Hello, and welcome back to so you gotta lifesite degree. We are your hosts, Lisa and for Rita to life sigh undergrad students trying to navigate our future careers. This is episode eight and we're talking to Jacqueline Leonard about genetic counselling. How are you doing, sir? I'm doing good. I'm super excited and done freaking out, but still very happy about the fact that I most likely have landed a thesis position. Yay. So exciting. Yeah, thank you. Thank you. I feel scared about even saying that this chicken is fully hatched. Because I'm like, you know, they could drop me at any moment. I could accidentally send an email. That's just all my Dragon Dictation transcripts. I don't even know what are you dictating on dragon that you can't? I don't know. But I don't know. I'm just like, I'm not saying these are logical concerns. But yeah, so I should be accepted for a thesis position in the bramson Lab, looking at how this synthetic or kind of modified T cell receptor interacts with cancer cells. So for the people who don't know T cell therapy is a up and coming way for fighting cancer by essentially taking your T cells, which are kind of immune cells from your body. Kind of messing around with them a bit outside of your body and then putting them back in. And it's worked wonders, but they're trying to improve it. Yeah, that's super exciting. Yeah. So that should be you know, if all goes as planned, that should be starting in about a year. So the coming September for eight months. That's a big end of your project. What about you? What's up? I'm not too much. My hectic weekend has come to an end, which is nice. And I'm almost out of my four fellow probationary periods. That's pretty close. I thought you already out. I mean, I am I just haven't done the probationary reviews. So I see. Yeah, no, I haven't got wait. You never do the reviews? Um, I don't think they'll let you get away with that. Yeah. But basically, my boss was emailed me and was like, I can, you know, assure you, it's gonna be a positive review. So basically telling me Yes, we passed. Yeah. So does that mean that they can't drop you? Is this like the floor fellow equivalent of getting tenure? It is the equivalent, but it's not exactly getting tenure. Because, you know, it just means that the things you have to do to get fired are even more. That's basically tenure. Cool, cool. Glad to hear you've been accepted into the inner fold. Thanks to you,
I can relax a little bit.
So I'm super excited to talk to Jacqueline because upon reaching out to her, we didn't even realise exactly what her specialty was. We just knew she was a genetic counsellor. And then through emailing her, we found out all this extra exciting information. So I don't know about you, but I'm really eager for this interview. Yeah, her work seems super cool, ready to talk to her. Jacqueline is currently a genetic counsellor at the Children's Hospital of Philadelphia. She completed her undergrad degree in molecular biology and genetics at McMaster University, followed by a research Master's in pathology and Molecular Medicine at Queen's University. She then completed a clinical master's degree in genetic counselling at Brandeis University in Massachusetts. She began working at the Children's Hospital of Philadelphia in 2017. In addition to paediatric genetic care, she has added interest and specialty in differences of sex development, and intersex genetic etiologies. Thank you so much for joining us today. Jackie. Very happy to be here. So the first question that we want to ask you because not necessarily everyone knows is what do genetic counsellors do?
So genetic counsellors really do clinical work, but also have really started to move into labs and industry. From a clinical perspective. We really are kind of a bridge I think, between sort of the complex genetic literature and the geneticists, and patient and families. So we work to help families understand the process of genetic testing what things mean types of results, help them understand their genetic risk factors by ticking things like family history and review of systems helping them understand results when they come back, as well as doing psychosocial counselling making sure families understanding the process and and how they're feeling about it from the more industry side, working in labs, helping write test reports, things like that.
It has been girl sounds very interesting. Could you possibly give us some examples of cases that you've worked on?
Sure. Um, so the types of cases I can see really depend on what the referral is. So I'm very lucky to actually work in a division where our goal was to provide comprehensive genetic care for divisions outside The sort of typical genetics from my division really helps like is if immunology wants to centre drug testing rheumatology, gi nephrology. The classic sort of what we think of as genetic referrals can be individual with history of developmental delay, autism, intellectual disability, or multiple congenital anomalies. We do see many of those patients. But those can often go to another genetics division where I work, but I see individuals where they're a 15 year old female that has had significant respiratory infections throughout her life and abnormalities on her blood work. Or maybe her immunologist is contract signed for a new immunodeficiency, so we would help send a primary immunodeficiency panel. An example of a case I just saw yesterday was a three year old male with a history of microcephaly. So really large head size, developmental delay, complex ketotic, hypoglycemia, and heart difference that have had prior normal genetic testing, where we are sending a task called an exome sequence, which allows us to examine all 20,000 of somebodies genes are being very personalised. So I would tell the lab he'll make sure to check all genes known to be associated macrocephaly, and etc, for all their different features. And we're really sort of maximising a chance by finding an answer with a single test. With my additional DSD, difference of sex development and intersex background. We see a lot of kiddos born with genital ambiguity, where they're possibly in the process of trying to determine best gender of rearing. So often in the case of ambiguous genitalia, there can be an x x carrier type of maybe genitalium, more towards the male, or the gonads more towards testes or ovaries, there's something called mini puberty of infancy where at two months of age, you would get a kind of a spike of hormones that would be consistent with actual puberty. So is there more towards oestrogen or testosterone? And we're get involved as part of what's the underlying genetic diagnosis? Could that help us determine and continue to make our recommendation for gender of rearing? And very often, actually, in those cases, were able to identify underlying aetiology and diagnosis for the family. Be sure we're not missing anything else with those. So I kind of see a fairly large breadth of patients, which I feel quite likely lucky to
do. That is super cool. I don't even know where to begin. I have so many questions stemming off of that. But I guess to go back a bit to the basics of what you do, you mentioned that, you know, on the clinical side, or on the family side, rather, so if I'm mixing that up, you are kind of the bridge between the medical professionals and you know, be able to talk one on one with families and help them through difficult situations. And so can you just walk us through what that looks like? Is this like a counselling situation where you see them once a month or once a week.
So most of our appointments do tend to be sort of one off to chew off. So see the family initially for our genetic counselling and a genetic evaluation, and then potentially, for result, return and follow up. We certainly work with social workers, and certainly referred patients to psychologists if we feel like they need more psychosocial support. But generally the we just tend to be kind of two offs. In terms of a standard patient visit, I'll be the one that spends the majority of the time with the family. And normally visits are kind of patient, being a child and mom and dad typically can just the mom could just be dad had generally need consent from from a parent, which is why it's usually not something else, bringing in the child. But we take a comprehensive history, go through pregnancy history developmental review of system, so I asked like any concerns, revision, any concerns for hearing, ever been told to you to get his heart checked type thing, and then take a comprehensive family history. Sometimes the patient is in for multiple congenital anomalies with talking about the exome test. And I noticed like a family history of early onset cancer, maybe concern for early onset heart differences. So family histories can really be a larger risk assessment picture, where sometimes I have to be like, so I know, this isn't necessarily what you were expecting on coming in today. But I noticed this history, has this person ever considered further genetic testing for that, like family if you have additional and sometimes we refer families to other places for those and then really counselling through the test what it is exactly? What are the exact types of results? What does the positive mean? What does the negative mean? Very often, we actually get uncertain results. I talk a lot to families about the fact that just because a genetic change is found doesn't actually mean it's doing anything. In the genetics world, we're really kind of moving on from using the term mutation and that's because variants can be a what we call uncertain significance. So it's a change, maybe it's doing something, but we can't say that for certain, because oftentimes we've not seen it before. So we're often moving on to the term like pathogenic variant in the case of what we would refer to as a mutation. So it's kind of talking through all of that. And often the sort of psychosocial counselling I can do in a session is to the perspective, like what would it mean to identify a diagnosis? Would that something be helpful to you, as a family, all genetic testing is always voluntary. So I was like to emphasise the fact that like, if this is helpful, we can definitely do it, oftentimes, you already have the insurance approval, which is something totally separate in the US from healthcare. But um, it's important to me in my counselling sessions to know like being sure that the family wants to go ahead, and it's something that's helpful to them, rather than them just saying yes, because they're here for that visit in that test. So oftentimes, psychosocial counselling really comes in on the back end with results as well, because diagnoses can be extremely overwhelming times for anybody. So being sure family is sort of aware of the results and what it means but b kind of meeting them where they are. At the same time, often this can involve kind of a couple different phone calls over time, because I always sort of asked family, how much do you want me to talk about this, I can talk about it a lot. I can talk about just sort of to a brief degree, we can touch base on it again in a couple days. So it can very much depend on on it's kind of me and the family where they are, in terms of diagnoses conversation as well.
