Demystifying Genetics
This is a podcast series called Demystifying Genetics where I, Dr Matt Burgess, Genetic Counsellor interview other genetic counsellors, people working in genetics or people affected by genetic conditions. We chat about human clinical genetics, genetic counselling, ethics, pyschosocial issues and more. To contact me, please reach out at matt at insightgenomica dot au
Sponsored by TrakGene
www.trakgene.com
Demystifying Genetics
Demystifying Genetics with Sarah Long
This episode features a conversation with genetic counsellor Sarah Long, who shares her insights into non-invasive prenatal testing (NIPT) and its implications for expectant parents. We discuss the importance of positive predictive values, variations of unknown significance, and the ethical dilemmas faced by families navigating genetic testing.
• Exploring the evolution and methodologies of NIPT
• Clarifying the concept of positive predictive value in genetic testing
• Highlighting the crucial role of pre-test and post-test counselling
• Discussing the emotional impact of variants of unknown significance
• Understanding parental perspectives on knowledge versus uncertainty in testing
• Addressing the misinformation surrounding the MTHFR gene
• Reflecting on the ethical considerations of genetic screening and disability
Listen to the episode for an enriching exploration of genetics that concerns us all!
Demystifying Genetics is sponsored by TrakGene
https://www.trakgene.com/
Hello and welcome to Demystifying Genetics podcast. My name is Matt Burgess and I am your host. I am a genetic counsellor living and working in Melbourne, australia. In this episode, which is episode one of season four, I speak with genetic counsellor Sarah Long in Perth, western Australia. Join us for an interesting chat about her research and clinical genetic counselling dilemmas. Hello, sarah.
Sarah Long:Thanks so much for having me.
Matt Burgess:Welcome to Demystifying Genetics. It is episode one of season four. I'm really excited.
Sarah Long:Yeah, I've actually spent the afternoon listening to some past episodes, so I had a bit of an idea what to expect oh good, and I can see that you're sitting in the sun at the moment. You're outside and enjoying the the sunshine yep, I'm based in Perth in Western Australia and it's about 25 degrees, so it's absolutely perfect oh beautiful.
Matt Burgess:I'm inside in my study and I've got my beautiful dog Banjo next to me and I just hope that he doesn't see the cat next door and start barking.
Sarah Long:Well, I've got Loki, who's my puppy, out here and before he decided to scare off another dog so he was going absolutely off. So hopefully he doesn't arc up either.
Matt Burgess:Well, it's a very dog-friendly podcast, so that is fine. I'm really excited about our conversation today. I would like to talk to you about all things reproductive genetic counselling and I understand that is the topic of your PhD.
Sarah Long:Yeah, so my PhD is about non-invasive prenatal testing using platforms like holoxone sequencing to look for hundreds or thousands of genetic conditions in pregnancy, and that basically started when I started, when I was working in prenatal for the public hospital, and it was. Nipt was quite new, but it already evolved into doing things like microarrays and with that became a lot of controversies with positive predictive values and problems like that, because the PPVs were much lower for micro deletions and micro duplications and it started getting me thinking well, what happens when we combine it with other technologies and we can start testing for single gene disorders on a population level? What will happen then? And that's really where the um impetuous for doing a phd came from. It was a hypothetical uh-huh okay.
Matt Burgess:So for the non-genetic counselors listening to this podcast, I think I'm going to break down what you've just said. So I think maybe just start with okay, we talk about NIPT. I know at work sometimes I refer to it as NIPS or NIPS. Could you sort of just basically explain what this test is and how it's used?
