Medical Specialties - Clinical Genetics (07 Jun 2023)

SPEAKER_01 0:00

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SPEAKER_02 0:42

My name is Dr. Marile Gianudi, and I am on the TMC, and today I'm delighted to be joined by Dr. Kate Richardson, who's a specialty registrar at genetics in the Northeast. So, Kate, thank you so much for joining me today. My pleasure. So, obviously, apart from you, I actually don't really know a lot of doctors that end up going into genetics, and from what I gather, it's quite a small community. So, can you tell us a bit about why you chose genetics?

SPEAKER_00 1:12

That's a very good question, yeah. I don't really know if I've got a particularly good answer. I think I sort of stumbled across it, probably in medical school, and I've always found it quite interesting. I hate the actual science aspect of it. But then I guess as I sort of learned more about the actual clinical specialty, I realised actually it's quite patient-focused and quite good for things like communication and sort of that side of medicine. I think that's mainly the reason why I liked it. I quite like the sort of complexity of the patients and then problem solving around that. And it's also quite nice from a work-life balance. It's probably worth saying that really early on. It's very attractive from that point of view. It's nine to five, no weekends on calls, you don't have to do general medicine on calls. So I think it was probably a mix of the sort of science, patient groups, communication aspects, and then also the work-life balance side of things as well.

SPEAKER_02 2:02

And you mentioned that you stumbled across it. Was that on kind of a clinical placement? Or was it just, you know, that you ended up having a lecture by somebody who you found really interesting? Because I do think there's a lot of jobs that could incorporate genetics into them kind of early on.

SPEAKER_00 2:17

Yeah, they're absolutely right. So I don't think, I might be wrong on this, but I don't think there's any foundation posts at all in clinical genetics in the country. There might be some GP positions that can do sort of a specialist interest, but I think it's pretty much sort of higher trainees that you get the opportunity to actually work in it. But yeah, so I, as I say, sort of stumbled across it. And I think it was in fourth year when we were doing the sort of block in medicine where you covered different specialties, so things like hematology, infectious disease, clinical genetics. And we had a seminar with Dr. Brennan, who's one of my colleagues now, and Professor Sir John Byrne. And I just sort of found the case that they were discussing really interesting, and I just started getting chatting with them. And then at that point, I organised a student-selected component in genetics at the Centre for Life in fourth year as well. So that was sort of my real, like initial exposure to it. And I think most people not necessarily have come across it in medical school, but I think to get the exposure, you really do need to try and take up those opportunities, whether it's sort of SSEs, electives, or like taster sessions in F2 or in your core training. I think that's the main way people do get exposure to it. And do you mind me asking, what is a typical day? What does that look like for you? I knew you were gonna ask this. It's really difficult, I think, to predict. It's certainly not the way I think through training you get used to your sort of typical days of going on the ward, doing like a board round, doing a ward round, maybe going to clicks. It doesn't really work like that. It's probably easier to describe a couple of days might be less than than a day. So over a week, I tend to do a few clinics. So it depends on the week, but maybe sort of one to three clinics and training, and that's where we'll see the sort of actual patients. But before that point, because the patient that you're going to be seeing, it's highly likely you've never seen that condition before or that genetic change before. There's quite a lot of time dedicated to sort of pre-clinic preparation. So I'd say for most clinics, you probably spend the same amount of time doing preparation for it, which I think is quite unique and feel quite privileged to have that in genetics, to have that time. And then there's then quite a lot of admin afterwards as well. So that's a real big component of the job. So actually organising the testing, looking when you get results back, actually looking into the variants in quite a bit of detail, and then actually doing research into those genetic changes or those genetic conditions. So I say quite a lot of preparation beforehand, but then also quite a lot of research and admin after a clinic. So that's sort of the clinic side of things. And then the rest of the week's mainly made up with different meetings. So we do like a meeting where we look at children that might have facial features, so dysmorphic facial features, where we can look at that as a team, or we might do different MDTs. So things like we do a neurogenetics MDT, or we do a cancer MDT, where we discuss cases just the same way as any other MDT. And then depending on the sort of week, whether you're on call, you might actually go and see an unwell child on the ward or sort of do it the cute side of the job, but that is quite a small portion of the work. It's mainly outpatient work. I hope that sort of answered the question. I haven't really explained a typical day, but that's sort of what we'd do, I guess, over a week.

SPEAKER_02 5:22

No, no, and I guess it's really good to know the kind of variety that you would have. I'll just quickly ask before you mentioned that it's a lovely job because nine to five, no general medicine on calls, but then you mentioned that you do have genetics on calls. So what are they like?

