Matt Burgess (00:00):
Welcome everybody. Hello to the second episode in my podcast with the title Demystifying Genetics. This is the first podcast where I'm actually interviewing somebody, and I have on the line a genetic counselor from Sydney and a good friend called Ronald Fleischer. So, welcome, Ron.
Ron Fleischer (00:23):
Good morning, Matt. How are you?
Matt Burgess (00:24):
Good, thank you. I understand that you are on holidays up in Queensland at the moment. How is the weather?
Ron Fleischer (00:32):
Oh, it's very lovely. I I drag myself outta the pool to give you a bit of time now because as we were saying off air, there's, there's nothing that people in our profession love doing more than sitting around talking about genetics. So I was very happy to come in and be a guest on your podcast.
Matt Burgess (00:49):
Excellent. Well, I'm very grateful and I'm also quite envious because I did get wet this morning. It is a cloudy day in Melbourne and it's raining and yeah, probably not as nice. Well,
Ron Fleischer (01:03):
Oh, you know, Melbourne by the time podcast is finished, it might be 30 degrees and Sunny. Who knows? <Laugh>.
Matt Burgess (01:08):
Excellent. So you are a genetic counselor. Your background is, you studied a science degree at the University of New South Wales, and then went on to do genetic counseling at uni in the year 2000 Yep. That while you were working, you became certified in 2010, and you are currently working in Sydney.
Ron Fleischer (01:33):
Yep. That, that's pretty much the story. I think like a lot of people who got into genetic counseling, you know, I've got a real passion about genetics. But more so the, the science and the communication side of things. Whenever I was doing sort of wet work in the, in, in the lab that was never my favorite thing and I always relied on having good lab partner to get me through get me through undergrad uni. But in terms of actually the the, the genetics and the, and the, and the knowledge, like I, I just soaked all that stuff up. I loved it. And I was really looking for a career where I could I help people. And so I feel that genetic counseling brings those two things together. The the the love for science and, and genetics, but also being really a a a good help to pe to people and, and being a good resource for people.
Matt Burgess (02:21):
Excellent. Yeah, I think us genetic counselors, we, we do have a passion for people and the science, but also that sort of communication and I find that this is a great job. Like, I was, like, you, I, I really liked science and I remember being in the lab, it was kind of, you know, it was interesting, but I thought, I really need a sciencey job where I get to talk to people. And I think that this is a, a great profession to sort of bring that together.
Ron Fleischer (02:47):
Oh, look, I mean, it's just so sort of satisfying to be in a consult where people come in and they don't understand, you know, so many elements of something that's so personal to them. And then you spend a bit of time with them and you work through it with them, and you, you almost see the light bulbs go on and, and it all sort of starts to make sense about why, you know, they've got this personal history of a gene disorder or family history, and you just walk through it with people and it all suddenly makes sense to them. So it's, it's very rewarding.
Matt Burgess (03:15):
Yeah. So when you and your wife are out and about and you're at a dinner party or you're at a, a barbecue and someone says, oh, Ron, what do you do? How do you sort of explain what genetic counseling is in that kind of 30 seconds that you've got?
Ron Fleischer (03:31):
I, I know, you know, the question's gonna come when you meet someone new and you're like, oh, okay, how long, how long am I gonna invest in this conversation? Because you know, you tell people, you say, oh, I'm a genetic counselor, and they say, oh, genetic counselor. Oh, what, what's that? And then off you go. And, and so yeah, it is good to have a a a good little sort of 32nd sound bite. But I look, I, I do tell people that we, we speak to people with a personal or family history of a genetic disease and try and help them make decisions about their, their healthcare based on that.
Matt Burgess (04:03):
Excellent. That sounds like a really good summary. Yes, <laugh>. So what are you wor working on at the moment?
Ron Fleischer (04:10):
So, I'm in a, in a, in a major public hospital in inner city Sydney. So I guess on a day-to-day basis, we have a lot of prenatal, pediatric and adult patients moving through on the prenatal. A lot of the focus is on down syndrome screening in terms of pediatrics, we see children with a developmental disability that might have a genetic basis, and we're trying to help people get to the bottom of that and work out what it means for that child, what it means for their future family planning. And then in the adult hospital, I mean, this is the area that's just growing exponentially. We're getting referrals from just about every subspecialty where they have interesting cases and they're, they're wondering whether there's a genetic basis to the to the disease that they're seeing. So that they'd be the three main areas in terms of a personal interest. I really enjoy the prenatal work that, that we do. It's always been something that I've been really interested in.
