Demystifying Genetics with Yasmin Bylstra

I had the pleasure of catching up with Genetic Counsellor Yasmin in this latest podcast. Yasmin discussed many issues related to genetic counselling including pharmacogenomics and genetic conditions hypercholesterolemia and cardiac genetics. 

Transcript

 So welcome to Demystifying Genetics. Um, uh, my name is Matt Burgess. I'm a genetic counselor in Melbourne with, um, a private practice called Insight. And today I have Yasmin, who is a genetic counselor, living and working in Singapore. Thank you so much, Yasmin, for being here. You're welcome. So a little bit of your background, um, so you are quite a sciencey person and you graduated with honors in a science degree from Monash University in Melbourne in 1998, and then went on mm-hmm to do genetic counseling at the University of Melbourne in 2007, and you became certified in genetic counseling in 2014.

Yes, that's right. Yeah. Wow. Mm-hmm. And so your, you have been living in Singapore for about the last, is it six years now? Yeah, five and a half years, yes. That's correct. Mm-hmm. Wow. Okay. And so tell me, what, what are you doing in genetics at the moment? Moment? Right. So, um, when I arrived here, I guess, um, there wasn't, It wasn't as diverse, the genetics.

Um, and a lot of the information that, um, I guess our reference points was coming from Caucasian populations, uhhuh, but, um, the population here is of Asian ancestry, so we've been trying to collect a lot of data from, um, people living here. So they're phenotypic data. Um, they've been getting a health screen and we've also been doing MRIs to look at well, What does, I guess, a, a normal Asian person look like?

Uhhuh, we've been collecting family history and also whole genome sequencing. So what does the whole genome, uh, d n a sequence look like? And with this we're trying to understand in. Asian populations, what are genetic variants, which are normally, normally occurring, and also what are ones which are disease causing.

So I guess that's what I've been spending, been spending the last couple of years doing Uhhuh. Um, and, and we're returning results back to people that are interested as well. So these are, Healthy people coming in as volunteers. And then we are, um, giving back information about either a potential genetic condition that they might have, which they haven't realized, such as hypo, hypercholesterolemia, uhhuh, or a genetic condition, condition that they might be at risk of developing.

So a cancer condition or a heart condition, um, or perhaps they're a carrier, um, of a genetic condition. And we've also been looking at, um, pharmacogenomics. As well. Wow. So, um, genetic variants that, um, people, um, that will influence how people respond to drugs. Yeah. So, so you have just mentioned about a hundred things that I would love to talk to you in a bit more detail.

Um, pharmacogenetics is definitely something I, I wanna talk to you a bit more about and I might just Okay. Put that off for a second, but mm-hmm. My understanding is, so when you are sort of talking about. About variants. Um, so I guess, um, in other areas of medicine, if you did, um, like a, a cholesterol check or an iron level check, or you looked at someone's sugar levels, it wouldn't matter what race or what, uh, ethnic background was, it would just be the same from, from all over the world.

Whereas w with genetics is there, is there, are you saying that there's variation between different races? Yes, that's right. So there is variation and we're actually also finding that there is a little bit of variation. Um, I guess if we go back to outside genetics, um, like what does a normal heart look like?

So the dimensions are different in Asian populations. So uhhuh, all the criteria that, you know, doctors use to diagnose a condition are a little bit different here. So we're collecting information. About that. Um, and then also going to the genetic variants. Yes. So genetic variants that might be really rare in, um, in Caucasian populations or Europe.

You know, people with European ancestry might be really common here. So, um, there have been some, uh, some literature now, um, particularly in cardiology. There are people in, uh, with a European background have been diagnosed with a, a heart. Condition, um, associated on genetic information. Whereas in our populations, these variants are really common.

So it's actually not, um, associated with the development of a genetic condition. So we are finding that, yeah, genetic variants are, um, Ancestry specific. Wow. And so I don't know many genetic counselors that are actually doing that type of work. Like is is that sort of what clinical work is in Singapore or is this part of research or, um, yeah, so, um, So, yes, so I guess I'm heavily involved in research in Singapore, but then there is that clinical arm that we are returning results and, um, that then goes through a clinical pathway.

So I guess I'm babbling in both research and clinical work. Um, I would say that most of the genetic counselors here do work in. More of a, a clinical setting uhhuh. So in pediatrics and cancer is, um, the two that are quite strong. And I guess my clinical arm is cardiology uhhuh, so I also have clinical cardiology clinics.