Yeah, that sounds like a super interesting role seems like a mix between interpreting results, kind of providing them guidance to further action, but also then providing that, you know, emotional support, which seems super important.
I like that a lot about my job. It's also I think we're kind of a bridge between like, I have to take complex papers in the literature about diagnoses that'll sometimes we do offer papers to families, if it's something that's helpful, but I often find my job is in terms of result return. It's like I have to take these papers, and be able to talk to the family about it at a level that makes sense. And it's just kind of regurgitating complex medical information. So I very much like that, like in my sort of intellectual standpoint, I get to be reading a lot of papers interpreting things, I feel very lucky at CHOP that they have a high degree of like trust in their counsellors. So my clinicians and geneticists often do trust my sort of opinion about results, which I feel very lucky about. And interpreting that information for families is also a big part of what I do. It's cool that you, like still get to interact with the science so much. That's very interesting.
And you work specifically more on the paediatric genetic care from what I understand. Could you speak a little bit about the other kinds of divisions of genetic counsellors in hospitals or other settings?
Absolutely. So, in all honesty, genetic counselling, I think is a field that's growing a lot and growing into a lot of different areas. A lot of people can kind of take their interests and you don't just have to sort of exit out of a genetic counselling degree and go into clinical care. So across clinical care, we often consider the main three areas to be paediatrics, prenatal and cancer predisposition. So prenatal being offering testing for what they term advanced maternal age, which I don't necessarily agree is always the right term. But in vegetables who are pregnant, were over the age of 35 are added slightly increased risk for certain trisomies like Down syndrome. So often prenatal counsellors help families to understand screening tests about someone high risk or low risk, or see families when there's anomalies on ultrasound to counsel. Well, what could the differential be? Would they be interested in testing during a pregnancy cancer predisposition clinics, very much focused on like individuals, a family history of cancer or magenic perspective we do become concerned? Could there be an underlying genetic cause when there is a family history of cancer under the age of 50? So just yesterday, I had to counsel so like even though I work in paediatrics, sometimes I have to pull out these hats where I saw a family history of patients grandmother had a history of breast cancer at age of 45. So I put on my cancer had and was just like, so whenever we see someone with this history, we do become concerned how she had testing would you consider testing and that would be the whole sort of cancer cut clinicians job. It'd be looking at these family histories determining risk and sending testing based off the indication. So they mostly focused on colorectal cancer genes or kidney cancer genes or breast cancer, etc. But increasingly Genetic counsellors work more in in laboratories and industry. I work with a number of laboratory genetic counsellors that help to write reports and work on the kind of genetic testing lab side of things. I work with another laboratory check house that primarily is involved in research. So she helps run some large studies that are done in collaboration with some of the geneticists I work with. So she helps to write documentation and IR B's and sort of help manage that study. Across clinical realms. People specialise in cardiovascular care, adult genetics, psychiatric conditions, neuromuscular neurology, metabolic mitochondrial, many, many different clinic areas help employ genetic counsellors now, and increasingly, we're getting involved in many different areas, because I think the ultimate skill set we have sort of taking complex information, and helping families understand that and kind of converting that down I think can apply to a lot of different areas and more interesting recognising that.
Yeah, it almost seems like every area that you could have a doctor for you could in some sense, also have a genetic counsellor for definitely seems like a useful position. And you know, in hearing you talk about having to work with people who, you know, might have a predisposition predisposition for cancer, or are at an increased risk of having trisomies It seems like as a genetic counsellor, you inherently have to give a lot of bad news to patients or, you know, work with them through difficult times. And so I was wondering if there was no some kind of emotional toll to this, or, you know, how you manage this kind of motion emotionally challenging situation?
Yeah, that's a good question. I think you're dead absolutely pick up on that correctly, that we, we do often have to give a lot of bad news or what we would consider in paediatrics, I often feel like a result can mean different things to different people. So I often really try and avoid putting like my judgement on how family would feel unless, before they tell me since a diagnosis of significant intellectual disability and developmental delay, in a patient that's only presented maybe with a congenital diaphragmatic hernia, where that's when the diaphragm doesn't fully close, it's a little bit open and abdomen, abdomen organs can actually make its way up. And I've had situations I've disclosed results where it's devastating to the family. And that's that is hard. Those are often the kind of days where I feel lucky to be able to decompress with my fellow counsellors and colleagues, along with friends and family. burnout is definitely very real in clinical genetic counselling. And often many, many groups see sort of a move of like somebody works in clinic for like 510 years and moves to industry. But for me, it's kind of how do I manage that that burnout, but at the same time, that same diagnosis that was devastating to that, like, four month old child's parents can actually be incredibly relieving to a 16 year olds, parents who have been looking for an answer for for all of that time. So I've had families where I feel very lucky to kind of go through them, they've given me a hug. At the end of our results discussion that's just like we've been, we've been wanting an answer. So that's why I'm like I always try and sort of avoid putting any emotions until kind of family kind of give gives me some indication, which has been made harder and COVID. When it's a lot more vital telephone. I admit, I think this is very much where different people choose different types of clinic areas. For me, I really like to paediatrics because like the variable indications and often because it's more of a like you're giving an answer for something you already know is present. versus a couple times I've had to give diagnoses of what part of the the big test the exome test I do does revolve around additional predisposition genes we can look for. So I've had to give diagnoses surrounding like cancer predispositions cardiomyopathies everything as before unexpectedly so I can speak maybe a little bit to how those those cancers might might feel but not completely but like that, that's hard when you're they're not necessarily expecting that and all of a sudden you're telling them that there's this increased risk and that's hard for some families to hear and I think like those all depending on kind of your area how how individuals best coat but yeah, it's it's certainly part of the job. And I think managing burnout with that is something that I think every counsellor has to go through. But personally, I think it's it's worth it for I think, are we still helping families be able to go through this process and being with them through it?
Yeah. I mean, I can relate to that. I mean, Me Myself, I have this kind of confusing, like chronic pain condition and hands and just all these symptoms that don't And seem to make sense. I've had, you know, physiotherapists and doctors and rheumatologist not know what's going on. So, yeah, I definitely know what you mean when you're like some people are just relieved to know, because it's so much easier when you have a diagnosis.