Sarah Long:Absolutely so. It's a screening test. It's not a diagnostic test, which is really important to say and basically it takes cell-free fetal DNA, so DNA from the fetus that's floating around in the mother's blood, and it compares the maternal, the mother's DNA to the fetus's DNA to see whether there's any extra or missing bits so you can tell whether a baby might have triathlete 21 or Down syndrome. But you can also look for smaller parts of the chromosomes that might be missing or duplicated that can cause problems like Angelman syndrome or Carter-Willie syndrome, and you can do that across the whole genome now. So you can look for duplications and deletions across the whole genome. And in the last couple of years a big company has actually released a test that now looks for single gene disorders. The last time I checked there were 25 single gene disorders on this list that you could be screened for in pregnancy. So my hypothetical of having a test that could screen hundreds or thousands of genetic disorders really isn't that far away commercially.
Matt Burgess:Yeah, yeah, I know, I just spent a few years in the United States and I worked for a company over there that had a single gene NIPT test. So, yeah, very interesting. And I guess the other thing that I sort of just maybe we can define before we move on is positive predictive value or PPV. Yeah, what does that mean to a layperson?
Sarah Long:Yeah. So one of the big problems when NIPT first came out was it was advertised as 99% sensitivity and a lot of people doctors and patients took this to mean 99 accurate. Now a screening test. You don't use accuracy because it's not a diagnostic test. It's not saying if we say this person has down syndrome, 99 the time it's correct. What it's saying is that if there's a population of 100 people and they all have a screening test positive for Down syndrome, then 99% will be detected and one won't be detected.
Sarah Long:And the other side of that is specificity. Sorry for stumbling over that. And that's saying if we have 100 people who have a baby with Down syndrome, how many will be picked up? And we know that specificity is really good for NIPT. It's over 90% but it's not 100%. So it doesn't detect all pregnancies with trisomy 21. And I'm using trisomy 21 or Down syndrome as the example because that's the condition that has the highest sensitivity and specificity. When you start looking at micro duplications and dilations, it drops quite low and when you look at things like the sex chromosomes, it drops quite low again.
Matt Burgess:Um, some of the sex chromosomes has have a positive predictive value of the 50 kind of thing yeah, when I'm speaking to women and couples about this test or this screen, um, like I, I think of myself and I think you know I am a genetic counselor and part of our role is to to give people information and to explain it, and obviously we know much more about the test and part of our role is to just give as much information as the patients need in order to make their decision.
Matt Burgess:But, on the other hand, I kind of think sometimes, like when it comes to my own sort of personal medical information, like I don't know, like ignorance is bliss or you know, like I am very happy for the doctors and medical staff to be quite paternalistic and say, like Matt, do this or don't worry about this. And I really struggle because I think it's completely understandable when someone comes in and says how accurate is this test, and we kind of know what they mean. But it is actually quite difficult to kind of really break down Like you don't want to give somebody a statistics lesson and you know, I don't know, is that something that you kind of have got a better with? That sort of explaining? Like if I said, oh, how accurate is this test in a clinic, how do you sort of explain that?
Sarah Long:this test in a clinic? What? How do you sort of explain that? So the interesting thing is I don't work clinically in prenatal. I work clinically two days a week in familiar cancer and I work three days a week in a research position doing prenatal.
Sarah Long:And even if I did work clinically prenatal at the public hospital I work at, we don't see people before their NIPT tests. We only see them after they've had a diagnosis confirmed on amnio and then we do the counselling because of the sheer volume of NIPT that's being done in the general population. So I think that there is a lot of misinformation about how NIPT works, because I don't think that a lot of general doctors understand the difference in between a screening and a diagnostic test, although I think it has gotten better. When NIPT first came in in Western Australia we had patients who were ending their pregnancy based on the NIPT results before having confirmation with amnio, and we quickly communicated to doctors why that was inappropriate. So it's not something I have to do on a clinical basis very often, um, it's something that I do as part of my phd and it's something that I've been doing. Um, when I talk to patients in my research role, they often bring up their niptT results and ask questions about them.
Matt Burgess:Yeah, I think that's difficult in research when you're sort of interviewing people and then they have like a clinical question.
Matt Burgess:It's like, oh, you know, there's a bit of a fine line there with sort of being able to answer the question.