Matt Burgess (05:06):
Excellent. Yeah, I'd really like to talk to you about that, that prenatal side, but I'm just gonna put that out on the shelf for the moment cuz I want to come back to that point that you said your last point or sort of that third part of what you do. You, you mentioned that you're getting more and more referrals from lots of different areas of medicine. So do you mean that it's for, for older people where they're thinking previously that maybe there wasn't a, a something genetic going on, but now they're thinking that maybe their illness or their symptoms are due to a, a genetic factor?
Ron Fleischer (05:41):
Yeah. I, I think what we're seeing is just a, a, the sort of changing landscape where genetics really grew out of, of pediatrics. But of course there's hundreds or thousands of adults coming through hospital outpatient clinics who also have a genetic basis to their condition. So I feel like we see all the, all the cases in the hospital that the other specialists can't sort of get to the bottom of, and they think there's something more going on and they can't put their finger on it. And then often they'll make their way to, to genetics and will do some testing or look further at the family history, and suddenly all the pieces fall into place and you realize that you're looking at a, at a particular rare genetic disorder.
Matt Burgess (06:21):
Mm-Hmm. And I know in the cases that I've had that are sort of similar like that for, for sort of the parents of these adult children to finally get a diagnosis after say 30, 35, 40 years, like that is, it's just an amazing thing to see, isn't it?
Ron Fleischer (06:37):
Oh, look, absolutely. I, you know, I had a case just the other week that started in a, in a prenatal setting. Actually, this couple came to see me for preconception advice, and she told me that she had a brother with a fairly significant intellectual disability and could it be genetic? And that was really the starting point. And in the fullness of time we got that we got her brother assessed, he hadn't, like you say, he hadn't been seen for over a decade. All the basic genetic tests from, from more than 10 years ago had been done. But you know, as you know that the scope of testing so much broader now we're actually able to identify the gene change in the brother and come back to my patient and give her accurate advice about her future family planning. Wow. Which I think is it, it's just the, it's just the textbook case of, of genetic counseling. It just takes a bit of time to, to pull it all together. Yeah. but yeah. Yeah.
Matt Burgess (07:34):
And I, I think what's interesting, like, you know, when we first started out in genetics you know, the doctors that we worked with used to sort of come up with a a diagnosis in their mind. And with the, the way that the technology was, they had to kind of think of the most likely diagnosis. And that test may be a couple of thousand dollars for that one gene, and then you might go to the second gene and the third gene, whereas now, sort of doing it that way isn't as important because the technology means that we can scan hundreds or thousands of genes all at once.
Ron Fleischer (08:11):
Y Yeah, that's right. And then the, the importance then is all the interpretation that, that the, exactly as you say, the rate limiting step last time was about, or, or a decade ago was, was generating the data. Now we've got no problems generating the data. It's, it's interpreting the, interpreting the data correctly in the context of the patient in front of you. That is now the challenge. Yeah.
Matt Burgess (08:32):
So going back to prenatal you said that sort of an area that you really enjoy working in. Can you tell me a little bit about what makes prenatal interesting for you and sort of what you really enjoy about that sort of part of genetic counseling?
Ron Fleischer (08:48):
I, I, I mean, it, it's funny, isn't it? Because I, I would've had essentially the same discussion with thousands of, of women or thousands of couples now who have come in with a high risk screening result, usually for Down syndrome. And then I talk them through the different options they've got if the resolution to see whether their, their baby is affected with Down Syndrome or not. So it's essentially the same conversation, but I, I love having it because at the end of that conversation hopefully, you know, that woman or or that couple have reached a, a, a resolution about what testing they want to do. And of course, I don't mind what test, if any they decide to do. I, I just want it to be the right test for them. Yeah. so it's, I I just really enjoy that process of walking through with someone to, to help them out of a, you know, a moment of, of anxiety or stress or, or whatever they're, they're feeling after getting a high risk result and helping them through that.
Matt Burgess (09:45):
No, I think one of the lovely things about genetic counseling is that we're so lucky to be able to spend some time with our patients. And I know in a, a prenatal setting, we don't have oodles of time. But usually we have enough time to kind of go through issues or to, to, to have a, a conversation with our clients. In the previous podcast that you'll be able to listen to I was talking about when we get asked what we would do in a certain situation, is that something that your clients ask you a lot?
