Unraveling Polygenic Risk Scores (PRS) in Genetics. Demystifying Genetics with Kylie Morgan

G'day. Thanks for tuning in. This is Demystifying Genetics, a podcast where I, Matt Burgess, speak about all things clinical genetics.

As a genetic counsellor, I have been lucky enough to have had experience with a new type of genetic testing called polygenic risk scores in both the United States and Australia. Today, my guest is Dr. Kylie Morgan. She is a genetic counsellor in Melbourne. Join us for a great conversation where one of the issues we discuss is polygenic risk testing in the Australian context. A big thank you to my editor Angelica and to our main sponsor TrackGene.

Hello Kylie and welcome to the podcast. Hi Matt, thanks for having me. How are you going? Yeah, good. I think I just told you just got back from the gym so the endorphins are going. Excellent. That's what we like to hear. Now, first things first, how is your beautiful doggie going? Geoffrey is doing very well. So Matt and I met in Europe a few years ago and we bonded over needing to bring our doodle dogs over from respective countries and navigating the whole importation process.

So yeah, Geoffrey's doing really well. He spends a lot of time with my parents though, because I'm in the office so much. but he is in love with my dad, so he's living his best life. Oh, excellent. And you don't think he was too traumatized by the time that he spent in quarantine? He's the exact same dog. He didn't seem to have any adjustment period. They say that dogs live in the moment, and I think for him, he very much does.

Good. As yours. Yeah, so Banjo is very well. I think that he's the same. Like maybe his eating habits were a little bit different for a couple of days, And then about on day three, he was exactly the same. And I thought, oh, he's back to normal.

But I was kind of thinking about it. Maybe this is a terrible segue, but I kind of think what we went through with our dogs spending time in quarantine is a little bit analogous to how I see genetic counseling sometimes. And what I mean is, you know, like we're both experienced genetic counselors and we're empathic, and we are client-centered, but sometimes it's like you don't really get something until you go through it yourself.

And, you know, like I had a dog, I thought about quarantine and I saw, you know, Jeffrey, your Jeffrey getting out of quarantine and, you know, I thought I knew it, but it wasn't until I was actually there having waited a whole month to pick up Banjo and pick him up that I was like, oh, wow, this is much harder than what I expected.

And I just think I'm sort of grateful of experiences like that sometimes, maybe just to put myself back in my place a little bit to kind of go, it can be really hard for clients sometimes. Yeah, no, absolutely. And I thought this was a tenuous segue, Matt, but I completely agree. And I think about this a lot, actually. I think our use of vocabulary and, you know, we learn what words mean through

society and through how other people have used it. But for me, thinking about empathy, I think a lot of people think that it's really easy to empathize with someone. Oh, it's really easy to put yourself in someone else's place. But actually, until you've had something semi-similar happen to you, how are you ever really going to know how that feels? And I remember when I came into genetic counseling a little bit sort of later in my career than others, I was a research scientist.

And so when I was doing my training, I was like 10 years older than, you know, all of the recent grads. And I remember my supervisor, my consultant genetic counselor at the time was like, that's a good thing, Kylie.

Like you're coming in with all of this world experience. And actually, I now realize how right she was that, you know, I've had breakups and I've had losses of family members and health issues and all of these things that while they're not the exact same experience for the patient, but I actually get what they're telling me and I can semi put myself and actually properly empathize. Uh-huh. And was that a concern for you when you were starting your genetic counselling studies?

Yeah, I think it's, well, firstly, coming from science. And I was a lab-based scientist and, you know, your whole world is meant to be logical and objective and, you know, you're not, you know, emotions don't come into the work. And then having a complete, you know, 180 and trying to really build this skill set and actually tap into those more empathetic and emotive aspects of your own personality that you'd sort of shunned away for so long. That was a bit of a worry.