Matt Burgess:But I think you bring up a really interesting point about pre-test counselling and post-test counselling and post-test counselling. And you know, in genetic counselling it wasn't that long ago and I mean, there's probably still people out there that do that, that do this, where they spend an hour with a patient talking about the pros and cons of testing one particular gene, and it's kind of like those days are gone now. I think you know like, um, it wasn't that long ago that we were sort of the gatekeepers of genetic testing and like all genetic testing went through genetics and, um, now it's kind of like every specialty is ordering genetic testing and a lot of people aren't getting that pre-test counselling. And is there a way that you and like the genetic counsellors you work with can see facilitating that? Like, you know, not everyone can sit down, but, you know, can we record a video? Or, you know, can we get people to have a fact sheet? Or, you know, can we empower the general practitioners to sort of give more information before the test yeah, well, there's been a few things.
Sarah Long:So we've had mainstreaming come in for ovarian cancer testing in western australia. Um, it's coming for cancer testing, but the doctors and the surgeons, the oncologists, have been a bit more reluctant, because I think at the start they were quite keen. They thought, oh, instead of waiting for a few months to get a test result, I can just order it and be done. And then the first lot of booths came back and they all panicked and went why are we doing this? We don't know what this means, send it to genetics. And then, of course, they start dealing with the ethical issues involved and I think they've really backed off and they're sending way more to us because it was, I think they realised that it's a lot more complex and they don't have the time to do a lot of the counselling. But what we've done is done a lot of education, done a lot of talking at multidisciplinary meetings about how to facilitate testing and what are some of the issues involved. We also developed a consent sheet and the consent ticks off a lot of the issues that should be discussed in pre-test counselling. So if they go through the consent properly, they should have had the basic issues covered, if that makes sense. So, yeah, that's really helped.
Sarah Long:I think in some cases the pre-test counselling isn't as important as in others. So what I mean by this is, with a lot of the ovarian cancer patients, they're usually a lot older, so we're talking women in their 80s or 90s. For a lot of them, they've already had their children. They might not have a lot longer to live, so it's not about other cancers that might pop up in future. A lot of these are quite late stage cancer patients and the main reason they're having the testing is for treatment purposes, so they can take PARP inhibitors for their ovarian cancer if they're BRCA1 or BRCA2 positive. So I think that's really different for when you're seeing a 40-year-old for breast cancer who's got two young children and brothers and sisters and they're worried about the impact on their family and what it's going to mean for them. So I think it's the context as well as to whether mainstreaming is appropriate or not in those circumstances.
Matt Burgess:Yeah, and I think that makes sense. But what I really like or what I take away from that is the value of genetic counsellors. On one hand, I think even working in like a big public hospital, you know, with a large clinical genetics department, there is still a lot of workers that do not know what a genetic counsellor is or what we do. Or you know sort of what our training is, genetic counsellor is or what we do, or you know sort of what our training is. But when the doctors out there kind of requested that they be able to order their own genetic tests and then we helped facilitate that through like this mainstreaming sort of concept, and then all of a sudden they were like, oh, actually this is a bit harder than what I was expecting. It's sort of I don't know if heartwarming is the right word, but you know like it's encouraging to hear that they value genetic counselling and they can see that we can actually help in the process and the management of their patients.
Sarah Long:Absolutely and I think that's really come out. They do value us. We've had we started attending MOLS years ago and they've started up a few more meetings around Perth. I'm involved in the breast cancer ones and the latest time they started one up they specifically requested a genetic counsellor join them. So they are recognising our value in multidisciplinary management of patients with cancer. We've also got renal and cardiac genetic counsellor specialties working at the public hospital now and they work very closely with cardiologists and renal specialists. So we are expanding into other areas where these specialists are saying we need genetics input, we need a genetic counsellor on board.
