think that the boat has well and truly, you know, say the ship has sailed on that.

Sibel Saya: 38:00

We know that just giving somebody their risk is not going to change their behavior.

Sibel Saya: 38:05

So that's why the way we think about it is that the risk giving somebody their risk is only one component of this intervention. You know, it's the opportunity. So when somebody comes in, you know in the hypothetical future, and says, hey, doctor, can I get my apologetic risk score for bowel cancer, you say yep, let's do that. Then we can talk about helping you do that FOBT that's been sitting in your bathroom for the past six months, or get you into a colonoscopy. Or how about I just we call the breast screen Victoria now and just make you an appointment now? So it's that it's the opportunity to discuss more about the cancer screening that that person might be due and the risk. In my opinion even though I'm a genetic counsellor and I talk about risk all day, every day is secondary. It's the thing that tells you what that person should do, but I don't think in and of itself it's going to change somebody's mind about doing the screening and 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 you might have like a couple of things on your list that you want to discuss. How do you, how can they sort of 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 the practice staff that we work with in our research because, yeah, they are so busy they are swamped ears. We all know how difficult it is when you go into a general practice. Sometimes it's a little bit of controlled chaos. But they are always so interested in our research and they want to upskill. And then when we ask them specifically about these sorts of things you know, where do you see this sort of test fitting in our healthcare system? Do you see it as the remit of you as a GP? They say yes. They very firmly say yes, because they feel that this is. They talk about risk all the time, they assess risk all the time. They have discussions about cancer screening and preventative health all the time and they all say, as usual, they need a little bit of upskilling and a little bit of help and a bit of training and they need to know where to go when they can't, you know, answer a particular question or when somebody is at a particular level of risk and you know where to refer them on to. But generally they see this as absolutely in their wheelhouse and I think this is and I sort of think a lot about.

Sibel Saya: 40:29

And there's other experts in our, you know, in our community, in our research community, that do a lot of work around education, around apologetic risk scores.

Sibel Saya: 40:38

But the way that I think about it in this general population setting is that it's all about scaffolding.

Sibel Saya: 40:44

So, you know, gps assess family history all the time and they assess risk all the time.

Sibel Saya: 40:50

So when you're doing education about apologetic risk scores, the fact that it's a genetic test, you know it's important, but it's a little bit by the by you scaffold on top of what they already know and then tell them how this is similar and how this is different and then hopefully, with that sort of education, they are then enabled to go and have those discussions with their patients. So I really think that there is a way forward in general practice with this. Of course, you know you need to work out things like Medicare item numbers and you know there's already a Medicare item number for GPs around preventative health for people who are aged 45 to 49. So perhaps this sort of screening you know pre-screening risk tests could sit within some sort of Medicare item number that's similar to that, so GPs can actually bill for this and then they might be more likely to take it up even when it becomes available. So I do think, despite the challenges that GPs face, they really do see this as something that could work in their setting.

Matt Burgess: 41:56

And have you seen the medical curriculum actually change like? Is it something that across Australia and if not the world, like more? The medical students are learning more about genetics and genomics and polygenic risk score.

Sibel Saya: 42:14

I'm not sure about the medical curriculum. I do know that the RACGP so our College for General Practitioners have a really good resource that has a name, that's something like Genomics and General Practice, but I can't quite remember and that was my boss, so his name is John Emery, an academic GP, and so he was part of the team that authored that and there is a lot in there around what tests currently are available. You know what tests can gps order genetic tests. The gps can order what uh genetic tests might their patients have had from other health um specialties, and then what is on the horizon, what might be coming. So that's a really good resource and I think there is more, more and more awareness about these sorts of new tests. But I couldn't answer the question about the actual medical curriculum, but I imagine, yeah, it's probably on its way.

Matt Burgess: 43:12

Fingers crossed. Well, thank you for such an interesting conversation. Thank you. It has, yeah, it's sort of opened my eyes to a few different things. It's like, oh, wow, like this is like. Every time I talk about polygenic 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 so much for your time and, yeah, we wish you all the best. Thanks, matt. Thanks for having me.