That was where I really felt my skill set needed to develop. But also, you know, you come in and you've, as having a career change and you feel like you're, you know, whole sort of part of your life is further along, but also you're a lot behind everybody else, like your stages of life, if you will. Okay. Yeah. So what did you do your PhD in? Oh, so specific. Officially, it was, I suppose, immunology, photobiology, but I was looking at.

How vitamin D and ultraviolet radiation impact the immune system with the theory being, so we know that UV exposure, when we go out in the sun, we know it helps the immune system.

So, you know, you've got your psoriasis treatments and eczema treatments, but all of the scientific data, we can't disentangle whether it's through the vitamin D pathway because UV exposure and the particular part of UV, the UVB rays are what cause immunomodulation but also cause vitamin D. So we couldn't figure out, is it just vitamin D? Are there other pathways that are definitely being activated? So is UV beneficial and vitamin D supplements aren't good enough?

So anyway, I did a clinical study with a patient cohort, either just taking vitamin D supplements or those getting UV exposure to kind of supplement to the same amount to see if we could see any sort of robust changes. We couldn't. That doesn't mean that there isn't a difference, but it was quite a small sort of pilot clinical trial. Okay. So, very science-y. Very science-y. Maybe there is a little bit of genetics in there, but sort of quite far removed from genetic counselling.

Absolutely. Yeah. It was a bit of, I suppose, the overlap for me was kind of patient communication. So I was basically everything for this clinical trial. So I was doing the patient recruitment, consenting. I was there for their treatments, taking their bloods, their skin biopsies, all of those sorts of things. Quite a few anxious patients actually that were using my clinical trial to get over their fear of having their blood taken. Okay. Were you good at taking blood? Apparently I am.

Yeah. You kind of learn as you go. And also that's something that, because I was working in the NHS, a lot of the census over there, you need to take blood as a genetic cancer because of the peripheral clinics. So it came in handy. Lovely.

So, yeah, I mean, one thing that I really wanted to sort of talk to you about today was what you see as like the big differences between genetic counselling in the NHS and then genetic counselling back in Australia. Because, you know, one thing I've learned on this podcast is it's amazing how similar our experiences are all over the world and how similar genetic counsellors are, even if we're, like, different backgrounds, different countries, different languages, different religions.

But at the same time, yeah, there are some differences. So, yeah. I think the thing that struck me the most recently, when I started working here. So I work predominantly in the cancer space to do some neuro and a bit of general stuff, but predominantly my sort of, probably what I'll talk about probably applies more to cancer genetics. I found firstly, trying to navigate the funding situation of having a federal and a state government and how you tap into the funding, that's wild.

But secondary to that, the NHS has national guidelines. So you've got equity of care for patients, everybody that is presenting to a clinical service across the country is accessing the same type of testing, the same panels, the same, yet they're being offered testing based on their presentation in exactly the same way. Whereas in Australia, it's a little bit more, I don't want to say loosey-goosey, but everybody has a little bit of a slightly different guideline.

So patients aren't necessarily getting the same care. And I think it's, you know, there's a pro and con to both of those things. I think, you know, in Australia, you've got a bit more clinical judgment and a little bit more ability to kind of see the whole picture of what might be going on and go, oh, maybe they don't quite fit the clinical guidelines. But actually, I kind of feel like we should be offering a test for whatever reason.

You know, that sits really well with me. But at the same time, you fall back on equity, which is one of the NHS principles. And that doesn't quite fit. So I found it really difficult, I suppose, morally and conceptually moving here because of that. And then I think also because there are no national guidelines, I think that genetic counsellors in the workplace lean more on the consultants and they have less autonomy in their work.

Wow. Okay, that's big. It's funny because before I went overseas in 2019. You're right, we have a federal government here with a federal Department of Health, but most healthcare in Australia is delegated to the States. And, you know, like if someone has a particular family history and they see genetics in Perth and then they see genetics in Adelaide or Melbourne, wherever. Most of the time I think that they would sort of be treated the same. But I guess there are differences.

