Inside Genetic Counselling: Navigating Direct-to-Consumer Testing and Research. Demystifying Genetics with Joshua Nolan

Hello, and welcome to my podcast, Demystifying Genetics. I am your host, Matt Burgess.

I am a genetic counsellor in Melbourne and founder of Roslyn Genetics, a genetic counselling and testing company in Australia. Today I speak with English research genetic counsellor, Joshua Nolan. Josh and I discuss lots of interesting things, including males in the workforce, direct-to-consumer testing, and the role research plays in our clinical positions. As always, a big thank you to my editor, Angelica, and to our sponsor, CrackChain. Enjoy.

Hi, Joshua, and welcome to Demystifying Genetics. Hey, man. How's it going? I'm really good, thank you. How are you? Yeah, very well, very well. Really excited for this. Thanks for the opportunity.

Great great time for two guys in genetics to get together and have a chat excellent um i'm just sitting here in my study i've got my dog banjo next to me it's very early for him and i brought him into the studio and he's just been scratching on the carpet and he's just settled down so hopefully he won't sort of be annoying us but i know that you've got a couple of cats and i'm I'm just wondering, like, you know, I'm a dog person, you're a cat person.

Like, do you think that we'll be able to get along and have a nice chat about genetics, even though we've got this big sort of divide between us? Yeah, yeah. I think we can make it work just about. Just about. I was making friends with the cats on the way home this evening as well. So adopting some. Lovely. Okay. Well, you said, you know, two guys in genetics.

Maybe that's a great place to start. I know that when we first met, I think it was sort of at a conference over a morning tea break, and I was thinking, oh my God, there's another guy, and I think he's a genetic counselor. I'm just going to go and talk to him. It's really funny when males are at genetic counseling conferences because there's just not a lot of this.

How do you feel about sort of males in genetic counseling and sort of the lack thereof? Yeah, it's a great question. You know, it's.

Something that's very obvious in the field but you always feel a little bit weird talking about it because we're a minority but a fellow male in genetic counseling that i met at a separate conference called jared from from canada he um was giving a talk on the concept of being a minority but not being minoritized and i felt that really hit home how i feel about it you know you can't sit here as a me particularly as a white male and be like i'm the minority that just doesn't sit right so

appreciating that look we might be a minority but we're not minoritized i think is something that really you know you center yourself on that and think actually i'm not disadvantaged here just because i'm in a small number of males that are in this role but see any other males out that we're not minoritized we're just part of the the great genetic counseling sphere workforce colleagues community i guess and i think we bring our own unique.

Niceties to it and you know i think it's it's great having that diversity of of male lens looking at things as well yeah i mean i definitely do feel that we are in the minority. Like I think sort of the worldwide statistics have kind of shown that males in genetic counselling only represent about 5% of the workforce. But yeah, I definitely don't feel minoritised. Yeah, I guess that's really interesting research. I'll have to look that up.

But yeah, I know sort of over the years there's been sort of research done into like sort of recruiting minorities into genetic counselling and it's it's kind of funny that males are sort of included in that and like I don't really feel like it's such a sort of like feminine, like work for like sort of profession or but I don't know what we can do to sort of attract males like I don't know if like males and females think about genetic counselling,

or like medicine and males decide to do actually medicine at university and females sort of go into genetic counselling. That was kind of one theory. But yeah, I don't know how true that is. Yeah, yeah. I mean, you know, I grew up and went to an all-boys school and, you know, it was sort of a bit of a toxic masculinity sphere where, you know, talking about your emotions or allowing yourself to be vulnerable was sort of seen as a negative part of your personality.

Or something that made you less of a man, I guess. And maybe now, particularly now, more and more men are actually, turning away from that sort of thing where they may have grown up in that sort of sphere or that area where being vulnerable, talking about emotions. Actively listening, the skills that more and more men are having now that they're sort of rejecting that idea of men need to be strong and tough and don't talk about these things.

So, you know, I think it's definitely somewhere where we're improving and I can see from previous generations, you know, that just, those weren't sort of traits of the typical man and you know I feel great that we're two guys forging our path in this and booking that trend and allowing ourselves to learn these things learn the theory behind it use our unique lens to help more patients with in our practice so and I guess your background is sort of similar to my background and like

a lot of genetic counselors we start off as sort of very sciencey. And then in our genetic counselling training, it's like we're comfortable with the science, but then we need to kind of learn the counselling side of things.