And I like I can only imagine how frustrating that's been even for you as you've gotten to all these doctors. That's tough.
Yeah, for sure. You know, actually hearing you talk about this in the back of my mind, I'm like, oh, maybe I should do genetic counselling. And so that kind of led me to thinking what is the process of a patient actually ending up in your office as for genetic counselling?
So most of us are present in hospitals and kind of entrenched in systems, unfortunately, at least in the States. And I believe it's the same way back home jack counters can't practice necessarily wholly independently, we have to be involved with a physician. There's certainly groups working to be have more direct access to families and genetic characters. I think that's something really important that a family could just be like check houses in my area. But but that's certainly something more worked on but it really depends on the indication. So we would get many referrals from like paediatricians in terms of cancer, precision history. I know many of those come from, like, General like PCPs of like, Hey, I'm noticing this history. I think maybe you should see this, but they don't always necessarily need to come from a doctor. I know. Like Sunnybrook has a predisposition clinic where I think you can just kind of call and book an appointment based off your concern. There's a prenatal clinic I know at Mount Sinai back home that I think is fairly similar. Um, though, don't quote me on that. I briefly interned at sickkids where it was mostly we saw patients from referred from other divisions of the hospital as well as paediatricians. So I would say most of it is probably referral from someone's health care provider. But certainly I think more and more as the field becomes more well known people are searching us more out on on their own nice. So you mentioned, it's usually based on if people have like a predisposition? Could you explain a little bit of like how that might present? Oh, yeah. So we use the term predisposition, mostly to refer to somebody has a pathogenic change in a gene, causing them to have an increased risk for something in their life. And those can really be actually thrown through a number of different categories. A lot of them and why we really sort of call them predispositions and not necessarily syndromes is that most of them have what we call decreased penetrance. So just because you have a change in a gene doesn't mean you'll have symptoms. But there are certainly a risk. A lot of people come to the attention in like cancer predisposition clinics, or cardiovascular clinics, for instance, because of a family history, like I know, my mom had this early onset colorectal cancer, I'm concerned about my risk. I would like to get tested for genes related to that. Or I had a sister who had a really early onset heart attack in her 20s. And I'm concerned about could there have been a reason for that. And normally, in those cases, we'd always say, best person to test is the person affected, because we can always say a negative and a person with no symptoms, it's not necessarily as informative as possible, there's still something in the family that that other person just didn't, doesn't carry. But I'd say majority come to attention, either because like, I have this family history, or I have actually presented with this, this finding, and I'm concerned about what risk for the future I might have as well.
Yeah. And it makes sense to describe as a predisposition, because, you know, if you think about cancer, it's not like you mutate one gene, and you're gonna get breast cancer, you know, you need several, you know, mutations on top of one another. So I'm sure I'm sure a lot of genetic diseases are poly genic, meaning you know, they're affected by multiple genes.
Actually, your first instance is actually I would say most correct. So when we would consider a predisposition, it's most of them are dominant. So you only need a single pathogenic variant. But we think of like BRCA as some of the most common predispositions where all somebody needs to have a predisposition as a single pathogenic variant and BRCA one. And then we would consider the two hip hypothesis from there. So to actually develop disease, we think they really need to get a second variant somatically on the other wheel. And that's why it takes all that time. That's why we don't necessarily say somebody needs breast cancer screening with a buck or one change until they hit 25. But poly genic, I would say is less the realm of genetic counselling, because most of those are actually sort of really shaking in terms of their clinical relationship and their clinical care. Most of what we really deal with is is these monogenic, single gene, single hit in the case of dominant or to hit in the case of recessive diagnoses.
Yeah, I guess the science still needs to get there before you can really apply that in clinic.
I get asked so often Then can you look for diabetes, for Alzheimer's? And I have to say, no, not Unfortunately, not really, the science is shaky, we're still learning a lot about what it means. So those are still areas, I think about a lot of ongoing research.
Yeah, and definitely makes sense that this is a field that's growing because as we find out more about different diseases, there's more possibilities for application
very much. So I tell families all the time. And the fact that I send an exome test I mentioned, I say, I'd say most that's a test I send the most commonly, I would have to say like, we really only have a 30% chance of being able to identify an answer with a friend with a suspicion of a genetic cause. And that's really, because as much as we can get the data of all of our genes in that test, we really only know how to interpret, we say kind of like 60 507,000 of those genes and the changes within them. And there's about kind of 13,000 genes, or we still have to learn a lot. And we're certainly learning more every year, we kind of quote we run about 200 to 300 new new jeans a year.
That's really cool. And now backtracking a bit. And, you know, maybe getting off some of the tougher topics and asking you a bit about your educational path. We were wondering why you chose to study molecular biology and genetics at McMaster. And you know, at the time, as you know, an 18 something year old, what were you envisioning for your future career?
That's a great question. So to initially preface it, I didn't even hear about jack counselling until my fourth year of undergrad after I had already accepted a research Master's. So I think the field is like grown a lot that it's becoming more more well known. But I think definitely, and part of why I was really glad to be asked to come on and say I think telling people that this career is out there, I think is important. But in terms of when I entered, I always really knew I loved biology and I loved genetics. So I was super happy when I like got into that like molecular biology and genetics programme. At the time, I thought I wanted to do research, I always knew I didn't want to be a doctor. But I knew I wanted to try and do like I thought I wanted to try and do something that allowed me to find out more for families and ideally be able to like, find something that helps somebody in the future
feel like we're interviewing Lisa in the future.
Word describing
literally me Yeah, I love bio in high school. I wanted to do research still kind of do but same programme and everything too. So yeah, yeah. Anyways, you were talking about how you wanted to help families in several more thing.
Yeah. So part of why I really liked the molecular biology and genetics programme instead of just the general biology tract is, I don't know if it's still the case, but it mandated the thesis. Yeah. And it mandated that like third year class, which were like the 30 of you doing, like lab work twice a week. Oh. So there used to be that. So for me, I liked it because it would give me initial some research skills that I can translate into a thesis and I knew I really wants to do that thesis i going from from there, I always sort of was like, Yes, I enjoyed my thesis. I enjoyed those research classes, I want to continue on to do something and my research masters did focus on the genes related to like Haemophilia. So oral disease, oral disease, yeah, so I was doing kind of not necessarily genetics work, but sort of the molecular work to sort of better characterise how these things act under like stress in
the bloodstream. I
thought, like, Oh, we know that, like how can we sort of use this in for information, the future. And then I admit that while I did enjoy research, it is a tough path. And for some who are great at it, I applaud them, and I admire them deeply. But for me, it was somewhat isolationist. And I've been I grew frustrated with the fact that you could do an experiment many times and fail often. And that was just tough for me personally. And I kind of grouped the fact that I wanted to work with people more. So I sort of remembered back to the fact that I had heard about genetic counselling. I reached out to the friends I had heard it from who by then was in a genetic counselling programme in New York, and she sort of helped me talk through things I was able to shadow a genetic counsellor in Kingston. And sort of just like, I think this combines a lot of what I want to do what's not taking me away from the science that I love, and still have to sort of be able to use my brain in that way. And I feel very lucky now that like I My name is on papers in terms of characterising new disease genes. And I'm currently sort of writing a new one up now that like you can use that like clinical work and finding out these genetic information and then actually, Jude do at least clean up some clinical work on that and still get published and I feel very lucky, I'm still able to, like contribute to the literature in that way, even though I wasn't necessarily like, it's a different way to kind of go about it. And I get to interact with patients and I get to interact with people. And I do feel very lucky that I found genetic counselling as a career. Hmm, that sounds really cool. You mentioned that you, you got to shadow a genetic counsellor for a little bit. And that kind of informed your future career decisions.