And I didn't really sort of appreciate the difference between the states or how much power the states had. But I guess that was something that we saw with COVID, how much power the states in Australia actually had. And, yeah, I mean, even though we're both overseas and sort of observing from afar, I know that was sort of something that surprised me.

But do you think that the system is kind of working okay or do you think that we really should be working towards having some sort of national guidelines and could we have national guidelines in a state-based system oh god that is such a big question that i die again pros and cons to different approaches and i don't think i know enough about the way that different states work and again the funding allocation the actual impact on the patient to know what's right and what's wrong in this context

but I do think it's tricky when you look at so in the UK we'd call it postcode lottery and that very much feels like what's happening here and maybe less about the. City hubs but about the regional inequalities and access as well so obviously you know you're in a regional service, you're probably going to be seen by Peter Mac, Monash, you know, the Austins are the big services anyway.

But I don't know what's going on in the other territories and states and whether that equality is also happening there. I think equality is the pinnacle of healthcare in a lot of ways. You know, we should be treating everyone as equity rather than equality is probably what I should be getting at. And if we're not all treating patients the same way and if you're living in a different state or a different area but you're not accessing the same care, why are we the same country? You know?

It feels very – I think the biggest thing since I've been back here, it feels like –. A bit of the U.S., of how, and you probably see that, of how the different states really do act independently. And they have a very different political kind of flavor to them, if you will. Uh-huh. Yeah, something that I've sort of noticed since being back is sort of their ambiguity in reading, like for example, like Medicare guidelines. And I think that is meant to be quite clear.

So then it is equal and equitable across the country. But in reality, I think it comes down to the clinician or the doctor's sort of level of comfort with interpreting different things. And I've seen some doctors that are a bit more conservative where they'll say, no, this patient doesn't meet this criteria and I'm not signing off on it. Whereas other doctors are like, oh, well, no, I think they do, or, you know, that's not what they meant, but I'm happy to kind of sign off

on it so they can get that. And it's like, oh, okay. It's not as clear cut as what I originally thought it would be or should be. Yeah, absolutely. And I don't know if you've been, I'm sure you have been cognizant of the recent MBS change for BRCA1, BRCA2 testing in breast cancer patients where they might be getting PARP inhibitors. Basically, it's the whole sort of premise of that, the new MBS item number. And we've had a lot of discussions as a team of, you know, what does that actually

mean for us? Is that our responsibility as the geneticist, or is that sort of more focused on the oncology team? And sort of what we've, come to is that seems to be around if the oncologist thinks that this patient is going to be able to access PARP inhibitors, that's kind of the, I suppose, the bottleneck. And that's the thing that we should be focusing on. If they're going to be accessing PARP inhibitors, then yeah, of course they can have a BRCA1, BRCA2 test.

Fine. Rather than they should have a BRCA1, BRCA2 test and then we'll figure out whether the PARP inhibitor is a, you know, so it's sort of working backwards in a way. But what you were alluding to, Matt, is exactly the concern of, well, we don't know what the oncologist is going to say. We've had referrals being like, oh, this person's had breast cancer five years ago. They could be eligible for PARP inhibitors. Well, they're not taking chemotherapy anymore.

What's going on? So it's like, where are the checks and balances, I suppose, around some of these guidelines? Yeah. So I work at the moment in a small private clinic and I think Like, you know, these conversations that I've been imagining the big clinics having, I feel like I'm missing out or I'm a little bit envious.

I'm like, oh, I wonder, yeah, I really wonder what that conversation is and like what people are sort of, you know, what the consensus is. Because, you know, if we take a step back, we know that most of the time breast cancer doesn't have a strong inherited link. But we know for some people it does. And then there are these new types of medicine called PARP inhibitors that can be very helpful, but it only helps in the people that have a genetic type of breast cancer.

Yeah, it's just like, you know, one of the questions I had was, yeah, if someone was diagnosed a while ago, meaning like years, but then their breast cancer is relapsing, well, then maybe they then would go on to chemo. So then maybe it would be helpful in that setting. But yeah like who yeah who makes that decision or where does that come about.

