Matt Burgess (00:08):
Hello and welcome to Demystifying Genetics. My name's Matt Burgess, and I am a genetic counselor in Melbourne. And today on the podcast I have associate professor Christine Barlow, Stewart, senior genetic counselor in Sydney, Australia. Chris graduated with a Bachelor of science from the University of Sydney, and then went on to do a PhD in plant biology in the late seventies. She was one of the first certified genetic counselors in Australasia and gained her fellowship of the Human Genetic Society of Australasia in genetic counseling in 1991. And I'm really excited to have Chris on the podcast today. On this podcast we talk about genetics education and the evidence base for genetic counseling research. Okay. And hello Chris. I'm really glad to have you as one of Australia's first certified genetic counselors. I think it's an honor to have you on our podcast, and
Kristine Barlow Stewart (01:17):
Thanks
Matt Burgess (01:18):
You. Yeah, I, I'm looking forward to our, our conversation today. But when people think of Christine Barlow, Stewart, I think we think of genetics education in Australia. And I was just wondering maybe to start the conversation, if you can tell me sort of what you are interested in at the moment, what you are looking at and, and what sort of taking your, your focus in genetics education.
Kristine Barlow Stewart (01:44):
Look genetics education underpins genetic counseling. So it's, and currently I'm teaching training genetic counseling students in, in the master's degree. But you know, their, their practice and the practice of every genetic counselor is really to be able to provide information to the patient's, clients, families that they are working with in a way that the can be understood to enable these decisions to be made on an informed basis. So my, my focus in genetics education has never changed really. Mm-Hmm. <affirmative>, I mean, that's what I believe is, is integral. I know that the center in the last few years has moved has moved more to working with health pro professionals as I guess the first responders in this genomic age. But I, I have always believed that that education needs to be concomitant with public education. Mm-Hmm. <affirmative>, but I guess there's only so much that you can do at any one time.
Matt Burgess (03:04):
Excellent. And so you've got a cohort of genetic counseling students that are in their, their second year or their, their final year of the masters of genetic counseling. And each one of those students is doing a, a research component for that degree. Do they, are they all looking at really varied things like across, like lots of different areas? Or is there sort of a common theme of what the students are, are studying at the moment?
Kristine Barlow Stewart (03:34):
No, look, it, it's, it's incredibly varied. Some have a focus on genetics education with the development of one student is developing a booklet for clients with intellectual disability and their carers Wow. To explain what genetic counseling is. Another one is looking at a brochure for in, in for con congenital heart disease for families. So, you know, that's, that's certainly two, two projects. But I, I have others who are looking at the use of genomics in the nicu and in, in early childhood we've got those who are interviewing people who are looking clients, families who are, whose data is on a shared DA database in New South Wales. And whether that is of concern, I've got a student who's got a survey about insur life insurance. I, I've got 15 research projects on the go at the moment, my students,
Matt Burgess (04:53):
Yeah, they all sound
Kristine Barlow Stewart (04:53):
Fascinating. I'm involved, I'm involved in all of them, <laugh>.
Matt Burgess (04:57):
Oh, that's great. No, they, they all sound really, really interesting. I, I know you were the the supervisor, the PhD supervisor for one of the most interesting PhD studies out there, I think. And that was with Dr. Jan and Caritas. Oh, yes, yes. I remember he did, yes. When I was working with her, or sort of when we were both working in Sydney at the same time, she was doing her PhD with you. And I just loved that she was, she was, if I'm right, she was looking at babies born with pre-implantation genetic diagnosis.
Kristine Barlow Stewart (05:36):
That's
Matt Burgess (05:37):
Right. Yeah. And she, she had like this beautiful board up with tracking where all of her babies were up to and who was being born. And I just thought it was so fascinating.
Kristine Barlow Stewart (05:47):
Yes. And, and I, so she did a mixed method study, which is a lot of the, which I think is, is the most mess methodology you can use in in, in this sort of work where it's combined to both qualitative data to inform quantitative data. So she did interviews with women and you were going through the phbt D process. And from that we were able to develop a very robust survey so that you, you can then generalize the findings much more from a survey than you, you can from qualitative data. But the, the qualitative diet interview diet is always so, so rich. Mm. And, and, and certainly that's what I encourage my students to do. And you know, in, in some cases like for instance, I had a student who was interviewing those who've gone through Huntington's Disease Pro programs predictive testing. And from that we developed a survey that went Australia wide. So, you know, it's, it's, I I think you really don't know the questions to ask in a survey unless you've got some good grounding and understanding. And that's what the qualitative data gives year.