Can you just speak a little bit about that experience?
Sure.
It was really only like a day. It was unfortunately, all I could get offered. But it's I got to shadow a couple sessions, I believe she was a cancer counsellor. And I always remember her telling me like, there's a lot of paperwork in this job. Like, if you hate that this is necessarily for you. But I, I still don't mind it. But I still it was a result return for something that I one of the cases I got to see. And I just was really entranced by how the counsellor helped the family through and was explaining things. And they're certainly formative, and convinced me that that that was definitely something I wish to go forward with through nose.
And the other question is kind of what does the Master's in genetic counselling programme look like? And what are the qualifications to become a genetic counsellor?
So I'm in terms of programmes, there are certainly a number in Canada, but to my last check, I think there's five. And they don't necessarily except a lot of students each so it is actually unfortunately, very common that Canadian students end up in programmes in the states of my programme of 10 students, three of us were Canadian.
10 students in a programme that's so small, I guess, per year, is
that what you mean, per year? Yeah. Wow. And that's large for genetic counselling class. The largest is around 20. So these, these are not large programmes. But at least in the States, there's a large number of them, most people come, I would say, come out from biology degrees or psychology degrees. But what I think is great is increasingly more people are like sharing counselling as a second career, people were in research for a little bit of going into it. So increasingly, people are coming from a lot of different backgrounds, which I think is great, because all you really need is you do need biology classes, you'd like organic chemistry, some psychology courses, about side effects, you can kind of come from any any background, a lot of programmes really look for some kind of shadowing experience, they really want to be sure like you understand what genetic counselling is and really want to pursue that as your first choice. So they look for,
they don't want they don't want med school, people who didn't get into med school,
essentially. Or I think they want to be shipped because there's so little programme spots, they want to be sure you want it and I've done the research and programmes really do look for that. So like one bit of genetic counselling assistant. So I think if someone's really interested in genetic counselling, a lot of divisions will hire genetic counselling assistance. So they will help put together things and that can be a good experience for somebody interested in the field has somebody shadowed for how long one of the other things they look for is kind of advocacy or counselling experience. So I worked at a text crisis chat for a year. People work at like counselling centres crisis centres, one of my colleagues in my programme worked at the Special Olympics for a number of years. So kind of that like disability advocacy, a lot of programmes like to see those who have not, that's not necessarily as required as like they really want to see some sort of counselling experience in terms of going to the States. I believe only one programme doesn't require the gra, which is Sarah Lawrence College, all others do. So I know more moving away from it. So I did have to take the gra as my programme that I did get into required it different programmes. I often say have a focus on kind of like do they focus on the science or do they focus on the psychosocial for me, I was really looking for a programme that focused on the psychosocial since I felt with my background, how McMaster prepared me and the fact that I've been doing research for two years by that point that I could teach myself the science I felt comfortable meeting papers, but I really wanted them to psychosocial. So when I was interviewing, that was important to me, like how much that was a part of a curriculum, but any programme is accredited by the organisation that like if you graduate from you'll do the certification, two exams, they'll have to teach somewhat of the same thing. So like you'll learn psychosocial care and sort of fundamentals of fat. You'll learn the kind of 50 plus genetic diseases everybody should know often that will involve like going over cases and lectures about like check conditions across different body areas. I had a class with running like health care and like what is insurance and like in the States, there's all kinds of weird things
about a shirt so that sounds like worse. It was
it was I didn't like what's the deductible. So thankfully it was that but there was also like a disparities and health course just kind of fundamentals of counselling, where we had like a family come in to speak that were diagnosed with a cancer predisposition syndrome or a mom come in to speak, who started with diagnosis, Rett Syndrome, or prader Willi or some some genetic conditions where we really hurt the family perspective of their process and how genetic counselling was for them. And that was part of my programme, also like Addison trench with the family in our first year, which I thought was great, but all programmes will kind of help teach you the medical part of it the fundamentals of like, how do you take your family history? How do you take a pedigree and the psychosocial part, all programmes will involve clinical rotations, at least three are typically closer to sort of five or six that will have you as a student entrenched in a clinic there usually a number of days a week. So you have the practical experience of across all different major divisions. So I had a cancer rotation, I had a prenatal rotation, I had a paediatric rotation, and you have to have a certain amount of cases that you submit to the accreditation organisation before you're like got the check off that you can like work the certification exam. So there's certainly classes but the clinical rotations a big part of it, too. Right. Super cool.
And so now switching back, you mentioned when we were corresponding with you that you are interested in differences in sex development, and intersex genetic aetiology. So I was wondering a bit on how you became interested in this. And I know we talked about this a bit at the beginning, but, you know, like, elaborate a bit more on what is your role in helping families navigate these kinds of conditions.
In terms of my specialty, I was really very lucky and that when I interviewed for my job, the had a physician that really wanted to start this clinic, and they knew that whoever was hired was going to be like that, as a physician's partner. And admit, that was part of why I really wanted my job when I heard about that, mostly, because I think it's it's kind of crossing over to like LGBTQ eye advocacy that I've always kind of been interested in, that was really important, because a lot of my patients, many people, how they identify over time is very variable and up to them. But certainly people that identify as intersex really have this crossover, I think, with this question of genetics, and could there be a underlying genetic reason why they were born with the differences that they've been born with, cuz there really is a structural component. So my role can often be at different stages, we probably see patients most commonly in like two different parts of their life. And Firstly, that's when they're born. So baby, for instance, family was told, oh, you're having a boy by ultrasound, and then patients born and then they have hypospadias. So I mean, the opening urethral opening isn't at the tip, but at the base, Coco, organisms with their testes are up in the body and not dropped down there a couple other structural abnormalities. And all of a sudden, they're it's kind of that what you would say, Oh, it's a boy, oh, it's a girl. And these families don't necessarily get to have that same experience, because all of a sudden, uncertainty is thrown in. There's a lot of cultural work that goes on that like there's such this societal expectation of like, it's a boy, it's a girl, that when families can't say one way or the other, that's really hard. There's data that suggests that a diagnosis of general ambiguity is as hard on a family as a diagnosis is childhood cancer. One is not life threatening. One is, and I think that speaks to how significant that sort of question of gender can be for families. Yeah, I feel really lucky that like, we have discussions about where a family is, is gender veering in a recommendation from us something that's important, is often a genetic tight, like how is finding an answer something that's important. So how can that testing that we consider help them through that we work very closely with endocrinology, urology, sometimes ethics, gynaecology, sometimes social work and psychology often as a multidisciplinary team for many of these families. And it's kind of like, how have you been talking about this to people? How are you referring to baby and mirroring family and that having these discussions of it's important to be open as child grows? There's a lot of data suggests that there's a lot of negative psychosocial impact on adults, if family was really like secretive about their diagnosis. So we have a lot of conversations about why it's important to be open. How do you best talk about these things as a child grows? So there's a lot of good resources that say what zero to six years old you can talk about these things that like all bodies are a little different, but maybe by age like 10 you start to discuss hormones. And what these things look like. So we really try and follow families every year or so, to see how they're doing even if they already have an answer, I'd say the The other thing that sometimes factors in is question of surgery. So out of current controversy, yeah. Well affected people saying, Yeah, I didn't agree to this. This was mostly for like plastic purposes. Yeah, like friends purposes.