It's tricky and so yeah some of these guidelines are I don't know if they're deliberately written a little bit woolly for the interpretation or not yeah I think they are because you know in the past there have been some sort of guidelines that have been so specific that when a new class of medication comes out or if something changes, people don't meet the criteria, so then they have to rewrite it.

So, I don't know. My sort of feeling is they've made it a little bit broader to sort of include more people this time. But I'm not sure. That makes sense. I would hate to be a policy writer. And particularly with how quickly things are changing in the genetics and oncology spaces and having to constantly go back and rewrite. So I can see that perspective, but it does make it tricky when you, again, you're thinking about equity and what's the patient actually getting.

Yeah. Yeah. And so I know that we've got a conference coming up, the psychosocial aspects of familial cancer. Is that a conference that you've attended before and are looking forward to attending this time or do you have some involvement? What a great plug, Matt. Yes. I've never attended before, but I'm on the local organising committee.

So yes, I do have, I do think it's going to be a great conference, Matt. I didn't actually realise you were on the local organising committee. Great. That's a great question I came up with.

Yeah so really looking forward to it we've just got some of our invited speakers locked in so we've got steph archer from the uk um and a few others who really i suppose i think the exciting thing about this conference is i think that this is the meat of what we do and what really sets us apart from other professions in genetics and i think that you know there's always this conversation about genetic counselors and you know what is our role and how do we define ourselves

and how do we basically future-proof our job, you know, and, you know, is AI going to take it? I think it's for literally everybody in the population. But this is the meat of what we should be focusing on, I think, is our psychosocial skill set, you know, what value add is the patient getting from genetic counseling, but how are we actually approaching that and how are we improving our skill set to better match the patient's needs?

And so having a conference is just really focusing on that aspect, I think is, you know, exceptional. And I guess you agree. I think at this stage, abstracts haven't closed. So maybe, you know, people have still got time to get some things in and maybe you don't have a good sense of this yet.

But there really, at conferences, there does seem to be a big sort of variance between people that are 100% researchers and, you know, maybe have an academic qualification like a PhD and they've got experience in, you know, qualitative research or psychosocial research down to someone who is working full-time in the clinic who, you know, probably has a master's degree, but maybe not as much sort of, you know, like research methods experience.

Do you think it's important to sort of get like representation of all of that kind of stuff? Yeah, absolutely. I think there's so many things within that.

Firstly, if you look at the scope of research and you've got people who are, you know, full-time academic researchers and they can do these massive projects over years and come up, you know, with these massive outputs, of big cohorts, which is really helpful for us to get an idea about, say, I'm going to name, you know, Laura Forrest looking at the sort of psychosocial impact of having a questionnaire.

So her poetic study before and after your pre and post test counseling sessions and whether that actually helps clinical care excellent like a great intervention but on the flip side if you only have something that is that big scale then you're missing the day-to-day interventions of like you know what's the impact of sending out a moderate risk breast cancer letter to patients is that scary for them is that not it's something that's happening

and our practice is changing on a really rapid basis where you've got master's students who could integrate that into their practice, or you've got a full-time clinical genetic counsellor who can add those bits onto their workload. And so I don't think you need to have a PhD or have a huge amount of qualitative research behind you for you to be able to make an impact within the psychosocial space.

You know, one thing, maybe it's just an obvious thing to say, but I, you know, it's really important to go to conferences and to, you know, hear the latest research and sort of, you know, it's a good way to upskill and sort of tap into the research that's going on, especially if you're not sort of from like a strong research background.

Do you think that in, you know, one of the things that I talk about or think about is our Masters of Genetic Counselling course and, you know, A master's, everyone sort of has an idea that a master's goes for two years, but it's kind of like as the genetic counselling world is growing and our amount of genetic knowledge is growing and the different genetic technologies is growing, it's like what we need to teach the students is growing, but the degree is staying the same.