Ron Fleischer (10:22):
Yeah. All, all the time. And, and, and I actually give people an honest answer. I know there's a textbook answer that you're, that you're meant to give. Yeah. but I actually give, give an honest answer. And I preface it with, you know, the stage of life that I'm at and where my family's at at the moment Yeah. And what it might mean to have a child with special needs and, you know, all of that. So even though I do give them a, a personal answer, I, I, I talk them through my thinking and I hope that that helps them you know, with their thought process.
Matt Burgess (10:53):
Yeah. So it's like you're telling them what you would do, but also the important part of why you would do that, so Yeah. For them. Look,
Ron Fleischer (11:02):
I, I mean, the interesting thing that's come up in the last little while, there's a, there's a, a relatively new screening test for, for Down syndrome which is a test called non-invasive prenatal testing, or we call it N I P T for short, Uhhuh <affirmative>. And it's been marketed very well as certainly where I am in Sydney. And there there's a lot of perception by people that they need to have that test. Even though they might have already had some down syndrome screening that's given them a low risk result. So I certainly don't hold back in telling people, people where they're paying outta pocket. I certainly don't hold back from saying, look, you, you're really just dotting your I and crossing your T's. Yeah. and you're choosing to pay $450 to do that. Yeah. So I just make people aware of the test they've already had and what the limitations are of, you know, further testing.
Matt Burgess (11:49):
I think, you know, that's great. And it's so complicated. You know, I think that a lot of people try for so long not to try and fall pregnant when they're in their teens or twenties. And then when they think, okay, now it's time to have a child you know, it's complicated. And people think that falling pregnant comes really easily and there's so much information out there and you kind of compare notes with your friends and say, oh, what tests have you had? And, oh, okay, well, I want that test. And, you know, I just think it's lovely that people are able to sit down and sort of go through these various options. And I'm glad that you brought up that non-invasive test mm-hmm. <Affirmative>, because my understanding is that some of the screening tests or some of the tests that you can have during pregnancy are free, or they're sort of covered under public health, whereas others aren't, and you have to pay for them. I'm just wondering if you could talk a little bit about about that issue. Like is it a problem that there's you know, that some are covered and some aren't, should they all be covered?
Ron Fleischer (12:59):
Yeah, I mean, it's a, it's an interesting question. And, and I think, you know, we've gotta keep in mind that when we're talking about the Australian population, we've got metropolitan, we've got rural, we've got regional we've got different people with different access to different things. So it kind of depends on what you can already get. If you can get a great you know, really thorough, careful obstetric ultrasound where you are you might not need to do the N I P T blood test because it can essentially be covered by by, by your ultrasound screening. Whereas if you're in rural new South Wales and, and you know, you're closest tertiary level hospital is, is hours away, you know, maybe the blood test is the, is the right way to go. Mm. I think, you know, really my, my advice would be to speak to a genetic counselor and and, and, and get their advice for, for your particular circumstance.
(13:54):
Yeah. in terms of how it ought to be funded, that's out of outta my hands unfortunately. But, but, but I do think it's important that people aren't, aren't coerced, aren't financially coerced into doing one test or another. Yeah. And at the moment we're in a situation where a test like an amniocentesis attracts a Medicare rebate but carries a small risk to, to the pregnancy because it's an invasive test. Whereas the N I P T test is completely safe but not covered by Medicare. Yeah. So you could definitely have people who have an invasive test and risk their pregnancy because they don't have the money for N I P T. And, you know, personally, I think that's, that's wrong and, and needs to be, needs to be sorted out, and it will be in the form of time.
Matt Burgess (14:39):
Yeah. I think it's funny, one sort of aspect in genetics that we are seeing is that the technology is growing, but sort of our policies and procedures are sort of lagging behind a little bit. And I think sort of what you just mentioned was a, a good example of that.
Ron Fleischer (14:57):
Yeah. Look, I mean, you, you know, you and I are both doing a little bit of private practice work as well now, as well as the time that we spend in the, in the public system. And for me, that's grown out of just the frustrations sometimes of what happens in the public system and just the how slow it is to you know, integrate new technologies and, and to actually make things happen. I kind of felt, well actually I'm just gonna set up a private practice and, and implement the things that I think ought to be implemented. Yeah, I dunno if you felt the same.
Matt Burgess (15:28):
Yeah, no, I, I, I, I know when I started in genetic counseling about 15 years ago, I never ever thought I would go into private practice. You know, I'm such a public health advocate, and just as time has gone on and I've got sort of more experience, it, it's really interesting seeing that we are able to help a subset of the community in the public, in the private sector. So it is, it's the people that are requesting that service and you know, I think that it, I didn't realize, but it actually compliments public health really, really well.