When you were studying sort of the counselling in genetic counselling, did you find that particularly sort of challenging or difficult coming from that sort of toxic masculinity like background yeah i think it's it's always difficult learning a new new skill you know it's this isn't an easy job to get into it's not an easy job to learn and to master you know i'm i know i've got tons and things of things to still learn and places

to go and in my own practice you know we talk about introspection and reflection all the time you know we always look to see.

How much more we can improve i think i had a really good upbringing you know that helped me sort of reject those from those sort of toxic masculinity stuff from from really early that sort of a lot of that goes to my mum in general but as part of my training before my training actually to get onto the course I was a volunteer counsellor at Childline and that so again helped me get that experience to to sort of actually see just listening and hearing people out making them feel heard and seen was

really powerful and you know helping them to open up and feel safe and you know I think that's the environment we want to try and create for our patients and a safe one that they feel comfortable sharing things that might be really challenging for them to say so, yeah it was a difficult thing it's something i don't think anyone ever completes genetic counseling right it's um ever evolving and you know we can always look at ourselves and see what did we do well what

did we do that we maybe wouldn't do next time and i think it's a continuous evolution of us as practitioners that we continually try and evolve that practice and, make ourselves better i don't know if this is a bit of a tenuous segue or connection but it kind of makes me think about King Charles. I know I do think about the royal family quite a bit, you know, being an Australian and part of the Commonwealth and, you know, our strong links in Australia to the royal family.

Whereas, you know, when I spent my few years in America, you know, their link to the royal family, I was going to say it was non-existent. And I guess that's sort of a little bit more present now because of the king's son who lives in California. But, you know, for so long as a nation or as a kingdom, you had, you know, Queen Elizabeth in charge. And I think that her son, now that he is the king, is quite different to his mum.

But one of the things that I think that he does have is that he is quite.

You know, he does appear to be a good listener and you know there's that leadership but empathy and it kind of makes me think about yeah what you were just saying with genetic counseling like maybe as like a country now having like a you know one of your sort of main role models is now male and I wonder if that will sort of change things in England yeah definitely and you know I even think just more and more men are now talking about this publicly whether that be influencers or

celebrities or you know this sort of stigma around going to therapy you know is less and less these days and i think that is testament to how many more men out there talking about these things and showing that actually it's okay to be vulnerable and to listen and to talk about your your feelings and your thoughts and your emotions you know i'm really blessed to have a great group of guy friends who would you know go to the pub and we would chat about what's been going on in

our lives and you know how that makes us feel and you know you feel safe there with a really great group of guys. That will listen without judgment and you know i think more and more groups of guy friends around there particularly in you know sort of our age bracket are becoming more and more like that and And I think that can only be great for, well, men's mental health in general. That's a massive topic for everyone. But, you know, I think it's those inherent skills of just listening to.

Your friends listening to anyone when they're coming to you with a serious topic is some of the key things that makes genetic counselors great and why we bring so much good and help to patients that really what is one of the most vulnerable times of their lives right coming to see us so yeah it really can be and i think something that sort of surprises the lay person, you know most people don't know what genetic counseling is and from our job

title maybe it gives people maybe the wrong impression about what we do, but, you know, we don't sort of do in-depth sort of therapy. And a lot of our patients, we may only see them twice. You know, when we see them in the first session, we organize a test and then we sort of see them to explain the results.

But I like to think that, yeah, in those two sessions that we are able to really give a lot of value and sometimes it can be just as simple as really listing to people and understanding their concerns and it sounds like sort of being able to do that in your friendship group.

Allows you or sort of has modeled or you know there are these skills that are transferable that you can use in your real life at work and vice versa yeah yeah for sure i think I encourage all men to do, you know, is check in on your friends and, you know, listen with intent, you know, not to, don't listen to reply, just, just listen and, you know, providing that safe space for someone to just talk and, you know, silence is so powerful. Just hearing someone get some words out sometimes.

And then, you know, we see it, we see this with patients all the time, just them voicing these concerns or their anxieties, you know, can be really powerful and letting those words sit in the air, it can be something they may not have said out loud before and something actually once they've said it out loud can really help them progress forward in their adjustment journey to, whether it's finding out about a cancer diagnosis or one of their children's

unwell with a serious genetic condition or finding out they're a carrier of a pathogenic variant, whatever it may be, just allowing them that space to talk about it voice their concerns, share, it's really powerful. One of the interesting things about genetic counselling education in the United Kingdom is this idea of...