Matt Burgess (07:11):
Excellent. Yes. And I mean, for someone like yourself that has worked in clinical genetics or genetics education in the Australian setting for a while now and also very
Kristine Barlow Stewart (07:26):
Long while <laugh>,
Matt Burgess (07:28):
I'm feeling like I did to be careful.
Kristine Barlow Stewart (07:29):
You, you, you, you were actually being very tactful. Yes. <laugh>.
Matt Burgess (07:33):
I, I'm trying to be very, yes, very respectful there. But you know, the way that you have observed how clinical genetics and genetic counseling as a profession has changed must just be amazing. And I think at the start the effort to sort of just get clinical jobs out there would've been so important. But I think one of the trends now, or one that's sort of becoming more and more obvious to me is the need for really good research, genetic counseling research to be undertaken and to be published. And I mean, I know that you're gonna say yes, but, you know, is that something that you'll agree with or, you know, could you sort of talk to me a little bit more about that?
Kristine Barlow Stewart (08:19):
Look, it is still very hard to get genetic counseling research published. So for ex example I've just submitted a paper to the journalist genetic counseling, which has been accepted to be sent for a re review. And it was an interview study with 21 couples who had been offered whole exome preconception screening and what their views were about the, the, you know, whether we should in implement such a program, it's acceptability, the clinical utility, et cetera. And those couples were offered genomic screening mm-hmm. <Affirmative>. So we did the interviews with them before that they were decided whether they would have genomic screening or not. And we submitted two, two papers. One about the exome screening and the results of that with Edwin Kirk is a clinical geneticist at the Sydney Children's Hospital at Randwick. Mm-Hmm. <affirmative> as the lead author. And the other paper, the qu qualitative paper which after which I was the c senior author. And we submitted them as papers side by side to genetics and medicine. And the molecular paper, if you like, was accepted immediately, well, you know, sensory review, but they rejected the qualitative paper Oh.
Kristine Barlow Stewart (09:57):
Out of outta slack. So, you know, we've, we've now re resubmitted it to general of genetic counseling. But, you know, it's, it is, it's still, there are, there are that many journals that will take the sorts of studies that, that we, we do and publish there few specialized ones, European Journal of Human Genetics Stars patient education and counseling you know, journal of Genetic Counseling. But they are just a handful. So it is, it isn't easy to get published in this area, but more importantly, it's incredibly difficult to get research funded in this area. Mm. I mean, I, I know getting research funds is difficult per se, but it's even harder with this sort of research.
Matt Burgess (10:44):
Yeah. Which it's a bit, it's a bit disappointing. And I, I'm hoping, you know, I'm still trying to keep positive and I think that hopefully, you know, that is changing a little bit. But yeah, fingers crossed that we can sort of increase that amount of research because, you know, it's definitely interesting and it's really important that you know, that sort of ends up in the literature. Well,
Kristine Barlow Stewart (11:09):
Look, I, I, I, the reason I think it's important is that our practice needs to be evidence based. And we can only do that by looking at our, at our practice and being very critical of our practice and learning from it. So one of my students is currently analyzing audio taped sessions of their polygenic risk results are being returned for breast cancer. Mm-Hmm.
Matt Burgess (11:40):
<Affirmative>.
Kristine Barlow Stewart (11:42):
And, and you know, that's, that, that is important. Cause it's a whole new area of genetic counseling. And a a, a study was done you know, 15 years ago similarly when we were first starting out with returning results about the RCA one and two. But you know, we, we sort of, you know, do that now you, because that's that sort of standard practice, but explaining polygenic risk is a whole new era. Mm-Hmm. A whole new way of thinking and talking about it. So we, we, we have to be prepared to take part in these studies as well, be be willing to put ourselves up for analysis and and we have to be brave to actually do, do that. But I think that's the only way we're gonna learn.
Matt Burgess (12:33):
Mm-Hmm. Now changing topic slightly, I over the week, I, I listened to another podcast that, that you were in, and, and one of the things you said that genomics is ending the diagnostic odyssey. And I found that a really interesting sort of little quote or little snippet, and I was wondering if you can sort of just comment on, I, I don't know if you remember saying that, but if you could sort of talk to me about what the Diagnostic Odyssey is and how you see the new genomics as sort of changing that.