Ron Fleischer (16:03):
Yeah, absolutely. Because people who, like every other discipline in medicine there are some people who can afford to access that privately and then that takes people off the public waiting list as well. So No, you're, you're right. They're sort of complimentary, aren't they?
Matt Burgess (16:16):
So tell me about your private practice. What what is it called?
Ron Fleischer (16:21):
So it's called the Genetic Clinic. Excellent. and it's in eastern suburbs in, in Sydney. And I actually really vividly remember going to a conference and hearing for the first time about expanded carrier screening Uhhuh <affirmative>. And I'll, I'll just explain what Paris's screening is. If you, if you think that essentially all of our genes come in pairs because we have one copy of each pair from each parent it, it's possible that you carry a, a gene fault in one of those pairs. And because the other copy is working fine, you never know that you're a carrier. However, if two carriers get together and they're both carriers for the same genetic disorder, they're at risk of having an affected child. And there's lots of conditions that are inherited in, in, in this way. Cystic fibrosis is probably a, a, a really typical example, Uhhuh <affirmative>. So most of the time when a baby's born with cystic fibrosis, there's no family history. It's just occurred through the random chance that both parents were carriers for a cystic fibrosis gene fault, and they both passed on the faulty gene to that affected child.
Matt Burgess (17:23):
Yeah. And I think that a lot of people sort of have a, a general understanding of what it means to be a genetic carrier, and they sort of maybe remember sort of that sort of recessive inheritance. That's what we sort of call it from, from science studies. But that last point you said that a lot of the children that are born with recessive conditions it's into a family where there is no family history of that condition. And I think that's the thing that really surprises people
Ron Fleischer (17:53):
Mm-Hmm. <Affirmative>. Yep. Yep. That's right. And you know, often the, the, when when we meet people who've gotten a child, they look at us in disbelief saying, how did this happen? Family history? It's like, well, this, this is how it happens. You know, the people in your family have probably been carriers for generation, and then it's just the, the, the, the dumb luck that two carriers both swiped the right way on Tinder or wherever they met <laugh> and, and ended up having an affected child. So I got really excited about, about carrier screening Uhhuh, because I think, you know, for a, for a country like Australia, this is something that ought to be happening. Now that we've got the technology to screen people to find out their carrier status, there's just no need for people not to, not to know whether they're a carrier for a severe recessive genetic disorder.
Matt Burgess (18:39):
So what, what are you saying there? Like are you saying that you believe that everyone should be having carrier testing or,
Ron Fleischer (18:48):
I, I, I think everyone should be offered and, and know about carrier testing. And I mean, the cost of testing at the moment, you know, ranges from about 400 to $700. A lot of people are spending that kind of money planning a family that they're spending that kind of money on their stroller or on their cot or other bits and pieces. I, I, it's, I know it's, you know, it is a considerable amount of money. Yeah. But in the scheme of things it, it's not that much. It's, it's pretty accessible. I think if people made it, made it a priority. And a lot of people think, well, it's not relevant to me cuz it's not in my family. Yep. But exactly that point you made it, it's never in the family until it is by which point it's it's too late.
Matt Burgess (19:29):
And so in your private practice, is that sort of a lot of the clients you're seeing to sort of organize that carry a screening for people that aren't pregnant, but they're they're sort of planning pregnancy?
Ron Fleischer (19:42):
Yeah, exactly. And, and you know, that kind of testing is really barely available in the, in the public service, in the public setting. It's certainly not funded in the public setting. So, you know, I think that's a really good use for, for private practice. And so people will either come in because of a family history or often, you know, if some happen to a friend of theirs, they've had a child with spinal muscular atrophy or one of the rare genetic disorders, and suddenly their eyes are open to the fact that these things can happen. And even though they're individually rare, you know, we, we can screen for dozens or hundreds of rare genetic gene faults and people can know their carrier status prior to starting a family.
Matt Burgess (20:24):
Mm-Hmm. And I, you mentioned spinal muscular atrophy or sma, which is one of the, the more common conditions that we see. And that has been in the media a little bit lately and have, have you sort of been involved with how, what that conversation in clinical genetics in Australia is changing about funding for for carrier testing?
Ron Fleischer (20:51):
Yeah, look, I think everyone's, everyone's looking around the room trying to work out who's going to pay, is this gonna be a patient pay system or are we gonna get some state or federal government funding? But I think what we're seeing at the moment is an awareness that, you know, this needs to be, this needs to be funded, this needs to be rolled out as a, as a proper screening program. In the same way that we do bowel cancer screening and breast cancer screening. If people want to know their genetic status for a couple hundred dollars, it would seem like a good use of, of of funds.