Matt Burgess:Yeah, and I guess you know when you order a genetic test, I think you know the layperson would be familiar with the test either coming back positive or negative. But you mentioned the word VOOS and just to sort of explain that that means a variant of unknown significance. So sometimes when we do genetic testing the lab may find a change in the gene and we literally do not know what it means, or there's not enough evidence to say that that is actually disease causing or not. And yeah, it's been my experience as well that some of the doctors you know, as soon as a variant of unknown significance comes up, they're like oh, I don't know how to manage this.
Sarah Long:Like, oh, let's sort of handball it back to genetics absolutely, and I think voces or variants of unknown significance are definitely the bane of genetic counselors existence. Um, it's hard to communicate to patients. It's hard to communicate to patients family, who might just hear there's something found in a gene and then they contact us wanting testing. And even doctors sometimes make clinical decisions based on VUSAs and we've had to go back and tell them that's really inappropriate. This is not a clinically actionable gene change. But yeah, there's definitely been antidotal cases of people having prophylactic surgery because of VUSA and stuff like that.
Matt Burgess:Okay. So I'm a bit surprised that we went into cancer. I didn't think that we would be talking about that today.
Sarah Long:Yeah, so my PhD is actually mixed methods. It's qualitative and quantitative. We started out by deciding to get some basic ground-level knowledge about women and genetic conditions, and lots of conditions, whether people with children with genetic conditions would have wanted to know. So we did. I did, uh interviews with 30 women 10 who self-identified as healthy with no children, 10 who self-identified as healthy with healthy children and 10 who identified as healthy with children with a de novo genetic condition that wouldn't have been picked up in pregnancy using the technologies available at the time of the interview.
Matt Burgess:TractGene has designed a genetics electronic health record. Here's what it features Pedigrees, demographic data, genetics information, risk tools and sophisticated reporting, all within a clinician-designed workflow. It integrates with other clinical genetics software databases and hospital information systems to maintain accurate patient records. Tractgene has an experienced team who have been working in the clinical genetics industry for over 15 years. You can request a demo for free. Go to trapgenecom. That's T-R-A-K-G-E-N-E dot com. But going back to sort of reproductive and sort of what your research has been in of reproductive and sort of what your research has been in, you know I kind of consider myself a qualitative researcher and sort of one of my favourite approaches is using a phenomenological approach. I always have to be careful saying that big word and I think that that's sort of your approach as well. Can you tell us a little bit more about sort of the different studies that you've done using qualitative research?
Sarah Long:Neither parents are carried. It happens in the egg or the sperm before conception and then when they join up together, the child has a genetic condition that neither parent's the carrier's on. So even if the parents had undergone carrier screening before conception, this is not something they could have prevented in any way. And what did you find? We found a lot of things. We published quite a few papers on the qualitative data. There was actually quite good genetic literacy among all the cohorts, although the cohorts with women with genetic conditions had a lot more knowledge about genetic conditions in general because of exposure to support groups. And even the women without children, who tended to be a bit younger, had quite a lot of knowledge about genetic conditions, and some of it was from the media. So one person had seen grey's anatomy and said oh you know, I saw this genetic condition, I'm definitely going to get tested for it. And another person had seen something in the newspaper about a couple with a child with crab a disease and she was adamant she was going to get tested for crab a disease because it was a really heartbreaking story. So that was quite interesting to hear the exposure people had to different genetic conditions.
Sarah Long:It was really interesting that not a lot of people knew what they had been screened for if they did have children. So a lot of them said, oh, I had screening for Down syndrome, but they weren't really aware that there were other things screened for and they weren't aware that you could get other things screened for, and they weren't aware that you could get other things screened for, especially before pregnancy as well. Um, probably the most interesting paper is would I have wanted to know, which is about the experiences of the mums that had children with de novo genetic conditions, and I asked them would you have wanted to know about your child's genetic condition while you were pregnant? And about half of them said yes, I would have wanted to know, because this is a really hard life and I probably would have ended the pregnancy. So that was quite brutally honest. And half of them said no, I wouldn't have wanted to know, because I probably would have ended the pregnancy and they've brought so much joy and richness into my life. I couldn't imagine my life without them here.