Kristine Barlow Stewart (13:08):
Sure. I, I, I think we have to be careful about it. It using such, perhaps, hopefully, I said for many people, the diagnostic Odyssey is ending because we, we still, you know, there are still lots of un unknowns, but our, our capacity to interrogate the a, a person's genetic diet or genetic makeup or genetic in information is enabling us to give answers to families about what has caused the condition. And for many of these families, it has been years and years and years of not knowing what has caused the problem. And they have gone from doctor to doctor questioning all the time, often blaming themselves for something that they might have done or didn't do during, during pregnancy. And then being very concerned about having further children because not wanting to have this happen to them again, but with this increased technology that's cheaper and faster, faster, we can get answers for many more people than we could before. But I think we have to be very careful about managing expectations mm-hmm. <Affirmative> in this area, because, you know, we still can't give answers to everybody. And I think, I think there is a lot of hype around it. There's been a lot of hype around genetics ever since I've been working in the field. <Laugh>.
(14:52):
Yes. But I, I, I think there's still a lot of un uncertainty, and I think we have to be very careful about what we promised.
Matt Burgess (14:59):
Mm-Hmm. Yes. But I remember when I finished genetic counseling studies a a about 15 years ago a lot of people saying, oh, you know, you're getting into genetics at the right time, Matt, you know, the field, it's about to boom. And I don't think that that boom actually happened until, you know, just in the last two or three years. But genetics is becoming you know, more and more in the mainstream media, it's in social media, it's in you know, sort of the TV shows that we watch. And I think that this idea of managing people's expectation is, is really important. I think that people think that you know, although genetic testing is fantastic, that you know, it, it doesn't always answer the question that they may have. And that can come as a surprise sometimes.
Kristine Barlow Stewart (15:55):
Yeah. Because I mean, intuitively you, you would think, well, you're looking at all of this, well, I can't, you give us an answer. And, but, you know, it's just, we still, as you know, just don't even know what we're looking at sometimes. Mm-Hmm. But, but it's, it's the linkage too of what we're seeing in front of us, the presenting symptoms, the evolving symptoms or signs in, in, in a person or a family. But we, but it's still so important to be able to link what we're seeing in the DNA to what we're seeing in front of it. And we can go down the wrong path in interpretation and give what we think is an answer to a family. And that's what really concerns me when we get it wrong, and how, what responsibility we have to contact those people that we've given an answer to and say, I'm sorry, we told you it was a pathogenic variant, but now we know that it isn't the cause of the problem. Mm. And it might have been something else. And I, I worry about that, that people have taken, have made the decisions, they might have undertaken risk reducing surgery. They might have terminated pregnancies on the basis of wrong information, given in good faith, but with limited understanding on our part or limited data that informed our understanding. So, you know, I I, I think we've got some hurdles still to get over.
Matt Burgess (17:46):
Yeah. And, you know, I, I think it's important that said, you know, it was given in good faith, and it's like the, the test result hasn't actually changed. It, it may just be our understanding. And you know, when we find these variants of unknown significance, like, you know, when the lab says Yes, we found something. And when I'm sort of explaining to my clients at work that, yes, the lab has found something, but we dunno what it means yet. And I think that that's a really hard thing to sort of explain to people that we're not sure what it means. You know, maybe it is the answer, but it may not be at the same time, and we really need to just wait and, and, and see whether this falls out as being disease causing or not.
Kristine Barlow Stewart (18:35):
Yes. And, and so in fact, one of the things that I talked to my students about is the management of uncertainty, and that that is a major role that they have to not of course manage uncertainty for their, for their clients, but to help their patients and clients un manage it for themselves. Mm. Because uncertainty is, it's, it's, it's a difficult state to be in. It's, we all like to be in control. And of course, the, you know, a a major outcome of genetic counseling is increasing a person's perception of perceived control. And if, if, if we can, you know, help in giving them some sense of control, that's an important outcome. But often we are not doing that. We are leading them with even more uncertainty. And, and, and I think that's something that we need to recognize. That's some, that's an, that's an outcome that we, we need to manage.
Matt Burgess (19:43):
Mm mm. And another thing that you sort of mentioned a little while back, but it was something that I wanted to sort of come back to was the, the idea that parents often have blame and guilt. I think that it, it's really common when parents have a child where there may be something wrong with the child. And it, you know, it's a natural thing. It's something that we see all the time in genetics that parents are, you know, are wondering what they've done and how it was their help. And it's amazing to see that when a, a genetic diagnosis has been made, it actually alleviates or takes away that guilt and blame.