Um, but we're also, I guess, uh, There is no, um, refunding for genetic testing here. So we do do a lot of the genetic testing through research. So then there's no out-of-pocket costs for, um, patients here, Uhhuh, um, or it comes from donations as well. So I guess that changes the way that we practice over here a little bit too.

Yeah. So we're just trying to make, trying to make, I guess, um, Genetic services as accessible as possible without being too expensive. Uhhuh, I, I know in, in my role, I really like the diversity. I, I like that when I go to work, I, I'm doing something a little bit different every day and, you know, sort of different areas of medicine and, um, different sort of genetic counseling practices.

And it sounds like the work that you are doing sounds really varied as well. It is. Yeah. So I mean, I, I worked more in an adult onset environment, um, and I guess with the specific focus of cancer and cardiology, but, um, it's definitely d d diversified and also, I guess, um, The clientele is diversified as well, because I'm now seeing people that are healthy as well as people that, um, have a family history of genetic conditions or affected by a genetic condition.

So, yep, it's definitely, um, very mixed. The type of work that I do here. And, and so how does that work when you are meeting with healthy volunteers that are, you know, these are people that have, have volunteered to be involved in, in genetic research, and you are meeting with them saying that mm-hmm.

They're actually, you know, I'm imagining you are giving them news that they wouldn't be expecting. Um, I, is that sort of how it works? Yeah, that's right. Yep. So we do, I mean, when they, when they sign up, we do give them information about, we're doing some genetic testing as well as the medical screen. And this is the type of information that you may receive.

Um, and it might be an inherited, uh, genetic conditions we're returning results where, um, people can actually do something about, you know, so there's some sort of value for knowing. So some. Screening or medical intervention, Uhhuh. Um, and then, yes. So those that consent, interestingly, most people are consenting to receive this information.

Yeah. So, um, so then yes. So then I am returning, um, genetic variants associated with conditions such as, you know, cancer and cardiology or cholesterol, um, to people who, yeah, where there isn't really much of a family history. Um, And there may not have been a medical indication for that as well. So because the people that are being recruited, were recruited as healthy people.

Uhhuh. Yep. It certainly is, um, surprising news that we give back. And, and how does that conversation go? I, I, I would imagine that, um, on average a lot of people would sort of have similar reactions. Um, can you tell me sort of what those reactions are like? Yeah. So, um, I guess this is a biased cohort in that these are people that are volunteering to undergo, um, you know, a medical health screen and they're volunteering to receive this information.

Um, but they actually are coming back and thinking that this information is valuable for them to know. So I haven't really had anybody who's expressed that they've been regretful. Um, they've all gone on to do a clinical validation as well, so it moves into the clinical arena. Yeah. And then gone on to, um, do the, do the clinical health checks.

I've had one or two where they've decided that, um, you know, this information. They don't think that their family members would be interested in hearing and they've had a bit of difficulties communicating this information to their family members and that family members, um, don't really want to do anything about it.

Um, and I think that's, That's kind of, um, not so surprising, particularly if you're giving information about a genetic condition that might not have already been known in the family where there's no family history. So, yeah, and I would think that one of the strengths of this research or this study is that genetic counselors are involved.

Um, you know, not only are you sort of giving results, which anyone could do, but as a genetic counselor, you have. Skills in communication and family dynamics and, and sort of having that conversation. So, uh, um, you know, you kind of just described cases where maybe there is an issue with family dynamics and I would think mm-hmm.

That having a bank, a background in genetic counseling would be an advantage there. Yeah, definitely. And you know, as you know, we can have continual contact with people as well, so how they respond one day might be different. So we keep in contact, we send out information and appointments. Summary appointment letters and letters that they can give to their family.

So no, this is ongoing. Um, and, and these people are always welcome to contact us, um, should they change their minds about anything or want more information. So, yeah. Excellent. Yeah, definitely. And now if we can come back to pharmacogenomics, um, you sort of mm-hmm. Mentioned, you know, that word. It's a big word.

And, um, um, I know when I'm sort of explaining it to people, I kind of say, you know, we all sort of have different reactions to different types of drugs and sort of, the example I use is, um, uh, caffeine. So I know that when I have a coffee, it, it does. Kind of make me a little bit perky or, you know, it does keep me, um, you know, it kind of lifts me up, but I could very easily have a coffee and go straight to bed and have no problems falling asleep.

Whereas I know that there are some other people that, um, you know, they can't have a coffee after three o'clock because they just won't be able to get to sleep. Um, mm-hmm. Can you tell me a little bit about pharmacogenomics and how you explain what it is and what, how you're sort of involved in it? Ah, so, well, I haven't explained it in that way, but maybe I should, um, adapt to that approach.