Like, I don't know how to explain it. Like, I think in Australia and the United States and probably other places around the world, to become a genetic counselor, you just do a master's course. It's like a university course. Yeah, you have placements and links to other hospitals and stuff, but you sort of enrolled with other genetic counselors and that's kind of it.

Whereas when I found out the way that genetic counsellors or some genetic counsellors are trained in England, it's sort of like a three-year course where you're with lots of other scientists and you have sort of classes in common, but then you specialize. So like if you're like a lab technician or a lab person, you study with those people.

Like, sorry, I don't feel like I've explained it very well, but can you sort of explain how you did genetic counseling and sort of like the advantages of that sort of model of, yeah, becoming like that training?

Yeah, yeah, that was the program I trained on. you do your master's part-time over three years uh which is really nice you get in a sort of intake a cohort of genetic counseling students with you i think there was maybe 12 13 14 of us we all do the master's together part-time so you get shared lecture time over those three years and then you're sort of placed and work full-time in a base hospital so i was training in oxford.

All my other sort of colleagues in my cohort were trained in various different hospitals london Manchester wherever it may be and that first year you really get a holistic view of the genetics workforce in a hospital setting so you go and spend time with the bioinformaticians for three months or you go and work in the lab for three months you know all people that really underpin the work we do we're sort of that end user point of we request

a test and then we give the results to patients but what happens in that sort of black box of the lab when the patient gets their blood drawn and then you know a shiny test report comes out and that we're talking to them about so you know learning what the types of tests are that go on how the scientists interpret the variants that they find and how the bioinformaticians do their magic that goes completely over my head but they do all of this magic and it gives us these results that

we can then use to impact a patient's treatment or their clinical follow-up or you know allow them to to make proactive choices to reduce their risk of cancer you know all of these things that you don't really see on the day-to-day.

But really underpins we you know we couldn't do that work without without them so having that first year where we do that and get that valuable experience is again really fascinating it this blows my mind how clever some of the people are behind the scenes that allow us to do the, end user point that you know that sort of point of care bit and yeah, Yeah, it's really interesting that, like, I feel like in clinical medicine,

that's how things have sort of evolved, you know, like, it's now multidisciplinary. And, you know, it wasn't that long ago that medicine was quite siloed. And the communication between the different sort of departments was via a letter, which, you know, like, they used to have to sit down and dictate and it would be typed and then sent. And now, you know, people are in the same room talking about treatment plans, which, you know, it kind of seems like a really obvious thing.

So, you sort of, you know, it's pleasing to hear that that sort of approach is now involved in the education of our scientists. So, like, you guys are all learning together and it sounds like there are some real advantages to that approach. Yeah, there are. And, you know, I was really fortunate that the program I was on, it's a funded program.

So, you know, you get paid a wage while you're working at your base hospital and, you know, you get your master's alongside that, you know, and that I think in some ways can help reduce the amount of barriers there are to low middle income families, people that are disadvantaged in general, you know, so I think it is a really good way to do it because, you know, again, it's a postgraduate degree you need to get into this field.

And, you know, for some people financially or, or otherwise, you know, that's just not always possible. So I think the way this program works, you know, can help reduce some of those barriers. You know, it's, it's not perfect.

You know, a lot of people that I trained with already had first masters, you know, so they were already in that privileged position, myself included, where, you know, I was able to get a masters that, you know, allowed me to then stand out if you will, for, for getting onto this second program. But people have PhDs already you know so.

There is still a way to go for reducing the amount of obstacles there are for underserved groups and people that maybe aren't as privileged as we might have been, but it certainly will have helped some people for sure. Yeah, something that's really familiar in the genetic counseling world, which I kind of thought that people outside understood, whereas my husband has sort of explained that it is a bit of a foreign concept. Is the idea of supervision.

And, you know, in genetic counselling, as you sort of mentioned before that, you know, we do sort of reflect on our practice and, you know, and that sort of happens through supervision. And what we were just talking about, you know, having like a multidisciplinary approach to genetic counselling education or like genetics education is really interesting.

But one of the research projects I'm involved with at the moment is through the University of Technology, Sydney, where there's a genetic counselling program. We've got two genetic counselling programs in Australia, one's at the University of Melbourne, the other one's at UTS. And my good friend, Lucinda Freeman, who's also been a guest on Demystifying Genetics, is the head of that program.

And she has just started this research project in Australia, where scientists like genetic scientists, genetic counsellors and clinical geneticists are coming together for monthly peer supervision. So it is really interesting that now we have that sort of cross-spectrum, multidisciplinary sort of approach. So I'll have to keep you posted with our research findings. I quite like that where not only are we sort of participating in...