Yeah. And I, like have side effects based off that. And I'm not comfortable, like with the fact that this happened to me. And so there's these questions surrounding like consent. So it's this question of like, appearance versus function? How much do we want to wait to have irreversible decisions until child is old enough to consent themselves? So these are discussions, we're starting to have more and more, but it does come with the fact that we allow parents to make medical decisions all the time? Yeah. I was just about to say like, you know, parents decide to have their kids get vaccinated. So it's, it's so interesting to think about consent in this way, or like heart surgery, or all these kinds of surgeries you allow. But I think it's still really important to like, listen to these advocacy groups. And I think they bring up incredibly valid points that we bring up to our families all the time being like, just because you've been told that you have surgery is an option, like you don't have to do it. This is why some families say yes, this is why families say no, we bring up the sort of that oftentimes, these can wait until child's old enough to make a decision to whether they want to undergo that themselves. There's this kind of entrenched medical belief that like we've we've done this for so long. And I think a lot of groups are getting pushback from these individuals as they're older and and that's created its own kind of controversy that that we bring up to families in our sessions. So that can be its own. And ultimately, we whatever family grows with, we support but we always at least like to make just make sure that there's they know that there's an option. And so the other time families come to attention is in puberty, where for instance, a 15 year old girl hasn't had her period, yet she gets an ultrasound finds that there was a lack of uterus and ovaries and there appears to be testes. And they're identified to be x y that is most commonly a condition called androgen insensitivity syndrome. These girls are totally typical. Most of them keep with a female gender identity. That's nothing we always talk about, even with babies that we can always make our best guests with gender hearing, but ultimately listen to patient that they'll tell us kind of how they feel as they grow. But most of androgens, STV, patients are fairly stable. But that's an incredibly like difficult time for patient and family. Because all of a sudden, they've always been told their whole life x y is boy and I live in a realm where that's not the case a lot of the time. But that's still an incredibly hard thing that these families struggle with of this like discordance and how they feel versus what they've been told. So helping kind of families like often I'll just always ask, like, how are you doing? How are you talking to people? How do you feel about this and sometimes just like don't necessarily get a lot back. But I always feel it's important to ask those questions. And still so we have that I have that psychosocial piece, I think a lot more in my like DSD programme, then in in some other areas of my clinic space, just because ultimately, the vast majority of these conditions are not syndromes very, very rarely are they syndrome, I mostly deal in the realm of of nonsyndromic isolated, General ambiguity. So there's generally not a lot of other health concerns. Most of these kiddos are perfectly healthy when they're born and have no other issues. And so it's this kind of, we sometimes give to families that like Congratulations, you made a baby. And we always take make that point of sale saying congratulations, at least. And kind of being with them through the process because there's there's such this sort of gender, sex, cultural and societal places of these things and what we expect I I realised how entrenched they are in my clinic.
Yeah, you've just covered so much stuff. I'm amazed at how well you've been able to cover so many different topics. And it's so nice to hear that even in the medical perspective, you're you guys are integrating the sociological side a lot. So that's really nice to see. And I just wanted to briefly ask if you could give an idea of like, how many intersex people there are, if you have any approximation.
So it tends to it's about 1% of the population with variable features, but it's kind of truly like general ambiguity is about one in 4500. Okay, very interesting. So it's not super common, but like, it's way more than you'd expect. I think it's ignored messes like how still often this does occur, and it's not really something that we ever talk about, and we certainly have I have my clinic once a week and we certainly at least type of patient a new patient a week
and I've heard about androgen insensitivity syndrome before but I find it so cool how people who are raised you know, who are x y who are raised as a girl I guess also because They have traditionally feminine features externally, I find it really interesting how they continue to identify as female even after they're told what their you know, chromosomes are. So that's also super interesting.
Well think about what what does an edge and sensitivity centre mean? So androgens testosterone, it's a variance in the insulin receptor gene. So complete answer insensitivity syndrome. So partial is caused a causes general ambiguity, but complete are these full phenotypic women. And that means they cannot send any testosterone, their body makes it but they can't sense it at all. So they're kind of not getting any of what we would consider these quote unquote, male factors, even with their expiry time.
Yeah, super cool. So kind of going back more to your interactions with patients. I know that me as someone who's seen a lot of doctors, you know, has been shunted between, you know, rheumatologists and family doctors and all these different kinds of people. One of the things that I think me and a lot of other patients find super frustrating is an ad I'm sure it's different in the States, but it's how in Canada, at least, the doctor patient interaction is very rushed. You know, you see a rheumatologist and you see them for maybe five minutes, yes, drive an hour to get there, you waited 30 minutes in the waiting room, they look at you. And they're like, okay, let's increase your dosage. And I think it's super frustrating. I think sometimes how, you know, there's like this lack of connection, and they don't even know who you are, until they look at their clipboard. And so I was wondering, you know, like you mentioned you, you do work more intimately with these families, but that you also do only see them, you know, once a year or just once or twice as a one off. So how do you feel about, I guess the connection that you develop with your patients? Is it ever difficult to maintain that genuine connection within the confines of your work?
That's a really interesting question. It's something that I feel very lucky, as a genetic counsellor that I do get to spend a lot of time with families in the room, so are just really maybe only spends a couple minutes with the patient as well. But as an hour long appointment, I'm spending 45 minutes with them. So I feel very lucky that I am in this position where I can spend the time and can listen to their concerns. And it is sometimes difficult to sort of keep that connection, because sometimes in my division, if the referring provider is wants to be the one to return the results, I may only ever have seen that family once. That's sometimes too bad. But I have to go with the referring provider because they were the one that sent the patient. But that's why I feel like that I have my DSD programme that I do often see families back with more continuity of care. And and I always try to keep that that continuity as much as possible. But sometimes that can be a place where like different genetic counsellors, depending on the area of practice, are able to get more. So some of the neuromuscular counsellors at CHOP, like do gain a lot more of a that continuity and relationship with families more than I do, because most of the patients I see are kind of that those one to two offs. But I still feel very lucky for the fact that I can sit with them for at least that that bit of time. And I try and keep up that that continuity as much as I can. Yeah, it's
definitely tough, because, you know, it's, it's it's a fast moving system, and there's high demand and low supply. So yeah, it's definitely a hard thing to navigate on both sides. I do have one more question for you. I was wondering you, you talked about exome sequencing a lot. And obviously, you know, genetic genetic counselling is something that relies heavily on biotechnology. And so I was wondering if you could elaborate a bit on, you know, maybe two to three techniques that you use a lot as a genetic counsellor, and what kinds of data you're able to get from those techniques like molecular techniques. Yes, molecular techniques, like exome sequencing, or, you know, other kinds of similar techniques.
