Episode 8

Lisa Shen1h 16min

Lisa Shen

00:06

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,

Unknown Speaker

02:41

I can relax a little bit.

Lisa Shen

02:43

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?

Speaker 1

03:48

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.

Lisa Shen

04:36

It has been girl sounds very interesting. Could you possibly give us some examples of cases that you've worked on?

Speaker 1

04:42

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

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