Sarah Long:So it was a really interesting perspective and one that raises the ethical issue of if we do start screening for more conditions. Are we stigmatising people with disability and are we doing them a disservice by enabling people to end these pregnancies. That might be individuals who lead really rich, fulfilling, joyful lives despite the fact they have genetic conditions. And on the flip side to that is, I believe every child should be a wanted child, no matter what the circumstances. And if a parent feels they can't parent a child with a severe genetic condition, then who am I to say you shouldn't. You know, this child might have a great life. You should parent this child. So it's. It's one of those conundrums that has come up in my PhD that I've I've written about and I try to acknowledge in all my discussions, but I don't think there's an easy answer question, but I don't think there's an easy answer.
Matt Burgess:Wow, there's so much there. Yes, I, and one of the things that we sort of touched on before was that you know these newer sort of versions of the non-invasive prenatal screen. Um is looking at conditions like micro deletions or sort of uh rarer changes that can occur in our genome and that the positive predictive value isn't the highest for this um. So I guess practically what that means is um women could have these tests. It comes back increased risk and then um, it's actually not the case in the child. You test the child. Um test the fetus and the. They do not have the condition that um was brought up on on the test. What did women? Did women sort of talk to you about their feelings, about, you know, conditions being included, whether sensitivity wasn't that high?
Sarah Long:So at the time that I did the test, none of the women sorry the interviews none of the women were pregnant and had NIPT. Most of the women had first trimester screening because it was still when NIPT was quite new. So we asked about what they thought about NIPT. In the quantitative study, which was the larger online study that we generated the questions from themes identified in the qualitative study, but I didn't ask directly about what they felt about NIPT. Having said that, a few years ago a friend reached out and said I've just had this Harmony book. I don't know whether I can reached out and said I've just had this harmony I don't know whether I can say the name, sorry, I just had this NIPT test and it's come back saying the baby has 22q11 syndrome. What do I do Now?
Sarah Long:Every genetic counsellor knows that you don't counsel your friends. So I immediately found the website and hooked her up with the genetic counsellor. But I did tell her look, look, the positive predictive value is low. So this is something that it's. It's not a. You know it's. It's not a hundred percent, it's not a diagnosis. Talk to the genetic counsellor and then you can arrange an amniocentesis if you want. And um, she talked to the genetic counsellor associated with the company and she had a really good experience with them, which was great. I think they told her the positive predictive value was around 40%, so that really put her mind at ease. And then I actually went with her to the amniocentesis because her partner had to look after their other children look after their other children. So I was there to hold her hand and watch my 800th amnio go through.
Sarah Long:It's a bit different when it's your friend on the table, though I was much more nervous than I usually am and the baby looked fine. An ultrasound, no cardiac defect or anything, and the baby came back completely fine and he's actually my godson now. So that, yeah, yeah. So so that was lovely. Um, it was a good. It was a good outcome, but it was horrific for my friend who already had two kids and you know a 22q11 is so variable and you can be absolutely fine or you can have quite a lot of delay and you just don't get an idea of what would this look like for me and my family. So while I haven't had to clinically counsel about it, I have a quite personal experience with it yeah, it is very difficult.
Matt Burgess:I feel like sometimes we can sort of give the diagnosis and the people you know, people say what does that mean? And that's a really hard question to answer zone around the moment where it just seems amazing that they're going back to a law, um from the 1800s, about termination and, um, you know, having lived in america and kind of seeing um the medical system over there and how complicated it is and how expensive it is, and then coming back to australia, um, I'm just wondering about termination and how easy is it for women to access termination, relatively speaking, in Australia? Is that something that you can sort of comment on or do you have sort of thoughts about that?