So exome is probably the most common, the exome platform is kind of unique, and you're getting more and more tests that are what we call exome slices. So you still get all the data, but only focusing their attention on a certain number of genes. Do you want to just briefly explain what exome sequencing is? Oh, yes, sorry. I will
let you know again. Yeah, it's just like the colour read to you.
Sorry, I thought I mentioned it a little bit at the beginning. But an exome is a next generation platform that allows us to get the data of all 20,000 of somebodies genes. Then the analysis pipeline goes through the millions of variants on the kind of laboratory side, in order to kind of filter through towards what we might actually consider to be like the pathogenic variant causing that patients differences. I also am lucky to be involved, like my division works very closely with the lab, but we do the extra tests in house. So we're also involved in that clinical correlation step where we get given here are 12 genes that came back on the exome test. Do you think the clinically correlate to the patient's phenotype? So we say like, yes, we agree that you should report this because we think it might be the answer. No, we I don't think you should report this because this doesn't have any overlap. So we work with the lab to give our clinical perspective on kind of the before the report writing stage, we send a lot of panels says the most the next generation sequencing that like only look at a certain number of genes based off a particular phenotype. So for instance, I'll send like monogenic obesity panels, or M bigger show to a panel, sometimes the most we send exomes on those patients or immunodeficiency panels, or periodic fever panels that only look at a certain number of of genes, but they're not on the zoom platform. So it kind of only looks at those specific ones. And then we do do Sanger sometimes for specific like single gene tests. So one gene I work a lot with is associated with a condition called congenital adrenal hyperplasia, which is a recessive condition that is assessed on the newborn screen for every baby born in North America, because it can cause salt wasting really early in life. So you need to get these kiddos on medication really early. But it also causes general ambiguity in xx individuals, because it sort of through the pathway involves an increase of testosterone. And that teen has a pseudo gene right beside it, the most common genetic change in that gene is he like, I can't remember the search for this terrible, but like a think like transposition of the pseudo gene into the actual gene. So it looks like six different variants on a report, but it has to be staggered in can't really do it next generation sequencing because the pseudo gene in the actual gene are very similar and other sequences. So that's probably one, like we send that kind of platform very, very frequently.
That's so interesting. I didn't realise that Sanger sequencing was still used at all. So Oh, yeah. Yeah, I was surprised that we've been learning about it in class. And it was like, Wait, really? Yeah, it's modified. It's not the original original. But
yeah, that makes sense. It's also used a lot to confirm variants on next generation sequencing platforms. So like, you can have your next generation sequencing, you have a bunch of reads from this period, in order to confirm that it's really there. Like for something to make a critical report, it definitely always has to be saying or confirmed.
Okay, we are running a little bit over time. So I think we should wrap things up. Thank you so much, Jackie, for talking to us. And before we end things, is there anything else that you'd like to add?
I guess, just because I didn't really mention it earlier. But I get part of I know I've talked a lot about why I love genetic counselling. And then I I get to interact with patients and take literature but there's a lot of ways that Jacobs I can get involved with things besides just the clinic. So I'm trying to get involved with more advocacy work, naturally advocacy groups, education, I help teach classes. I'm involved in a committee as part of the local programme, I think there and like kind of publishing and research even as a clinical counsellor. So I think genetic counselling can be a lot of what somebody makes it and their own wishes. Like I really want to be involved in education. So I got more involved in the programme and help supervise students but somebody who isn't as interested in that doesn't have to so I think it's a field that allows us to kind of get involved in what somebody is most interested in, which I think is wonderful.
I feel like we really need another hour to talk to you. We are limited on a part two, please feel free to reach out. Yeah, for sure. I really enjoyed this conversation. Thank you so much for your time. Of course thank you so much for having me on. I really enjoyed this time. This episode is sponsored by Brittany Mr. Britney Mr is a small business started in 2016 and owned by Britney, Britney is currently an undergrad science student with a passion for all things artistic, her mission is to bring you a high quality art that is affordable as art should be enjoyed by everybody and accessible to all i Brittany Mr. You can find one of a kind art prints ranging from adorable baby animals to minimalistic nature pieces all hand painted with love. The art is available on a range of sizes and also as stickers and even on a canvas. They also love taking custom orders. So if you don't see something that's exactly for you, you can just message them and work something out. I myself have purchased the baby penguin prints which I printed out on cardstock paper to display in my room, as well as a couple of mini prints of a handful of blueberries and a watermelon slice. The quality of the art is truly amazing. Everything is very cute and Britney is super accommodating. If you use the coupon code life cy Li f e s ci you can get 15% off the whole shop. Check them out at Britney mr.etsy.com or follow them on Facebook and Instagram at the links in the show notes. So when are you going to become a genetic counsellor? I'm so got one and a half more years of university. Two years master's and I don't know we'll see maybe maybe. I think I It's funny how she was like, Oh, you know, I felt that being a researcher, I felt very, you know, isolated. I didn't have enough time with my patients and I wanted more interaction. And I'm over here like, I don't want anyone to
walk me in the lab.
Yeah, I feel like when she was talking about her journey, I was like, This literally describes Lisa or it's like, I guess, yeah, I guess kind of, except for I think she, I mean, the way she was describing, it seemed like she was coming at it with a bit more of a I want to help people perspective. Whereas for me, I'm like, Oh, my God, look at these cells. Maybe that lends itself more to research. But yeah, I really enjoyed that conversation with her. Yeah, I thought it was interesting. Like how her job is not, like you said, is helping people. But she still gets to interact with the science a lot. Yeah, that is cool. Yeah. And then she was saying at the end how like, she can kind of take it in any direction. Yeah, like education and advocacy and stuff like that. I thought it was really funny how she calls her patients, kiddos. I think Jana did that too. Because? Yeah, I guess. Yeah, but but Jenna calls her Jenna works with literal babies and children like literal children. Yeah, it's just funny, because I think you call your floor fellow kids, kiddos. And I've taken to calling my teenage children, kiddos. So yeah, it just made me smile every time she used it in a serious way. Yeah. In terms of the actual job? Yeah. Like, I do think it's cool that you are kind of simplifying scientific data to patients. And I feel like that's something I would be good at. Like, I think I'm good at explaining things. You know, like, I think that's why I'm good at tutoring and that kind of thing. So I could see myself doing that, I think. Yeah, yeah. And I feel like you would have to keep super updated with the science to the field is changing so much like every 10 years, there's a wealth of knowledge being produced. Yeah, for sure. I mean, we even talked about that with the poly genic versus monogenic. Yes. That the term diseases were like, We don't really know that much about poly genic. to a level where we can diagnose people. Yeah. Work with that clinically. Yeah. I hope that changes in the next few years. Yeah, I think there are certain terms in science, or in medicine, where I hear the word and instantly know what it means. And I'm just so Mind blown by the fact that there is a word for this phenomenon that just like encapsulate the whole thing, or that like, this phenomenon, is considered medically important enough to have like this fancy term. And I think in the case of our interview, that term was gender of rearing. Yeah, I just thought that was an interesting way of putting it, I don't know, because it's kind of, you know, it sounds kind of like medical, kind of like a clinical term. I've only ever heard it referred to, as, you know, like, how they're brought up or blah, blah, blah. But I think sometimes phrasing these ideas in a more clinical way, almost almost allows for conversations where it's easier to talk about it as something important and something relevant to like the kids health because it has this, you know, official term. Does that make any sense to you? Yeah, I think so. Like, it is a medical element of this person's health. Yeah, super. Yeah. That's just like, so interesting. And like having to decide the gender of hearing because I guess, you know, like, when you're two or three, even if you don't gender, your child, other people are going to Yeah, I'm glad she's interested in these topics, specifically, because for the last two weeks in both my evolution classes, I had projects on these topics, so I'm like very in the mood to think about it. Oh, yeah. In our discussion class for the society and evolution class. One of the questions I was raised was if we should raise our children like gender neutral Hmm, and if that is even possible, given that our society is so enamoured with assigning genders Yeah, so I have a tangent off of this you know the game among us.