Kristine Barlow Stewart (20:29):
Yes, indeed. And, and, and people have sometimes lived with that for years and years and years. And so, you know, we've got someone who's, you know, 30 and, you know, parents who might have a, a, a son, a daughter who's 30 or 40, and we are returning results to them. And some might say, well, you know, what's, what's the point? Because that was such a long time ago. It is still important because that parent, you know, has been living with that guilt for 30 or 40 years. And so if even at this time, we can, if we can alleviate that, and I have seen, you know, a a, a person, a mother in her seventies, you know, his, his whole demeanor changed when we were able to say, this is the cause. It occurred spontaneously, it was de novo, you know, it was nothing that you did. Mm. And I, I think that's an incredibly important role and, and gift that we can give to these things.
Matt Burgess (21:39):
Yeah, definitely. Like, imagine sort of carrying that guilt and blame for yourself for 70 years. Like Yes. That, that's huge.
Kristine Barlow Stewart (21:48):
Yes. It's,
Matt Burgess (21:50):
Mm.
Kristine Barlow Stewart (21:50):
It's,
Matt Burgess (21:52):
And so another thing that you I heard you say, which was something that I, I didn't know I, I know that you have been involved with your work over the last few years or many years about screening different communities in, in, in Australia, and you've been involved with carrier testing in the Jewish populations and like in, in the schools in Sydney. And something I didn't realize was that there's been no child born with sa TAC since screening started. Yeah. I, I, I thought that that was an amazing you know, quote or an amazing thing to, to know.
Kristine Barlow Stewart (22:39):
Well, that's, you know, we start, we've been screening in the high schools in the Jewish community since 1995, and there's been no child born with K sacs to any couple or that participated in the screening program. There have been children born with K Sacs in Australia, but not to any, anyone who participated in, in the screening. So look, and, and the Australian government has just committed $20 million to a three year program for offering preconception screening or screening in early pregnancy to 10,000 couples in Australia. Wow. but, and part of that the reason that it was, I think it was funded apart from the submissions that I was part of with Edwin Kirk and Tiki and and, and Nira Lang in WA and several others. There was a couple who had a baby mackenzie, who was born and died very young with spinal muscular atrophy mm-hmm.
(23:50):
<Affirmative> or sma. And it was their eloquency and their advocacy that they did not want this to happen to anybody else that convinced the government. So we, we are really in in a new phase now that we're gonna have to make sure that that program, if it is rolled out is rolled out well, that all the benefits are assessed appropriately, but also the risks, the limit limitations, and, you know, the, the underpinning it is choice. Mm. That you don't have to have this screening, that it is your choice not to, it is also your choice to have it, but we also have to make it equitable that there needs to be access to this. I know that in Victoria you have prepare and prepare plus, but you know, that's, people have to pay for that. Yes. And there are many in our community who are disadvantaged and, and they can't afford it, you know, so it's, you know, cost and ability to pay should not underpin their ability to have this information.
Matt Burgess (25:03):
Yes, I agree. <Laugh>
Kristine Barlow Stewart (25:06):
<Laugh>.
Matt Burgess (25:07):
So I mean, a a little bit of a, a different type of question, but what do you love about genetic counseling?
Kristine Barlow Stewart (25:17):
What do I love about genetic counseling? I, I love being able to walk alongside families and clients when they are dealing with the most difficult things in their life and having to make sometimes the most difficult decisions, and watching them use their own resources to make decisions that's appropriate for them. I like being able to reassure people who are concerned about the reproductive risk or their risk of developing something that it isn't. So and I am constantly learning from the, the resilience that the families that I am working with who, who just amaze me that they can manage life with so many that, you know, people would be bowed under by the, the everyday demands that they are facing. And yet they are, they're so resilient. So that's what I love about genetic being exposed to that you would not if you weren't working in
Matt Burgess (26:43):
<Affirmative>. Excellent answer. I, and I agree. I, I think that it's such an honor to be able to share you know, something that's so private with, you know, individuals and couples and you know, being able to work with families and you know, sometimes the interaction is, is quite short. It might only be one or two sessions, but sometimes we work with families for years and it might not be sort of intense, you know, weekly appointments. But, you know, there are some families that we do see sort of ongoing. And I think that where we're, I feel really lucky that I've found this job that I, I really enjoy. And yeah, it's a
Kristine Barlow Stewart (27:26):
Good profession. Yeah. So I, I think it's a privilege as, as well, and I certainly tell my students, you know, that they to the things that are being shared with them and their ability to establish such re rapport that they are trusted with this in information. It's an honor really, and they need to be very respectful of that trust.