The supervision so the actual sort of you know process but we're going to be doing some research so then we can you know publish that at the end so yeah very interesting yeah that's great and you know one of my big things I'm a hybrid clinical and research genetic counselor at the moment and I think you know there is not enough research done by genetic counselors and I know this is something that you're very passionate about as well is getting our job plans to include you

know more research opportunities you know we're the ones that are doing the clinical work delivering these tests or delivering this product if you like to people and you know we should be the ones that are researching it and understanding it more and at the moment there's just not enough genetic counselors be it through having research training or you know from working in clinical areas where there's pressure on seeing the clinical workload you know and sort of getting

more and more people into research i think is great and having networks like that that you and the cinder have got and we've got a sort of early blossoming one here in the uk that we're trying to get a paper out on exactly that point of look we're the people that can do this research.

That can really improve practice nationally maybe even internationally you know allow us that that scope within our job plans to be out there and do it because we're the people that have got the skill set the qualitative research skill set in particular that you know can give us really really rich data on patient experiences and and things that again we can all use to to benefit more and more patients if we just allowed that space and scope to do it so it's great that we're,

in that sphere and pushing that pushing that forward. I don't know if this is correct or not. I mean, it's correct for me, so it must be true. But it's sort of the idea that, you know, like I've been a genetic counselor for a while now and sort of my attitude or relationship to research has definitely changed over time.

I'm kind of thinking that i feel like research is a real sort of privilege at the moment and you know there's a lot of genetic counselors out there that it's kind of like i just need to get through the clinical like clinical is my job like you know and to do like research on top of that Like that is like, you know, like a bonus or something that's, that's extra. And, you know, some, sometimes I can't even get to that. I just need to sort of get my clinical sort of work through.

But I think what you said is really important. Like, you know, for something to move into the clinical, the clinical space, like in medicine, you know, medicine is evidence-based and we get that evidence from doing research. And I know when I first started, I did a university degree to become a genetic counsellor. And then as soon as that ended, I was like, I don't want to do research, I want clinical.

And I got into a clinical job and it wasn't until I was actually employed clinically that I was like, oh, okay, research is actually really important. You're employed at a cancer research institute.

Do you think, like, talk to me about sort of clinical versus research and do you feel like the research component is like a, you know, a privilege or an added benefit or like, should it just be part of everyday work? Yeah, I know. It's a really good point. And, you know, I think I come back to, you know, evidence-based medicine is key. It's paramount. You know, we need to be basing our practice on robust evidence.

And if us as genetic counselors aren't doing the research on our practice, then it's going to be people not in our practice doing the research on it. And, you know, we've got the best insights on it. We know we deal with it day to day. You know, we can talk about anecdotally all the things that we think, oh, this is going to work. But if we don't, not out there collecting the empirical data on it, be it quantitative, qualitative, you know, that's why I think it's really important.

We should be more and more into it. and I think it is a real privilege working at a research institute you know we're working on some really big programs now that hopefully we're going to change clinical practice with, you know and and those things are how we do move forward you can sort of get almost stuck in a rut of just doing your clinical work and it's you're never changing things so to be in a position where I might have the have a hand in changing how we

practice clinically here in the in the uk is you know it really is a privilege i think that's a great word for it.

And you know i i'd love more and more people to do it and you know the nhs is publicly funded and there are sort of pressures on that so you know i get it you've got patient lists to see you've got wait lists to meet and we don't train enough genetic counselors for starters you know i'm sure we'll get on to how much demand we're in as a profession right now and struggling to meet it So, you know, if we can think of how we can be more efficient, increase our throughput

through various different ways, that's great. But again, you can't just introduce these without having good evidence to say it's non-inferior to current practice. That's the biggest, biggest key one. But actually, if we can get evidence to say all these things that we're doing that can increase efficiencies and throughput are actually as good as, you know, what we're doing or can help, you know, more and more people than that sounds like a good thing.

But we need to do the research on it. And that's where hopefully we can come in. Hmm.

Yeah. I kind of think, you know, what advice can we give sort of younger genetic counselors or genetic counselors that maybe don't have as much experience? And like, cause I know, you know, I became a genetic counselor without a master's degree and I remember trying to sort of do research, but I didn't know what I was doing. And I actually did some really bad research. Like, you know, like I did this research project where...