I guess I'm a little bit more, um, medical when I, no, um, you know, that's probably more appropriate, but, um, yeah. But, um, no, I just, I, well, so we're looking at, um, there's maybe 40 or so genetic variants and they're associated with, um, so these are, um, associations where, again, there's quite a lot of, um, evidence that they are causing an effect if a particular drug is given.

So we screen for these 40 variants and then, um, look, everybody has, even out of the 40 variants, everybody has. Between two or five or six different variations, Uhhuh, um, which will then, um, determine how they might react to different medications. So the type of medications are, um, statins or immunotherapies.

So is if you were to develop a cancer later on, will this particular, um, This particular drug might not be so useful for you, or you might have a particular reaction. So we list them down, Uhhuh, um, on the, on the genetic report, and then we just go through them. Um, and then we're also, so what's. Uh, so a statin, um, is when somebody has, um, high cholesterol that they might be given this type of medication to lower their cholesterol.

Okay. Yeah. And this is quite, this is quite significant in, um, particularly in Singapore, um, where high cholesterol is. Um, Quite common. So, um, this is a, I guess this is a pharmaco variant, which is, um, quite relevant, uh, relevant to a lot of the population here. Um, and then, so they don't have to remember all this information.

We're now working with a, uh, A company which has made a, an app on the phone. So if volunteers consent, we can now, um, give this company just their, um, their drug response variance, and then they can type in the drug if they've been prescribed. And then this will tell them. If it's a suitable drug for them to take or not.

Yeah. Okay. Mm-hmm. I know, um, in my private practice, I, I offer my clients a pharmacogenomics product. I think it's the, um, one of the best ones on the market. It's through mm-hmm. An excellent lab, um, based in California, in America. Mm-hmm. And, um, I stand by the science. I, I think that this is a, a clinically relevant, um, test, and it, it is.

Um, you know, it, it's irrelevant. It's a good test. Whereas I kind of feel like, um, pharmacogenomics is still seen as sort of on the fringes of genetics or, you know, it's not too relevant to kind of current medical issues. But I think it's one of those areas where, Of course it's going to be relevant and it's only a matter of time before anyone who goes to hospital is going to have one of these tests.

Is that sort of the trend you're seeing? Yeah. Um, uh, not so much the trend that I'm seeing, but it's something that I do really believe in because there's a lot of, um, hospital admissions because of, uh, adverse reactions to drugs. So it's something that I am quite passionate about. Um, I think it's quite an easy test.

We're not talking about something that's inherited anymore. Everybody has different variants and will have different drug responses. So if we can help minimize adverse. Um, effects when drugs are given, then I think that's, you know, can only be a good thing. So, mm, I do think it's a matter of time. I think there's a lot of, um, global initiatives as well where, um, They are trying to encourage, um, people to have pharmacogenetic tests so that it helps with the administration of drugs.

Yeah, yeah. And we're talking a lot about that in Singapore as well. And how can we, um, input these, this information to medical records so it does flag up immediately when somebody. May not be suitable for a particular drug. Yeah. It, it just kind of makes sense, you know, like mm-hmm. If someone is sick with, um, a particular condition and there's, there's a number of different drugs.

I, you know, in the past, the, um, the idea has just been to give everyone the same drug and we know that, um, that's right. That drug will work well with some people but not with others. And if we could do a simple test at the start to see. Which medication, um, a certain person will respond to the best. Like, I just think that, that, you know, it's almost a no-brainer that that's kind of what we need to start doing.

Mm-hmm. And the, and the test itself is not so expensive either, so, you know, it could ultimately be accessible as well. So it's quite different to other tests that we're, um, that we're offering for inherited conditions. These tests are, I think, uh, Quite affordable. So hopefully, um, there will be a, a bigger uptake, you know, amongst the hospitals and, and health systems Yeah.

To drive this forward. Yep. So you, um, apart from your, um, or alongside your research, you said that in your clinical work in Singapore, your working a lot with inherited, um, cardiac conditions. Yes. Um, can you tell me a little bit more about that? Um, yeah, so I'm working in, um, so there's two. Uh, heart centers based in the two public hospitals here.

So, um, I'm really, I've just been starting up these clinics over the past few years. Um, so working with the cardiologists. So a lot of it is about educating cardiologists about. When, um, an appropriate referral, um, may be made. And I do spend a lot of time talking to other medical practitioners as well about, um, cardio genetics, and.