Why
does everyone listening to this show among us? Hi, dad. There's this game play on your phone super popular multiplayer Yeah, that's true. But does he really listened all the way till the end? But so yeah, so among us, I play online sometimes sad to shame. But I do and it's kind of like a de stressor tool for me between study sessions. But what I've noticed is that when you play online, everyone you just call everyone he like if you're talking about yellow you'll be like yellow vented. I saw him Oh calves, you never say you don't have the time to like, look at their colour and look at their head decoration. Is it a flower is it a hat like, you don't have time to like try to gender them and I just wanted so funny because I'm like, this is like, I feel like this is an instance where it's okay to just call everybody here, because he, like, we're just looking for a pronoun, we're just looking for something so that we can talk about who the imposter is. And you can even feel bad about misgendering, someone who identifies as female, because it's not like you're looking at their actual body, you're looking at this little cartoon character. I mean, it's just it's so adorable, but it's so interesting as well, you know, and so I feel like, I feel like it wouldn't be possible, but it would be, I almost feel like the better thing would just just be like to get rid of gendered pronouns in the English language. I feel like that would work better. I'm not proposing we do that. But yeah, um, yeah, I think that would be easier than, you know, being like, we're gonna call every one day until, you know, they pick a gender. And then we have to remember Yeah, I don't want to rehash the discussion. But I think the general consensus was that as a society, we just need to do a better job of not being so aggressive in our in our engendering forever. And you're talking about the English language like Hello, French. This desk is female. Sorry, if I asked, sorry, if ducks are actually male, and I just missed. Actually, I have no idea. I have no idea. It's been a long time since I was enough. I. Yeah. Yeah. And are prophesying that, like he's had, you know, children. And in Quebec, 30 seconds after the child is born, they put like a blue or pink hat on this trial. It's literally starting 30 seconds. No, that's why we but like not, that's messed up for two reasons. Like the first reason is that you're declaring their gender. But the second reason is that you are saying that girls wear pink, you know what I mean? Like, it's like, on two levels? Yeah. So that's kind of what we were getting as I like, there's just so much ingrained. Yeah, like actions that even if the parents take all the precautions that they possibly could, it's just like, as a whole people interacting with that child are not going to be as careful usually. And yeah, it's just you don't even notice to what level this stuff happens. And I'm not saying that it should all go away. But it's just like, it's a lot right now. Yeah, I think it's very much one of those things where each generation is going to be easier and easier. Yeah, look, because I have a sister who's four years younger, and I think she everyone in her year, or definitely the years below her put their pronouns in their email sign offs, you know, or in their Instagram BIOS. And I think, like, That's surprising, like four years. That's insane. Yeah, I think you mentioned those were like, you were saying, We're potentially the last year where we just missed the boat a little bit. I mean, you know, it's not like a hard cut of cars. Yeah, I know. There are there are people in my year who do that as well. But I think it's one of those things where it's surprising like how fast social norms change.
Yeah,
another tangent kind of relating to how language plays into gendering. I remember. So I had an interesting French teacher when I was in grade 11, or 12. I don't remember which one, I think it was grade 12. His name was most your father, French name. He's a tall fellow with these sharp grey eyes. And I remember him clearly. I remember one day, he just brought a log into class. And he was like, I want you to write about the slog. And I want you to tell me about how it makes you feel. French teachers taught in school, like every French teacher, was a little bit wild. Yeah, he was literally a log that he found. Like, he was like this. This is gonna be today's lesson. Yeah, he did not come from parents. Oh, actually, on second thought maybe he just didn't have time to make his lesson plan for that. Yeah, that's exactly what happened. But still, like the kids being able to consider that like an option. Anyways, that was mostly a photo. And I remember, wasn't at the beginning of the term, but it was maybe a couple months in, he kind of made this announcement. He was like, you know, I'm like, I don't want to make any assumptions about gender and that kind of thing. So if you feel you know, so if you want to write your agenda, when you hand in your assignments and stuff, then I will grade it according to that. You know, because in French you can lose marks if you use the wrong adjunct title ending because you know, if you're female, you should put like an E if you're male, you just do an El I'm probably butchering that. But so I thought that was kind of interesting. And if you're like gender fluid, how does that even work? That's a French don't think French. I can't I actually really do like the French language I associate with my childhood. So I think that one thing that has really drawn me away from going into medicine or going into anything clinical is well one. I do find the hospital setting and the clinic setting depressing. There was just something about the way the lights died in the hospital. I don't know what it is. But it just just brings my mood down. And I don't know how that would impact my happiness. But the second factor is I really hate the nature of doctor patient interactions actually wrote an article about it that's going to be published in one of our student magazines. But um, yeah, basically just wrote a bit about my own experiences with dealing with physicians and how it's frustrating when, you know, first of all, your doctor of your entire life literally still doesn't understand that I can't walk for 20 minutes and, you know, says inappropriate comments that kind of you make you question if your pain is even real. So that's frustrating. It's also frustrating that there is such a difference in, I guess, like intellect or power or status between a doctor and their patient. And that is further amplified by the fact that, as a society, we glorify doctors, and this isn't just Western society, like, you know, Chinese society definitely does this as well. And that makes it even harder for a patient to have, like an honest conversation with their doctor, like, should I go on this medication, you're like, Oh, I, you know, I don't actually need to have an opinion. My doctor knows everything. But the medication that you should go on is it's not completely objective, because side effects differ between, you know, different medications for anxiety. And if I have a history of an eating disorder, that maybe I don't want to go on the anxiety meds that can possibly trigger like, an eating disorder, you know, so But yeah, so I feel like those are things that have led me away from being a doctor working in a clinic. So I guess I kind of like how in genetic counselling, you do get to have a bit more of like, a personal interaction, I suppose. But I think for me, that would honestly be the biggest barrier is, yeah, like the systemic barriers to just having human interactions with their patients? So I don't know. What are your thoughts on that? Yeah, it's interesting to bring up. I was gonna say, Well, okay, I have a few thoughts. But yeah, I think that the genetic counselling, it does seem a very different setup, where she was saying she has like 45 minute, you know, hour long appointments with some of her families and things like that. Which is not how I interact with my family doctor at all. So yeah, that's pretty cool. Yeah, one thing about like the dynamics of patient doctor relationships, I didn't actually think about that before. But that's really interesting to bring that up. I think this is an experience at some some of my friends have had when trying to get diagnosed for mental health issues where the doctor world does not take them seriously enough. And yeah, so much variation in the quality of the medical professionals that my friends have seen. Yeah, for sure. And yeah, that's just like, really unfortunate. And it's like, you always just believe the doctor. And we're not saying in general, you shouldn't believe doctors, like you definitely should listen to your doctor. Yeah. But yeah, it's just hard to get consistent quality and a lot of those kinds of issues, because your doctor is more knowledgeable, and they they are guiding the process. But you need to have input, you need to have input from the patient.