Do you feel like the master's students are kind of getting enough exposure to research methods or is that something that they can sort of pick up on the job? It's a tricky one. I think, I mean, I don't think a master's level thesis is going to equip you with all of the research methodology that you would need. But equally, I don't think a PhD necessarily does either.

They become so focused that you become a specialist in this tiny little niche that if you want to open yourself up to something else, then you have to kind of relearn and it's a constant process. So, for example, again, going back to my PhD, very quantitative data analysis. And now I'm swinging back towards some qualitative. I did qualitative in my master's and I'm now embedded in some of the research projects happening in my centre.

And so even though I have academic degrees, I'm still having to learn and having to figure out what the questions that are that I need to ask and how to build that skill base. So I don't think a master's is ever going to do everything you need.

And equally some people just not into research as well and that's absolutely fine so I think, the masters as it is gives you a snapshot of what you need to be a genetic counselor and it's up to you to continue to grow your expertise whether that be in research but also if we think about psychosocial counseling what we get taught in the masters is like the bare basics of what you might want to think about and apply to a patient and as you go through your career,

you start picking up other methodologies or other ways of thinking or theorems that you can apply to your patients which you would never have the time to use in your masters firstly from I think you know you can only take on so much information at once but I think everything I learn from doing so if I don't have a practical application it's in one ear out the other and so for research I think it's the same you need to be able to have those projects and build that skill set.

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So, I mean, one thing that I know about you or one, you know, conversation that we've had is sort of how we could enhance the psychosocial training in our, you know, genetic counselling courses and maybe sort of learn more about therapeutic interventions. If you're learning by doing, do you think that the role plays that we had in our course, I'm assuming you had role plays. Yes, I think we all had role plays. I think we all have the trauma of the role play, Matt. Yes.

How do we increase that or how do we make our students better at that within a master's program?

I actually don't know whether it's possible within the master's program because I think I feel that the role plays are so artificial, that I think it was helpful for me in like getting used to kind of saying the things I might need to say or trying to pick up on cues but actually it's until you're with a patient and you've got that real life interaction and responses I don't I think that that's when you start really learning and I don't know whether the master's program

here was the same but we had actors rather than other students and you know you'd ask a question and suddenly they'd be going off on something that just didn't it didn't feel congruent with what we were talking about and then trying to figure out where they were trying to lead you it just yeah it did it felt very artificial and so i think for me again yeah role play is possibly not but i think. Masters is one thing, but you're going to continue to learn and grow throughout your career.

And so supervision is one way of unpicking what might be going on and applying theory. But I think continued psychosocial training as we go along, I think, so that you can pick up those theories, go see a patient, do a reflective piece, or just think about it, how it applies.

And then that's how, at least that's how I've grown. and I think that that is one advantage of our board certification program that we have here in Australasia maybe compared to what they do in the United States where you know maybe it's easier logistically in the United States everyone just sits in exam you do it on a computer it's multiple choice but I feel like yeah for us sort of down under we do our course and then we get a job.

And then once we're sort of working, then we start working on our accreditation. And then that's sort of a process of where we can sort of integrate some of the theories and practice and sort of reflect on it. And hopefully the aim or the goal or the hope is that it makes us better genetic counsellors. I'm not sure if that's true. I mean, I want it to be true.

Yeah. I don't know if you've got any thoughts on that uh always man i've got many thoughts the process in the uk is almost identical i feel like they've been mirrored off each other so yeah i remember going through writing the reflective pieces and looking in the literature and seeing what applies my issue with the certification process is sometimes the focus becomes more on the academic writing than it does on the actual reflection.

And I do feel that, you know, you've proven that you've done a master's level degree. Shouldn't it be more about the humanization and the process of reflection rather than the actual academic writing? That's one thing I'm going to throw in there. But I think that the certification process is one thing, but that your learning shouldn't just stop after that.