Sarah Long:Yeah, yeah. So in a paper I'm writing up for my research. I don't remember off the top of my head I'm writing up for my research. I don't remember off the top of my head, but basically a lot of the states require two doctors after a certain gestation to sign off on it. Wa had some of the most restrictive laws where after 20 weeks you'd have to go to a ministerial panel of experts who would say this condition is severe enough so that allow late termination. Thankfully our abortion laws have changed in WA. You can now go to 24 weeks and have late termination. Thankfully our abortion laws have changed in wa. You can now go to 24 weeks and have a termination.
Sarah Long:And the reason that this is so important is because most fetal anomalies get picked up at the 20-week scan. So if the limit to abortion is 20 weeks in in a state, then you've got very little or almost no time to make a decision before that decision is out of your hands and um and and things like the brain don't develop until the 19th or 20th week anyway. So you know a lot of, a lot of things can't be picked up earlier. People say why wasn't it detected earlier? It's like it physically cannot be detected earlier.
Sarah Long:In my research role I interview women who have fetal anomalies and who want whole exome sequencing and we do trios and some of these are picked up very late in pregnancy and it's pretty heartbreaking for everyone involved. But depending on where they are, they can still access termination, depending on the doctors and the rules in their state. I don't think anyone's been denied termination in their state. But sometimes the methods of termination vary and, for instance, if someone wants a surgical termination after 20 weeks, there are many states that won't do surgical and will just do induction of labour. So you might have to fly to another state if your preferred method is surgical um termination. So I I really believe women should have a choice about this, but it's still not, as there's still not as much choice as we could have okay, and so you mentioned whole exome sequencing and in like a prenatal setting and using a trio methodology.
Matt Burgess:So just to explain that it's looking at the baby, but we're also doing so in the context of mum and dad. So, being a trio, it's mum, dad and baby.
Sarah Long:Yeah. So what we're looking at is does baby have any genetic changes that would explain the phenotype, the clinical picture we see on ultrasound? Are these inherited from the mum or dad? Are mum and dad carriers? Is it inherited from one parent? Is dad a carrier or mum's a carrier? And this is a dominant condition, meaning mum or dad might be affected and it might have health implications for them. Or is this de novo? Like we mentioned before, is this a new thing that happened in the baby? And all this information not only helps for future pregnancies and for the health of the parents, it also helps us classify variants. So if we find a VOOS a variant of uncertain significance in the baby, but it's in a gene that matches up with their clinical picture, and we see that neither parents have this VOOS, it gives us a bit more evidence that that gene change might be the thing that's causing the problems in the fetus.
Matt Burgess:Wow, and how quickly can you do this test in a prenatal setting?
Sarah Long:It varies between states. Some labs can turn it out in about 10 days, others take about three to four weeks.
Matt Burgess:Um, it's really variable, but um, I think our average for the research study I'm on is 17 days wow, okay, so as interesting as all of the reproductive issues and themes have been to discuss, a little birdie told me that you are sometimes referred to as the queen of MTHFR and this is a little topic that I wanted to have a little chat to you about.
Matt Burgess:I know that you published a paper God, it's nearly like 10 years ago now, I think um seven or eight years yeah, um, about this, this gene. So the gene is called mthfr and um, I feel like as a genetic counselor, we get a lot of referrals, that, and it's just kind of as, most of the time, completely inappropriate and it's not relevant to somebody's health, but a lot of GPs and naturopaths seem to be ordering this test. I know I had, um. You know, a friend of the family had a family member that is really struggling with like a severe case of clinical depression and one of the things that was said was oh, and you know they've got a mutation in MTHFR. It's like, oh, I don't think that's relevant and it's not sort of yeah.
Matt Burgess:I just don't think it's just not relevant. But can you tell me a little bit more about the motivation for writing this paper and sort of you know why this paper has been so popular for you?