You know, I actually carried out interviews and I didn't have ethics approval, you know, so I, I mean, I don't think I harmed anyone, but that's the worry about conducting research. And, you know, so obviously I couldn't publish any of that because there was, you know, I, and like, you know, like my research sort of methodology was not sound, but so I feel like I really had that desire. I remember asking people for help and I just tried to do it myself.

And then, you know, like I feel lucky that I did go on and get a master's degree. So then I studied some research methodology and then went on and did a doctorate. So I feel like I have gone from one extreme to the other. Now I understand like research methods very well. But I think what helped me sort of through the process was actually being involved in.

Clinical research where I could and you know like I remember like whenever there was like a clinical trial involving genetics at work I always sort of volunteered to sort of help with that and I know the other thing was you know I like going to conferences and a lot of the times when you go to conferences you need to present so then like you know maybe a month or two the before i would think about what i can do a poster on and

it sort of was like the wrong way of doing research like i was like oh i just need to do a poster so let me just do something and it's like oh actually like.

Maybe you should work on something that you're interested in and then you can gather some good data and then you can create a poster and then that is sort of interesting but like do you have any advice for genetic counselors that are working clinically that may be thinking that they would like to do some more research but they're not really sure how to do that yeah and i think i again i got really lucky with my career path which was quite atypical you know you finish your your

training and then you go straight into a clinical role i took a bit of a left turn and was a research genetic counselor working on their you know you know well-funded program at the university of oxford so i was working there under you know a great pi liz almondroid and it's just taking those leaps sometimes when you're in the clinical sphere sometimes it's hard to see outside of your waitlist and your patients and everyone that

you've got to see on a clinical basis but I think you said it there, if you can volunteer on those things and put yourself forward for those. You then get to meet people in the research sphere. You know, we met again at the conference very recently and there was tons and tons of people there that had a research-minded approach to their either practice or they were working at a university where they were, you know, in charge of their students and their research projects.

And going to those conferences and meeting people and networking really opens up so many different doors you know that's how I got into that research group as well that we're working here in in the UK and you know we we meet we we chat and just knowing different people in those areas really helps to see what everyone else is doing you can get involved in those things more and you can start to form your own ideas and you know networking is

scary I don't don't massively like networking but it's it's great when you do it and you meet people and you think gosh this is great you know my my eyes are open now to so many different options you meet so many people from around the world looking into so many different things you're like this is this is great we are here maybe we're just not as visible maybe as sometimes as we should be.

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Go to trackgene.com. That's T-R-A-K-G-E-N-E dot com. So, I know some of the research you're involved in is involving people with a Jewish background. Yeah. And it's something that I think is very interesting. Like in genetics, we often ask people what their ethnic background is because that can give us clues in sort of maybe which genetic conditions to think about.

You know, because some genetic conditions are more prevalent in some communities than others or, you know, certain testing procedures. Like if we know that someone is from one particular group, we might do this test before another test. But I wonder how, you know, that is sort of evolving and like as genetic testing is becoming like cheaper and more complex, like is sort of ethnic based testing or like, is it as important?

Just wondering if you can tell me about sort of like the evolution of that thinking. Yeah. Yeah. And I think in some ways, yes.

In some ways, no. you know we've got a very clear founder effect here in the Jewish population so specifically working on BRCA1 and 2 where people with in particular Ashkenazi heritage have a you know much much higher chance of having a pathogenic variant that predisposes them to breast ovarian prostate cancer a little bit of a pancreatic cancer is too and I think what we're seeing more and more now particularly as testing has become cheaper and our understanding of it is getting better is

can we identify more people who are at genetic risk who are born with these.

Inherited cancer susceptibilities can we identify them, earlier before they're becoming unwell will that allow us to introduce different health care for them means we give ourselves the best possible chance of catching anything untoward at the earliest possible stage where treatment outcomes are much better and we might even prevent cancers entirely with you know the ovarian risk reducing surgeries so I think it's going to be difficult,

moving that into the wider we'll do this test for this ethnicity and this one for this but again And we're pioneering this in the UK. We've got a very clear founder effect, very clear guidelines on what we can do when we identify people. And so we're moving forward with that. We've had a tremendous response from the Jewish community and people with Jewish ancestry. Speaking about the high throughput work we're doing, we've had, I think, just over 28,000 people sign up within two and a bit years.