And I think sometimes people feel that it does, but also, you know, the ability for us to continue to have ongoing training seems to be laced on the goodwill of our community of people going above and beyond so doing the agsc webinars and the statewide webinars that we have of someone taking a bit of extra time out to say oh what's something that people might be interested in and i'm going to tell them what i know rather than maybe us as a community going well what

are some gaps that we need to fill and like what is our actual theorem How do we apply counselling theorem as a genetic counselling profession? It's all very piecemeal. Hmm. It's hard because, I don't know, I feel like I'm such a qualitative person, but then when it comes to our board certification, I really want a good quantitative person to come in and measure the reliability and validity of the process.

Like we kind of think that it is reliable meaning that it is the same process for different people but I question that and then the validity it's like what we think we're measuring is it actually what we are measuring and you know I am a positive person and I like to think that the process is good like I mean I don't think it's doing any harm so maybe the opposite is true that it is doing some good.

But, you know, I think the aim is that it's making us better genetic counsellors, but I'm not sure if there's sort of evidence for that. I feel like we feel like there is. I don't know. Yeah. I know. It's one of those tricky things of how it's, you know, cause and effect. How do you measure that? You know, what are the outputs that we could measure that for? I suppose my sense of things is as much as I hate to admit it, every time I've taken the effort to do a reflective piece.

I've gotten so much out of it I hate saying that but I think it is a really good process of reflection and growth and learning I suppose the thing that, I find tricky about certification is how much extra time spent, again, out of goodwill, over and above your nine till five. A lot of people going through it are probably juggling three part-time jobs because let's not even get into the funding for genetic counselling positions in Australia is wild to me.

Plus probably, you know, parental leave and all of these different things. This is an added pressure, which you don't necessarily have with other allied health professionals having to justify their ability to do their job. And while I think reflection and proving that you are a reflective practitioner is, you know, I think it's essential, does that actually tell us that that person is competent at their job or are they just good at writing reflections, you know?

Yeah, I guess that was my point. And I guess on that point, it's been encouraging to see that in Victoria at the moment, and I'm speaking as a complete outsider because I'm not employed by the Victorian Department of Health, but there are sort of negotiations with the award at the moment. And I think that the genetic counsellors who are working on this process have taken some of those things into consideration.

So it's actually embedded into the award that there will be time off or, you know, time set aside for people, you know, to write up cases or, you know, to devote to, you know, becoming certified. There's a pay increase for people that are certified. And so I feel like that was a really positive thing. And if... They are successful in Victoria. That gives a good precedent for other states to use as well.

But I think you're right. It is like in Australia, we are comparing ourselves internationally, which I think is a good thing sort of as a genetic counsellor. How do we compare and how do we measure ourselves? But maybe we should be comparing ourselves to other allied health professionals and sort of, you know, what they do in their training.

Because a lot of people, they just finish the degree and then that become, you know they become whatever they've studied but yeah tough issues it's it's a tricky one and i'm glad i'm not on the certification committee take my hat off to everybody that puts their time and effort to yeah to to marking and making sure that we are yeah i suppose a robust, profession that is reflective and you know we can prove our worth in a way One

of the other things I wanted to talk to you about was polygenic risk scores. I have interviewed a couple of other people on this podcast series about PRS and they're sort of more academic or sort of working, not sort of clinical genetic counsellors.

But what is your take as a clinical you know someone who's in clinic speaking with real patients about sort of this idea of personalization of risk is this because i've told you i'm working on the primo project i mean it could be i couldn't remember what i told you so it's interesting and i suppose if you another another person for you to get on on your podcast might be sean lamb who is a PhD student at Peter Mac and so she's actually she's doing qualitative research looking at

how patients have actually integrated this kind of information into their care model and you know what it's been like having this extra bit of personalization for them but my perspective from delivering a lot of these results partly to patients that are receiving their predictive test results at the same time, but also to patients that, you know, a year, five years ago, maybe, got their predictive test results, got their sort of blanket,

you know, you sit in, you know, you've got a BRCA1 mutation, you're 70% risk of breast cancer, this is it. And then coming back and having this extra personalization. Everyone's been really interested, but the. The main kind of, I suppose, response has been, well, I'm not going to change what I'm doing. This is really interesting and either validates that, you know, I went and had my ovaries removed because it says that I'm still in this risk bracket.