Sarah Long:This paper was done after I was working in prenatal and general at the time and we were getting bombarded with MTHFR referrals for everything from miscarriage to depression to colorectal cancer, and I was getting so frustrated and it really came to a head one day when I had a duty call and this male patient rang in and he was very jovial, he was American. He said, oh, I need genetic testing. My sister's got a gene change. And I said, okay, no worries, we should be able to help you. Can you tell me a bit more? And he said, oh, she's had three miscarriages and she's got an MTHFR mutation. And I said well, I've got some good news for you, and that is these polymorphisms. It probably won't be a pathogenic mutation, it's probably a polymorphism and they don't cause medical issues, so it's probably not the cause of their miscarriages. And I explained to him why that was. They only affect enzyme level very slightly. He got really irate with me. He got absolutely furious we wouldn't test him and I tried everything. I said to him what would you do differently if you found out you had this gene change? And he said I'd eat more folate and I sort of was like okay, and I tried explaining it to him and then he got quite aggressive and started yelling at me and saying you're not a doctor, what do you know? You're not a doctor. And that just got me so mad not at the patient but at the misinformation that I was like I'm going to write a paper. I'm going to literature review this. I'm going to write a paper and the next time somebody comes to me I'm going to email them my paper.
Sarah Long:And in the years since publishing that paper I've had so many people reach out to me. I've had journalists reach out. I've had lots of patients reach out. I had a patient who contacts me every few years from Victoria and she had really bad clinical depression and she was told it was an MTHFR mutation from a naturopath and she still didn't feel better after taking the pricey vitamins they sold her and she felt like it was a sort of a moral failing of her own that she wasn't better, that she was doing everything. And when she read the paper she reached out and said it was a huge validation for her and she feels ripped off by her healthcare provider. But she just stayed in contact with me and occasionally would message how she was going and I really felt proud that she'd gotten some information and she could see that it wasn't anything she was doing wrong.
Sarah Long:It was just not good healthcare information. Um, there's been some really worrying associations with mthfr. There's a very popular website run by an american who claims it's linked to bedwetting, claims it's linked to autism. Um, there's one doctor in america who's claimed it makes people transgender, which is incredibly concerning. Um, because this particular doctor is prescribing certain vitamins to make people not be transgender, which is really morally, ethically reprehensible. I just can't stand the idea of using junk science to hurt people in that way. So, yeah, the paper was basically written because I was frustrated with the lack of information and I wanted to get to the bottom of it myself. So I did a lit review and I found loads of papers with associations between different medical conditions and these polymorphisms. But the science was really bad.
Matt Burgess:When you actually looked at how the studies were done, they they weren't relevant wow, okay, and I think that that is so important because you know that case that you had with that lady. It sounds like her medical people sort of really failed her and she was really upset with that and, um, I don't know. I think it just highlights the fact that everybody can order a genetic test, or anybody can order a genetic test. But, you know, is it the right test for the right person, and are we having people sort of explain it that actually understand what it means?
Sarah Long:I think the biggest problem is that it's on. It's on medicare, but if you look at the medicare item number, you can only order mthfr, if I, if my, if I remember correctly, it's something to do with clotting disorders, so it should. Or for homocysteine or something, so it shouldn't actually be on medic like the. The reason naturopaths and doctors order with clotting disorders or for homocysteine or something, so it shouldn't actually be on Medicare. The reason naturopaths and doctors order this is not anything to do with clotting disorders, it's all these other reasons, so it shouldn't actually. It's not an appropriate test to be covered by Medicare and, yeah, I really think for polymorphisms especially, we shouldn't be able to have that test covered by the government.
Matt Burgess:Well, excellent. On that note, I think I'll say thank you very much for your time today. It's been really interesting sort of going through these issues with you, and I wish you all the best with finishing your PhD.
Sarah Long:Thanks. We've just got a paper accepted with minor revisions, which is the last chapter in my thesis, so hopefully by the end of this year I'll have that doctor in front of my name and we'll be done and dusted.
Matt Burgess:Excellent congratulations and I look forward to seeing Dr Sarah next time I see you in person.
Sarah Long:Thanks, matt.
Matt Burgess:Okay, take, take care, bye.