We've completed testing on just shy of 18,000, and we've picked up you know 350 people with a an inherited cancer susceptibility in BRCA1 and BRCA2 and you know those people otherwise would have been walking around with this in their DNA and they would never even known about it so you know allowing those people appreciating that it's not nice news to receive it's not nice news to give but you know allowing us then to maybe.

Facilitate different choices for people to um, possibly reduce their risk of cancer or reduce their chances of having a bad outcome from a cancer is again it is really a privilege to be able to bring that to so many people. Yeah that's amazing because not only are you helping those sort of 300 or so people themselves it's you know helping their families like so if we sort of identify something in an individual you know then we know that their relatives are at risk as well.

It's sort of fascinating because Because on one hand, there is such a strong sort of founder effect. So if you do have Askenazi Jewish ancestry, we know that you are at a higher risk of having one of these cancer predisposition pathogenic changes. But then, so obviously, like, you know, that's really important to know.

But then culturally, there are all of these people that may not know that they have Jewish ancestry and with what was going on in the world not too long ago, it actually was very dangerous being Jewish. And we know that there are people that changed their religion or just said that they hid that part of themselves.

I'm just wondering like how important is it to know whether you have jewish ancestry or not or and because i guess you know like when you identify as jewish and you know maybe you've got four jewish grandparents there is this cultural sort of uh you know it's this lovely cultural phenomenon of being sort of encouraged to maybe. Match with somebody who is also from the same background and there's beautiful sort of advantages to that as well.

But we know just in current life, you know, there's such a mixing of cultures and people dating people from other sort of backgrounds. And, you know, there must be like so many people out there that actually don't know about their Jewish ancestry. Like, do you think it's important? I don't even know what my question is. Like, are you identifying lots of people that have this strong genetic link that they didn't know about? And, you know, is that important?

Yeah. And, you know, I think one of the reasons we are asking people to self-report Jewish ancestry is because you, how do you prove Jewish ancestry? For one you know you said a few things there around you know particularly in england when people were escaping persecution you know last century they would move to england and would.

Anglicize their name and become white men instead of vice men or you know whatever it was to try and mask that because of the threats they were escaping and and you know so many people around there will have ethnic jewish ancestry and not maybe align with the religious aspect and so So, you know, we've had a few people that have said, I had no idea I was Jewish, but I did 23andMe and it said I was, you know, a quarter Ashkenazi or whatever. Is that acceptable?

And we're like, yeah, you know, if you self-report one Jewish grandparent, that's all we're asking for, you know, and there will be plenty of people out there that maybe we aren't reaching that will have Jewish ancestry that may be missing out on this test. But, you know, hopefully we're using our Jewish community partners and charities to help try and reach these groups. and we've had some national press and advertising it around. So hopefully people can, we are visible.

And as I say, the response we've had, 28,000 people is a lot. It's a lot on the ground to deal with. It was just me and one of the genetic counselor working on that. But yeah, we're reaching more people than we possibly thought we would. And that is only a great thing. So you mentioned a direct-to-consumer test there. Tell me about your sort of involvement or like your opinions on direct-to-consumer testing. Is it something that you're involved with like on a day-to-day sort of level?

Not on a day-to-day level, but I did do a systematic review of direct-to-consumer genetic tests as part of my master's thesis for my genetic counseling master's. and I think, A lot of people often conflate private healthcare with better healthcare. You know, a lot of the time in the UK, we have a really good, you know, I'm really proud of the NHS, really good public healthcare system.

And, you know, a lot of people who use private healthcare will see the same consultants that do NHS work just in the private sector. So, you know, there is no material difference there between the care that they're receiving.

I feel like genetics is the area where that isn't true you know 23andme will use genotyping and things that you know we wouldn't use for that same particular test you know in the 23andme test where you can get your I'd say BRCA genes looked at you can get part of them looked at uses genotyping and you know we're using full sequencing so there's very clear differences there and actually that that difference between I'm paying for this therefore it must

be better doesn't always ring true for genetics, and you know you and i both know there can be for some people some really strong psychosocial.

Impacts of receiving this test and i think where the direct to consumer sphere currently lies is that they maybe aren't quite up to scratch as if they would have come and came and seen us in our clinical practice you know to make it a competitive price point for consumers to purchase it maybe they have to use a cheaper technology like snip genotypes or maybe the genetic counseling appointment with a qualified professional afterwards is an optional extra and you know

sometimes they maybe don't do the exact same things that we do that again people think I'm paying for it therefore maybe it's it's better it's private health care it's better and it's not always the case and maybe I'm a cynic on that but you know I think what we've got to be really careful of is not i mean 23 and me have gone into bankruptcy protection now you know they're clearly a business model that is not doing as well as they all the investors would hope but i

fear we've got a real chance that the consumers and the public can lose trust in genetics if it's done wrong by a commercial entity that you know either scrimps on proper support with genetic counselors or with tests that maybe don't have the as good sensitivity or specificity and and you know there's chances of incorrect results that that really can help to reduce trust in genetics as a science or maybe that's you know catastrophizing but that's sort of where.