And then, um, meeting with patients. And I would say that a lot of the time, um, cuz awareness is not as high here, say, um, as in other countries. So a lot of the time is spent around, um, education, about just basic genetics concepts and how things can be inherited and how genetics can have an impact on individuals and their family members uhhuh.

So, yeah. Okay. And so that sounds like a, a, a big component of your job is actually education. Would that be correct? Yeah, yeah, definitely. Yes. Yeah, so, and I, and I think this is something that I would like to focus on this year as well, um, education. I think particularly with healthcare professionals, I'm finding that, um, more and more healthcare professionals are ordering genetics tests.

Um, there's no regulation over here about having to go through a genetic service uhhuh. Um, and you know, the genetic reports now are just becoming more and more complicated. So I'm finding, I'm starting to spend a bit of time, um, going through the genetic reports with, um, healthcare professionals so that they understand.

What the report is saying, and then also what the implications are. So what does this result mean for their, um, for their patient and then family members as well. And what options do their patients have with this information. So I think for me, this will be, um, uh, a big focus rather than trying to say build up, you know, genetics centers where we receive referrals.

I think, um, I might spend a bit more time now trying to. Uh, go to healthcare professionals, as I think that genomics here will become more mainstream in the medical system. And what I was going to say was, um, I think that a lot of people out there that, um, you know, w that don't know a lot about genetics or a lot about medicine would just assume that mm-hmm.

If a doctor ordered a test, They would then be able to, um, interpret the result, you know, a, a result is issued, um, you know, it's a, a printed piece of paper or, you know, the result is on the computer. Yeah. Are, are you kind of saying that, um, your skills as a genetic counselor, um, like part of your role is you would then be able to explain that to doctors that don't necessarily understand everything about the tests they've ordered?

Yeah. So, um, yeah, as I was saying, I think that the tests now becoming more and more complicated, um, as there's a lot more, um, genetic information. Well, gen there's a lot more Yeah. Genetics, uh, information which is being tested, and then a lot more, um, information is being produced on the report. So it becomes quite complicated for the, for the doctors to read through the reports and try and determine.

What information is significant, what information is known and unknown and, and what to do with that. And yeah, actually I spent some time with an ophthalmologist two weeks ago going through some reports that she'd ordered through, um, through an overseas company. And, you know, it did take us quite a while just to go through one report and, um, And, you know, I really had to go down to the basics as well to explain what it meant and Yep.

Certainly as a genetic counselor, these are skills that, um, that we bring, that we have an understanding of what this genetic information is meaning. That's fantastic. Yeah. Well done. Mm-hmm. Um, one of the things that I love about you is that you are, um, you know, keen to, to go to different conferences and to kind of hear Oh, yeah.

Um, sort of, you know, different, um, conferences around the world, hear what's happening and sort of, um, take that knowledge back and sort of to really use it and mm-hmm. One of the conferences, um, that you attended recently was, The Asia Pacific, um, human genetics conferencing, Bangkok, and Oh yeah. Mm-hmm. Um, do I, my understanding is that you sort of were talking about, um, how genetic counseling is evolving in Asia and sort of, um, our training in Australia or Australasia and how that, um, could possibly help in Asia.

I, is that correct? Is, is that what you were doing at that conference? Yeah, so I, I was. Speaking about, um, the genetic counseling, um, yeah. Qualifications, which are generated from Australia and. For genetic counselors that would like to go to Australia, how would their qualifications be recognized and how could, um, people work towards becoming certified in Australia as well?

Um, but I have over the past two years, it's really been quite, um, Quite phenomenal, the exemption of genetic counseling, um, education in Asia, which I think is fantastic to see. So countries now, like India and Indonesia and the Philippines, um, Malaysia are also, um, developing genetic counseling programs. So, um, and, uh, a Japan career, they've had very well established ones, so that's really nice to see that it's evolving.

In Asia as well. Yeah. And mm-hmm. Your, another interesting thing is, um, you know, as you're describing your work, it's like you've got, um, a finger in lots of different genetic counseling PIs and mm-hmm. Um, one thing that I know that you're sort of involved a little bit with is the supervision of, um, genetic counselor counseling students.

Um mm-hmm. Can you tell me a little bit more about that? Yeah, so there are, um, a few, uh, so there's a few genetic counselors. There's quite a few genetic counselors here that trained in Australia. Um, Singapore doesn't have its own genetic counseling training program. Um, so a lot of people have that part one.

So the first type of, um, certification. Mm-hmm. And, um, And so I guess I'm really trying to encourage people now to get their full certification. So I am supervising a, um, I guess not a genetic counseling student. A a genetic counselor. Yeah. So that she can com complete her certification, um, here in Singapore.