Or it's really actually, it's comforting to know that I have my lower breast cancer risk than I thought, but I'm still going to go ahead and continue on with the screening that I was at. But it's, you know, it gives me a bit of reassurance that the polygenic risk score has actually reduced where I thought I was sitting at. So I think there's utility. Can I ask a question at this stage? Yeah. Is the opposite true? Like in women that tested negative to a strong inherited

link, but then, so they thought that they were at population risk. Yeah. So those women that are then finding out that because of their polygenic risk score that they're actually higher, is that changing their behaviour? That's a really good question. So I've only had one patient that I've had, that I've given back that kind of results. It was patient BRCA1 or BRCA2 mutation family history.

They were negative, came back in and I said, actually, your polygenic risk score for breast cancer is actually pretty high. So based on that and your family history and all the other factors instead of being the population risk that we thought you were at you're now in the moderate risk category and I was like how does that that feel that you know and the person went oh well I thought I was at a 70 percent breast cancer is the last time I saw you so I'm still winning and,

I was like, it's fair. Yeah. Her anxiety and her worry was so high that anything else is still going to be a big win for her. So she in that moment was unbothered, but also we only get a snapshot of where the patient's at and that initial reaction. And we know that things change and settle over time. And if I called her up now and said, how are you feeling now that we've told you you need to have additional screening, that you are actually at a slightly

elevated risk, Will she feel the same? Is she now a little bit more anxious? I don't know. I remember, you know, it's interesting that you talk about reflective practice. And although I've not sat down and, like, written an essay about this, like, I do think, I do reflect on my practice.

And especially having worked overseas in, you know, a different jurisdiction, as a baby genetic counsellor or, you know, a new grad, I really kind of thought that in medicine, there kind of were the guidelines and you just work towards the guidelines. And, you know, obviously superficially that's true, but I hadn't sort of taken into account or I hadn't thought about how they actually create these guidelines and the fact that guidelines actually change over time.

And one thing that I find really fascinating with the whole polygenic risk score at the moment, and I mean, there's lots of different areas of this one sort of test that's changing a lot, but is the fact that we have a test that some could argue is still in the research phase, whereas it's so close to being clinical. There is actually a clinical test available in Australia that people can have that measures or, you know, gives a polygenic risk score.

Which has implications for management. It can actually change people's management and what they do medically for screening. But we just don't have guidelines at the moment. So I kind of was thinking, you know, as a genetic counsellor, if I want to sort of, you know, protect myself against, you know, being sued for malpractice or something, I work towards the guidelines.

Guidelines and but if there are no guidelines at the moment you know I you know and I've had this conversation with one of the doctors who I've worked with and they've kind of said well the guidelines are sort of like the bare minimum of what you should be doing and you can actually do more than that but is that a discussion that you guys are having as a group or that's in your research is that what Shana's looking at in her you know her studies or so is this a question of,

what are things going to look like in the future when this does become clinical and actually how do we set those guidelines for patients? Yeah. So it's not really a discussion I've been privy to at this point. I think it's going to get really tricky. I was talking with my colleague who had brought up a study that we're looking at doing sort of PRS across all women and seeing if we can risk stratify and say, actually, your PRS is really low.

You've got no family history. you probably don't even need to have mammograms every two years from 50. Maybe we can push you back to 52 or actually your PRS is quite high. You're still population, but maybe we need to bring you forward a little bit. And so that real personalization, how do we make a guideline around that? How do you say empirically, this is the cutoff of exactly when you need to have this type of screening and make it so personalized?