I hope it doesn't go but I can see it going if you know subpar things in the private world the sort of commercial world then start to leak into people don't trust genetics when we're doing it clinically and we've got you know good evidence to say this is what we're doing this is why we're doing it it works but if people's trust starts to go.

Yeah, I think that's a great point. And for laypeople, it really is confusing to understand the difference between a recreational test that you buy online, which may be on sale, versus like a clinical test done in like a certified public lab somewhere. Because, you know, from, you know, like a superficial sort of lay, not that lay people are always superficial, but, you know, from like an outsider's point of view, they're all genetic tests.

But we actually know that there can be a lot of difference in that actual quality of genetic tests. And it does sort of worry me that, you know, there are people that are doing these tests, you know, these recreational tests for fun. You know, maybe we just want to know where our ancestors are from and, you know, oh, I'm like 3% Icelandic or, you know, like it's a fun sort of dinner party conversation. But then there are sort of health aspects that can come of it.

Like I know when I worked in a large tertiary hospital in Melbourne about eight years ago we had about a year where you know probably once a month we would have a referral for someone who had done a recreational genetic test they had found that they had like a you know a serious mutation or gene change predisposing to I think it was like either cardiac genetics or cancer genetics so like serious conditions where we know

that there are sort of good sort of interventions that can take place and every single one of them when we tested them clinically they actually didn't have the mutation that this fun test kind of said that they they had but you know this is sort of dated now I'm not sure if that's sort of.

Still current like if that's sort of what's still happening i don't know if you know yeah yeah i think it's i'm trying to think of the paper that explained it really really well i know it's a team are down in exeter i think the surname of their first author's whedon i think but they explained it around the the snip genotype in the way that it works in the way that their tests are powered.

The rarer a variant is you know it's the smaller it's variant allele frequency the greater chance it is of being a false positive when reported on these types of tests and you know these are the types of things that it's really hard to walk back information once you've given it you tell someone we found this in your dna it causes this serious condition then to say actually it wasn't there there's always still going to be a bit of anxiety around was it there was it

not you know that's really difficult to to walk a patient back from when you've you know elevate their anxiety of this serious condition that you know isn't isn't real and i think that's where trust comes into it you know we want to get short we want to make sure that we're giving the right result and the correct result first time that's how you you know build trust in us as a science and there's tons of misinformation around now about science and fake

news is everywhere and social media can be you know an absolute minefield of you know i've said this the loudest therefore it must be true you You know, we need to try and get away from these tests that are giving people probably a horrible time for a couple of months. And even then once you say, actually, no, it's not there, you confirm it clinically, there's always that little bit of doubt to say, well, which one's right?

Which of these two tests that you're both saying are genetic tests is the right one? So my opinion on direct-to-consumer genetics is it absolutely has a place, but it needs to be done right.

You know it needs to be there with support with qualified genetic counselors there i mean there's a whole host of other issues there around we can't divert the need of clinical resources of our very finite genetic counsel pool to people that can afford to pay it you know that two-tiered system that again doesn't sit right but you know if companies that are out there and thinking of, doing this you've got to do it right you've got to get the right people in you've got to have the right pathways.

Otherwise, I mean, you'll fail first of all, but you know, you really risk damaging this whole field of very, very good science. Yeah, no, I completely agree. I think something that's interesting that maybe the Americans have learned, is just sort of the value of genetic counsellors and sort of how much bang for the buck, so to speak, that we can actually give.

You know, you've outlined a number of sort of contentious issues or like potential problems with direct-to-consumer testing and then sort of, you know, one of the obvious answers is to have a genetic counsellor who can sort of fix up the problem or, you know, sort out the mess. So, you know, I think that that's quite lovely.

Another thing that I sort of wanted to talk to you about, I know you sort of mentioned in passing to me previously, this theory of fuzzy trace and giving the gist. And it was something that I needed to go away and sort of do a little bit of homework on. And so I've read up a little bit about it. And the theory itself is not directly related to genetic counselling, but when I was reading it, I was like, oh, wow, I wonder how this interacts with my practice of genetic counselling.