And there's, I'm hoping that, you know, she starts then a lot of people will follow. Um, and then genetic counseling students. So I did have, um, A genetic counseling student who was doing her, um, studies in Melbourne, and then she came over and did a project here, which was great. It was about family communication, uhhuh, because until that, that that kind of area hadn't been explored about, um, about how it, or if people, um, communicate.

Genetics information within the family. So that was really good to get some insight. Um, and yeah, I'm always happy to accept, um, genetic counseling student placements over in Singapore if anybody wants to come. Excellent. And, um, you know, you sort of touched on the, the certification process for genetic counselors.

You know, like, um, when you are out and about and you know, like I know when I'm sort of. Talking to different people or meeting someone for the first time and they say, um, oh, you know, what's a genetic counselor? Like, nobody really knows what genetic counseling is. And then to sort of be talking about our certification process.

Do, do you think that, um, becoming certified is important in our profession? Yeah, I do actually. Um, yeah, I do. I think I learned a lot from the process that just. Just gives a very in depth look into how you're practicing. Um, and also I think it gives us a lot of confidence as well. So, yeah, I do. Um, I have to say it was, I found it a hard log.

Um, it took me a long time, but, um, I do think that it is worthwhile doing, for sure. Yeah. Excellent. I know what your thoughts are on it, Matt. Well, no, I agree. I, um, I, I think, you know, I. I finished genetic counseling and then when I got my first job, I, I was really keen to, to start that process and, um, you know, the advice was to, to not even think about it for about a year.

So, And Mm. I finished my certification in three years. Um, so mm-hmm. I'm sort of one of the, the people that have done it the quickest out of, um, a lot of people, although most of us. Yes, yes. I mean, you know, I don't have children and, you know, maybe it was a. A little bit easier, but, um, yeah, yeah, it, it, it's a massive job, but I think that it really gives our profession, um, you know, legitimacy and credibility and Yeah.

I, I, I agree with you. I think that it's really important. Yeah. And also having this, um, you know, the board as well to, not to censor it, but you know, for regulation. Um, I think that's also really important that we have this strong, um, organization presence behind us as well, who are supportive through this process.

Yes. Okay. And um, I also heard, and now tell me if I'm incorrect, but you were granted a fellowship to, um, attend or to be involved with the European meeting on psychosocial aspects of genetics? Um, uh, yes. Yeah, I am. Yeah. Can you tell me about that? Well, I guess that's based on, um, so we've just had a paper published in Genetics and Medicine, and it is about, um, the data collection.

So developing this, um, You know, this database of, of genetic information, which we can then use to understand what genetic conditions are prevalent in Singapore, and then that helps just with, um, developing health policies about, uh, what genetic conditions we should be focusing on. So, um, I guess that's, Been helpful in, um, having a fellowship awarded.

So yeah, I'll get to present that information, um, in, in, at the European conference in June. Oh, congratulations. And I, you know, thank you. This is really exciting. I know that. You know, when I and my colleagues like you went to university and what we were taught about genetic counseling, um, you know, I think that we had really good training, but I don't think we kind of realized at the time as students how varied our jobs could be.

And yeah, definitely. One of my aims with this podcast is to talk to, um, you know, various. Um, genetic counselors and other people working in clinical genetics and sort of really having a good chat and, um, exploring the different issues. And I think that you've done an excellent job today sort of explaining, um, sort of the various areas.

It, it just sounds fascinating. Oh, good. Yeah. Um, I, look, I totally agree with you. When I studied, like when I first, um, became aware of genetic counseling, that was in my undergrad degree and I think it was. Pretty much the education was around, you know, two genes, BRCA one and BRCA two. So, um, it's certainly evolved since then.

And I think, um, it's great that we can now use our skills to work in many different areas and make, um, you know, make an impact. It'll help genetics become, um, more integrated into medical care. Excellent. Well, I'd like to, um, finish there and thank you very much for being part of this podcast. Um, we covered, um, quite a few different things and I'm going to type that up and put that into a, a fact sheet.

And I'd just like to say I'm a genetic counselor in Melbourne, but I see people in my private practice, um, from all over Australia. So if you're listening to this podcast and you have any questions or you would like an appointment about anything that Yasmin and. Or I said today. Um, please feel free to get in touch, but um, yeah.

Thank you very much Yasmin and um, uh, thank you. I'm really grateful. You're welcome. And I look forward to listening to your podcasts. Excellent. Thank you. I'll talk to you later. Okay. Bye-Bye.