And also, we were talking about how a patient's going to deal with this of saying, oh, you know, let's push back on you. You don't need that. But your sister actually, who you will think on paper is exactly the same, she's going to get access to screening that you thought you were as well. So we think about the clinical guidelines, the, I suppose, culpability of us as clinicians, but also the patient's expectations and the patient's viewpoint as well can't get lost in all of this.

Yeah I mean just as a personal example you know like when you're studying medicine or genetic counseling at university and I'm sure well I was going to say I'm sure you did this maybe you did it but you know where you you're studying a condition and then you think you have that condition. Oh, we all think we have a genetic condition. Am I allowed to ask Matt, which one do you think you've got? Yeah, well, I always think that I'm going to get melanoma.

And, you know, for those, I mean, most people listening to this probably know that I've got beautiful brown skin. And, but having grown up in Australia, we were, you know, we have a very strong public health sort of program or campaign, Sleep Stops That. The sun is very virulent down here. We need to cover up and be sun smart. But yeah, out of all of the kind of medical things that I've learned, for whatever reason, I think, oh, melanoma, that's something that.

Yeah i don't yeah so i mean i want to say for the viewers at home the irony of this conversation is that i am a redhead i am skin type one i'm not worried about melanoma i just feel like it's a fact and so might you sat here with your beautiful brown skin i mean it is funny because it's not necessarily you know based on you know it's not rational but that is just the feeling i've had And then I remember I went and saw a dermatologist.

I mean, not, I was going to say not in a paranoid way. Now I feel like I'm being really defensive. But she said... Proactive health. Just proactive health. Yeah. I was proactive and, you know, just had a skin check because I do have like a couple of moles. And she said, look, your risk of sun, like skin cancer is very low.

And you probably don't even need to wear sunscreen. and that's a bold statement to hear her say that i was like oh my god that is crazy and you know but however i have measured my vitamin d levels and being in melbourne with dark skin and working inside quite often my vitamin d is quite low and i really enjoy feeling the sun on my skin like i feel like i think some people maybe who look like you going to the sun and feel like they're burning whereas i feel

like i'm recharging or like it feels really good and then i probably about six months ago i did the clinically available prs test gene type in australia and i looked at a number of cancer markers and cardiovascular. And one of them was melanoma. And it was kind of like, oh, I've got this feeling that melanoma is going to be the thing that gets me, but here's a quantitative, you know, like a test. And it was really low.

So again, that's just like a personal experience of, you know, what I've felt and has it always been sort of accurate or, you know, It's not rational. But yeah, it makes me think of women who grow up in these cancer families where maybe they feel like they're at a certain risk or, oh, you know, maybe it's men with other types of cancer and then we give them a test and then they feel like they're at a different level. Yeah. Sorry. That was a really long story. But I...

I'm going to ask, and you don't have to answer, but did that empirical data that you've said that you like to rely on and that's the way your brain works, and now you've got that piece of information to say that your risk is not what you feel your risk is, has that changed your perception in any way?

I think it has. I think, you know, maybe I put on a little bit of sunscreen and maybe just the act of that makes me feel better, but I'm sort of not like my white friends and relatives that are slathering themselves every half an hour. Yeah, so maybe I do feel like a little bit sort of calm, like, yeah, calmer. But yeah, it's interesting just to ponder, isn't it? To go back to my PhD for a second, and this is probably not going to feed into

what you want to here in terms of melanoma risk, people with darker skin do sunburn. Yes. The lab that I was working in was looking at can we measure markers of sunburning of like erythema and oedema. Yes. So you don't need to wear sunscreen. I know. And this is like the double bluff. Like it's like, oh, I don't have to wear sunscreen because my risk is lower and then I go out into the sun and then I'm burning. Yeah, yeah, yeah. No. Yeah. Well, I mean, we've come full circle.

Maybe this is a great place to finish up. Thank you so much for coming on the show and sharing your wonderful thoughts. Pleasure. Thanks for having me, Matt. Bye-bye.