Yeah, exactly. It's not really about their expertise. That's the issue. It's more of have they taken the time to understand what your situation is. Yeah. And there is actually I think, some hope those kinds of interactions are changing, I think, because some of it just has to do with like how the healthcare system is set up and how money transfers to a system. And that's the interactions are meant to make the money transfers, the most convenient. In some cases. What do you mean? Like, do you mean, like, if they're paid by the hour or paid by the patient? Yeah, stuff like that. Or sometimes going through insurance is influences how a doctor will do things. Just in terms of maybe even the medication, maybe it's not perfect for you, but it's covered by your insurance, for example, right? Yeah. Oh, yeah. For sure. Yeah, there's some new models I've heard in the States. I don't know if they have it in Canada, where it's like a subscription models. So you basically, hey, this doctor clinic directly a certain subscription every month, and then you're not going through an insurance company. So the doctor has more incentive to actually take care of you. And what do you mean, you're, you're paying the doctor, instead of paying it for your insurance? Yeah, you're paying the clinic, basically. I see. So okay, so I wouldn't have insurance. Yeah, there would not be insurance. I'm not entirely sure of all the legal discussions around that and how that works. Exactly. But I did read like a pretty cool article about it. And like the benefits about that. So I mean, I can link that if anyone's interested. But it does seem like there's alternative models who are questioning whether this current system of healthcare is the best way to do things. So yeah, and you mentioned that a lot of your friends have had difficulty getting treatment for mental health. And I can't even imagine what that's like, because I've had doctors basically just not believe my physical health symptoms. Like I cannot walk and they're like, Is it because you're out of shape? And I'm like, No. It has been five years. Yeah. So really unfortunate. Yeah, I've seen some research about how that actually influences a lot of pseudoscience being perpetuated, where, you know, people go to the doctors, they're not given the time and attention and care that they need to receive from their doctors. And so there are Like, Oh, well, this person who's very kind and caring seems to have the right answers. And it's a lot of that interaction really perpetuates people turning to pseudoscience alternatives. And also, you and I are both people who are biology majors. And I am a molecular biology and genetics student. And if I feel like I am not like able to have a conversation with my family doctor about what medication I should be on, then, you know, what does that say for people who don't even know anything about biology? Or how drugs affect their body? You know, yeah. Yeah. Another interesting point, definitely a huge power gap there. She mentioned briefly about how sometimes her patients feel this immense sense of relief when they figured out what the genetic problem is, or what the causes to something that they've been enduring for a very long time. I don't think at the time, she knew that this would apply so much to you. We've talked about this before, and how this very much here? Yeah, I think it's definitely a very common feeling for people who have chronic undiagnosed illnesses. Have you watched that Netflix series called undiagnosed or diagnosed? I have diagnosed it as it's called diagnosis. There you go. Yeah. So what's this theory? Yeah, it's enough like series. It's ironic. Yeah, it's ironically about a doctor whose name is Lisa something. And she goes around and, you know, I mean, it's a bit of reality TV mixed with actual medical help. Yeah. I mean, I wish I had a doctor actually look that deep into all my testing and see if there's something we can gather from all this different data. I think my dad once said that the Canadian medical system is really good at keeping you alive. But it's not necessarily good at everything. Yeah. That's, like, if you go to the ER, and you're, you know, bleeding to death, they can help you, which is something we should remember be grateful for. But, you know, room for improvement. Yeah, for sure. I think Julie gnocchi, actually, we had a video addressing today, not the healthcare system in specific I thought you were gonna say not recently, and I was gonna say how deep down the rabbit hole. Did you go? Okay, pretty deep ingestion. Julian okie is a YouTuber who we both recently discovered and liked. She's Canadian, Canadian. But yeah, she did a video comparing like the states to Canada, she did two videos, actually. And one of them kind of is really just in guise of critiquing some of Canada's issues. And how we don't pay attention to them. Yeah, I always say this, like, you can't say Canada's good because we're better than this day.
Yeah, that's fair.
Again, the hesitation in your voice. It's just like, I don't think you understand or comprehend how bad the states are. Sometimes. This is the the Kafka trap situation where it's like, I don't think you know, and I'm like, oh, but I think I know. I can't argue against that, I guess. No, I agree to fix and I have a lot of Canadian pride. Okay, the last kind of interesting thing I want to talk about was the whole consent as a parent thing. even outside of gender, and sexuality, like, yeah, this is a huge topic. And I have no idea how to even approach or think about this. Because as a parent, like, you do have to just make some decisions for your child, right? Like, at some point, you can't avoid things where your child is just not capable of making that decision, like a five year old can't decide which kindergarten they're gonna go to. Exactly, yeah. But it's like, where do you draw that line? And like, how much control should you have over this child's life? And you know, but yeah, I don't know. What are your thoughts about this? I have, I have no conclusions. I mean, you're talking to a woman who doesn't not really sure if they want to have children? Oh, yeah, that's fair. Which, by the way, I totally saw you jump onto her being like, oh, maybe it's a little hand wavy about how women over 35 are. Yeah, cuz there's very few people who are able to shed some light on that. Like, she has a genetics background. She's, you know, a pretty woke person.
Are you just gonna say pretty
know what she was?
Yeah, so yeah, I feel like she would actually have an opinion worth listening to, I think on that topic. Yeah, for sure. I mean, it's strange, because in the vast majority of relationships, parents want the best for their children. Yeah, for sure. It's weird, because, you know, probably because it's what we grew up with. were like, ya know, obviously the parents who decide what kindergarten to like, that's for sure. They should decide if you get vaccines or not, although that one I'm like, a little like, you know, but yeah, like if you need to get open heart surgery, of course, the parent can like sign off on that. But I don't know why when people bring up like if the if your parents are deciding to get circumcised or if you have surgery for like, like an intersex kind of situation. I don't know why my brain just automatically goes No, and I don't have a logical justification for it. Because, you know, if I'm saying your parent could decide if you have other medical operations, like you know, Jackie was saying, why can't they decide if you have an operation relating To like your genitalia, your gender, yeah. The other context in which I think about this a lot is like career stuff where it's like early on, I think your parents do make a lot of decisions about like, you know, schooling and educational stuff and your interests and things like that. But yeah, just like figuring out the degree to which they should be involved in that is kind of tricky. Yeah, for sure. And I think that depends on the family and a lot of the times the cultural context for sure, yeah. Yeah, super successful interview to not attend would do again. might do again, this has been another episode of so you got a lifestyle degree with Jacqueline Leonard about genetic counselling. We want to give a special thanks to our crew of lovely patrons, including our little leaf patrons name, the Neil Shafiq and shimmy. If you would like to become a supporter of this podcast, you can visit our patreon@patreon.com slash so you got a lifestyle degree. You can also rate us on Apple podcasts using the link in the show notes. The music you're hearing is no regrets from audio hub.com Thanks for listening and see you next time.