Can you tell me a little bit more about this sort of theory? How did you find out about it? like are you do you understand it in great detail or is it just something that you've done a little bit of reading on or sure yeah no it was taught to us in our in our master's course actually and it was something that really resonated with me because you know i'm a cancer genetic counselor so i entirely focus on inherited cancer susceptibility and you know there is some real complexities

around that. We've got, you know, if you take a. Any given gene in the cancer susceptibility sphere, you know, there might be three, four, five, six different cancers that someone might be at an elevated risk of. You know, you think about the mismatch repair genes and Lynch syndrome, you've got colorectal cancer, endometrial cancer, ovarian cancer, any sort of other of the gastrointestinal ones.

And, you know, as a information giver, which we primarily are in our, you know, appointments, you can sit there and you can outline what our best estimates are of each of those cancers for the average person but if you say to someone you might be at risk of these seven types of cancer if you've got an msh6 or mlh1 pathogenic variant actually they're going to remember all of that are they going to remember those specific numbers of you know you're at six percent risk

of upper gi malignancy or you know 43% risk of colorectal cancer by age 75. It's good to have that information, but actually to help them process it and take away from that, that session, that information learning appointment, actually, what does that mean for me? I think this is where the gist of the message is that this increases your risk of these cancers modestly, and then they can't get numbers confused.

You can give them the numbers separately so they can, you know, look them up and, and have them there but it's really about helping that person understand actually what does a six percent lifetime risk mean for me what what what is that and so if we can simplify a message give the gist of the message as the sort of top line takeaway message i think that helps people understand it a little bit better it won't be for everyone you know because

some people want the numbers and they're very data driven and data driven sorry for your own homelessness.

But giving a gist of a message I think allows less chance of a person being confused around, precise statistics and you know that's where I use it in my practice you know I don't think it might it might not be applicable to other types of genetic counseling practices say in the general sphere or the cardiac sphere but I think yeah that's where I use it most is what is the message I want this person to go away,

knowing you're at a significantly increased risk of this. There's a modest increased chance of this. And that can help people who perhaps aren't numerically minded understand that a bit better as well. So definitely one I use, a lot, but not for everyone. You know, I think that's the beauty of genetic counseling is we have lots of strings to our bow, so to speak, and this is one of the ones that is great to use. Yeah.

I think, you know, as you sort of mentioned, we are primarily involved with giving, you know, we're information givers. And when you sort of read more about this theory, it sort of talks about, you know, the verbatim information that we're giving. and how it can be quite detailed. And like, I think when we're going into a session, you know, like we think about what the condition is and then we think about all of the

data that we want to share about that condition. And then we think about the risks. And you're right, like we do have the ability to be patient-centered and to make it sort of, you know, appropriate for our patients.

But then this theory is kind of talking about, yeah just giving the gist and it also talks about sort of the difference between sort of using intuition and data and i think yeah if you are more of a intuition person having all of the exact data probably isn't that important and i i feel like this is a revelation and you but you said that you've studied this in your genetic counseling course which i think is amazing but yeah this is something new that i thank you for yeah sharing with

me i need to go and look at this i think yeah and it's one of those things we sort of can get insecure about we've not told the patient to nurse but sometimes if a patient's coming to a predictive test for cancer susceptibility gene they're anxious about potentially getting the result and then being at risk of those things if you throw six or seven different percentages at them for six or seven different cancers there's very easy chance that they're gonna misremember those

and you know actually that might then mean they're.

Informed choice to take part in the test is what was the number for that one or am I more at risk of this one and you know if you can give them sort of more simple take home messages the gist of the message is the one I think that can really help again some people it's not for everyone but I think that can really help give some more clarity you know if you're in you're sat in an appointment receiving all this information you're anxious you might not be taking it all in you know so if we can give

them one or two easy headlines there's a moderately increased chance of this and we're going to do this about it you know actually does it make a difference if you're at 25 percent risk of a type of cancer or 27 percent you know what what do how do you process those minuscule differences versus sort of categorizing them into moderate modest significant i think that can help.

Definitely well what a beautiful place to finish up thank you very much for sharing your ideas on these very interesting topics and yeah i thank you thank you matt for having me i've been a great pleasure and anytime okay bye bye a big thank you to my guest today josh and to you the listener, If you enjoyed this podcast, please do me a favour, like it and consider leaving a review. Doing these things really does help with getting my podcast out there.