Matt Burgess (21:21):
Yeah. Okay. So changing tact a little bit most genetic counselors, if not all of us are members of a organization called the Human Genetic Society of Australasia. And each year the H D S A has a conference, and I understand this year the conference will be in Sydney and you are helping organize this.
Ron Fleischer (21:46):
Yeah, that's right. I'm the co-chair for the 2018 hgs, a annual scientific meeting, which is very exciting. First time it's been in Sydney for a while. And we're at the new convention center at Darling Harbor. And I, I sort of put my hand up to be the, be the co-chair because I, I kind of wanted to have some say in the agenda. And so, you know, we're, we've got a whole day dedicated to screening, not just preconception screening but screening for cancer risks and newborn screening. It's a really hot topic at the moment. We've got some international speakers coming to run some workshops on how to interpret variants when you do a exome or a genome analysis. So, you know, I just looked at the program the other day and just from morning till night every day, there's just back to back really exciting things happening.
Matt Burgess (22:39):
Oh, that's fantastic. I, I love, I mean, I said in the last podcast, I'm a bit of a nerd, but I love going to these genetics conferences and it's so exciting when you look at the program and, you know, at every single time slot there is an interesting presentation that you wanna see. So. Yeah. Yeah. yeah. Thank you. That sounds like a, a, a great conference that you're sort of putting together.
Ron Fleischer (23:03):
Mm-Hmm. There was I, I think what, what is shaping up to be a, a, a highlight for me, we've got a, a speaker who's coming over from from Perth name is Rachel Calendar, worth checking out online. And she's just got the most interesting story. She had a, had a baby who was born with multiple problems and she subsequently died. And in the course of that it turned out that she had a chromosome issue. And then Rachel's really run with this and is trying to get health professionals to think about how they, how they talk about disability, how they deliver news, things like that. I, you might even hear that I'm in the words I use cause I just think, oh, you know, I've gotta make sure I say the right thing. But you know I think Rachel, Rachel's gonna give, give us a, a phenomenal presentation just about making sure that we, we don't always have our clinical hat on and that there's, you know, empathy and, and, and humanity in everything that we do as well. Yeah. So I'm really looking forward to hearing from her.
Matt Burgess (24:08):
Oh, that sounds fantastic. I, I mean, I think that that is a real strength, a real skill that genetic counselors have to be able to take that, that medical information and make it personal and make it relevant for our, our clients in front of us. But what is getting me excited about what you were talking about with the conference is, you know, it's not just a forum where we all just get together and talk about interesting things, but then we don't take it back, you know, into our practice. But it sounds like sort of the program that you guys have put together means that not only are we kind of getting sort of the cutting edge or you know, that sort of best practice information, but it we can take it back to our units and, and, and make it relevant for the people that we're seeing.
Ron Fleischer (25:00):
Yeah, absolutely. And we're, we're sort of at a point where, you know, we, we need a national approach to these things. Like none of this stuff is gonna happen in, in isolation just in Sydney or just in Melbourne or just in Perth, but we're a small population and we need a national approach to how we're going to tackle genomics and integrate it into, into healthcare. It's not just gonna happen in one local health district there, there really needs to be some vision and, and, and some leadership. And I think that that's the kind of thing that grows out of the, the annual meeting.
Matt Burgess (25:32):
Excellent. Well that sounds like you're quite passionate about that, so that is really good. Okay. Well thank you so much for your time today. We might finish the conversation there if that's okay.
Ron Fleischer (25:46):
Yeah, no, it was, it was nice to have a chat. I could I could talk all day. So yeah, probably a good, good idea to, to wrap me up, but I'll I'll head back to the pool.
Matt Burgess (25:54):
Excellent. I'll, I'll let you get back to those poolside cocktails and yeah, fun with the family.
Ron Fleischer (26:00):
Alright, thanks very much Matt. Nice to talk to you.
Matt Burgess (26:02):
Thanks Ron.
Ron Fleischer (26:03):
Okay, bye
Matt Burgess (26:04):
Bye. Excellent. I might just say and hopefully we can put this in, but yeah we're both genetic counselors. We both see people privately. And if you've heard anything today that is making you think maybe you would like to speak with a genetic counselor, please get in touch and we'd be happy to see you and help you work through these issues.