Matt Burgess (27:56):
Mm. So one last question for you. Where do you think genetic counseling is going, or where do you think that it, it needs to go?
Kristine Barlow Stewart (28:09):
Look, I think it's, it's going to be increasingly mainstream, but I, I think that it's still, it's going to be a niche profession for a long time because of the depths of training that is required. I know Melbourne are graduating 20 students a year, and within year, I've got a new course opening in Sydney that will also be doing that. So in 2000 20 there'll be 40 new graduates and 2021, another 40, et cetera. But that is a drop in the bucket that, you know, given the expertise that we've been talking about that is required with the rollout of this technology. So I think that genetic counselors will increasingly be working with health prac practitioners, not in the same way that they're doing now in genetic services, for example. I think that's where they will go, but I think that they're going to have to work differently. Mm. Because it's not possible to work in the way that they're doing now with the increased demand. I think there'll be increased reliance on tele telehealth more on online counseling. That's, it's going to change. I don't think we can keep doing working as we are doing.
Matt Burgess (29:47):
Yes.
Kristine Barlow Stewart (29:48):
That's my view. What, what's yours?
Matt Burgess (29:50):
No, I agree. Like, I think that the, the need for genetic counselors is definitely increasing. And you know, one of the themes that I've sort of brought up with a lot of my guests on this podcast as sort of mainstreaming genetics. And we know that genetic testing has been ordered in, in many more sort of areas like you know, genetics used to be the gatekeepers of ordering tests, but now it is becoming more mainstreamed. And and the issue that bring that brings up is sort of the pre-test counseling versus post-test counseling and, you know, are we able to spend the appropriate amount of time talking to people before they have the test? And I think that the way things are going is that more and more genetic tests are going to be ordered, and maybe the, the consenting process isn't going to be perfect, but hopefully we can play a really major role in that post-test counseling with families when something has been found. And you know, we are answering a really important question for them.
Kristine Barlow Stewart (30:58):
So look, I mean, we've, we've got some data about that so that, you know, when, you know, treatment focused genetic testing for breast cancer was, and ovarian cancer was in introduced to, to guide surgical decision making and, and increasingly chemotherapy you know, it, it just, it, it just wasn't, wasn't possible for us to be able to provide all the pre pretest counseling and moreover, the women we interviewed, and then again we took that into a survey using the sort of meth methodology that I talked about before. The women didn't, the women wanted their, their surgeons or their oncologist with whom they already had a relationship mm-hmm. <Affirmative> to talk to them about this. And, and then, you know, when they wanted to discuss later after their surgery, if they were found to have inherited the pre predisposition, so it was an inherited breast or a ovarian cancer, and they wanted to talk about the family things, then they could talk about it with genetic services later.
(32:07):
But, you know, the, so we, we developed a, a brochure that the surgeons and the oncologists could, could use. And that has been proven to be perfectly effective in the pre-test education and counseling. But the post-test is where genetic counselors are needed, that's where their skills are needed. So we we're gonna have to use more and more genetics education, I think, in the pre-test, but it needs to be simple. Mm, needs to be in the right language. We need, we need to be, like Anna Anna Middleton in the UK has developed all these YouTube videos, which is fabulous. You know, we, we need to use more and more of that tech technology and innovations, something like these podcasts for example. You know, make sure that we are, you know, giving the information, but it's the impact of that information or the decisions where genetic counselors are needed.
Matt Burgess (33:05):
Excellent. What a great place to finish up. I'd just like to say thank you very much. I've really enjoyed demystifying genetics with you, Christine Bellow Stewart today. And yeah, I look forward to this podcast going live.
Kristine Barlow Stewart (33:21):
Okay. Thank you for having me, Matt.
Matt Burgess (33:24):
Okay then. Love to talk to you. Take care. Bye-Bye.
Kristine Barlow Stewart (33:25):
Okay, bye.
Matt Burgess (33:28):
So Chris and I covered a lot of topics today, and if you've got any questions or comments as always, you're very welcome to get in touch. I have the information in a fact sheet, and that is hosted on my website, so you can check that out@insightgenomiccard.com au. Thank you.