SPEAKER_00 5:38

Yeah, so they're just within working hours, so within your sort of week. And the way we do it in the north is we have like a registrar of the week, and then there's also a consultant of the week as well. So that's sort of the person that I suppose is on call. And when we do that role, it's really to answer routine questions. So routine questioning about testing. So we might get pediatricians or GPs ringing in asking about how do I organise this type of genetic testing or is this type of genetic testing appropriate? But then we'll also get the sort of referrals for ward patients. So we usually get maybe on average one or two a week where there's an acutely unwell child on the ward, and that's due to an underlying genetic condition. So that might be a baby that's just been born, or it might be a child, and then we'll often go and see them on the ward, do a review, and then organise urgent genetic testing at that point.

SPEAKER_02 6:29

Okay, and obviously you've gone through it and having done core medical training, but you've mentioned quite a few times that actually some of your patients are children. Is that common? Do you get any extra training for that? Or is the only route to go into genetics via core adult core medical training, and then you just learn on the job?

SPEAKER_00 6:48

I'm glad you mentioned that because you can actually enter clinical genetics with I think the majority of core training posts. So you can do it with core medical training, you can do it with core pediatric training, you can actually come into it really via any of the other routes, so psychiatry, surgery, and I think it's just builds on those core skills that you're learning core training years. So seeing patients independently, managing your workload, those sort of skills that it really builds on. Because I think the expectation when you actually start especialist training in genetics is that you really don't have any genetics experience. So that's what they sort of teach you really early on. So currently in the Northern Deanery, we've got two registrars that are adult trained from their sort of background, and then two that are trained from pediatrics. So it's quite nice having a bit of a miss. But certainly when I started, I was very, very nervous and apprehensive about seeing children because I haven't really seen a child since 50 years. So it is a bit of a learning curve. But my colleague that worked in pediatric, I think she sort of felt like that a little bit from the adult perspective because our patients are sort of the family, so we see all age ranges, including dealing with things like fetal medicine as well. So as I say, I think it's good that you can come into it via any route. I don't think it necessarily hinders you what way you come in, but I think it was just that sort of confidence aspect. I felt a little bit unconfident and initially seeing pediatric patients. But the team here were aware of that, and I sort of sat in on some general pediatric clinics to start with, which was quite nice to just see some children and bring you revisit development and that sort of thing. Bits that you learn in Vicia that, as I say, I just haven't touched on since.

SPEAKER_02 8:21

Yeah, I can imagine I can't think of anything more terrifying than looking after a child.

SPEAKER_00 8:26

Yeah, I think important with that is what you are supposed to do in genetics is your main role is really about that sort of diagnosis. And even though we do see children, we're not there to be pediatricians. So the pediatrician in a child with a genetic condition is still a fundamental person involved in their care. So, like general pediatric issues, we leave that to the pediatrician.

SPEAKER_02 8:48

So obviously, there are many different ways that you can come into genetics. And I know, especially for our listeners, that this will change year on year. So it's really important that you keep up to date with the latest application process. But do you mind if you talk us through the application process at the time that you applied? Was it two years ago now?

SPEAKER_00 9:06

Yeah, so I applied two years ago. I sort of initially had looked into applying the year before that, but with genetics, the numbers are really quite small, so it can sort of range nationwide to about sort of 10 to 20 jobs overall. I knew I'd really wanted, if possible, to stay in the northeast. So the initial year when I finished CT2, there wasn't any numbers in the northeast. So I waited a year, which I think a lot of people do in genetics, or it might be that you have to potentially move around the country to get the jobs if they they're there, just because the numbers are so small. So I applied, yeah, about two years ago. It was just the sort of standard application through the higher specialty training. I had the luxury knowing that I was going to be applying the following year. So the year prior to applying, I suppose I've put quite a lot of commitment into making my CV as best as possible and trying to make ties with the actual department in the Northeast because as I say, I knew I wanted to work here if possible. So I wanted to try and make my sort of one shot as good and as likely as possible to get a job. But that's not to say everybody has to do that. So one of my other colleagues was very happy to move around and she applied and she obviously got a job and she moved here, and I think she's very happy here. And I think you can approach it in different ways. But probably what I found most helpful was actually speaking to a genetics department and finding out about the job and then trying to suppose tailor what I was doing and preparing for applying to what I was going to be doing for the rest of the time in training and as a career. So just tailoring things like audits or teaching or attending meetings in genetics to just sort of show that commitment to the specialty and trying to get to, I think in medicine and in pediatrics, you don't necessarily have to go to a lot of genetics clinics, I think, from an applying point of view, but there's lots of genetics clinics that happen that you might not know about it. So there might be like a cardiac genetics clinic or a dermatology genetics clinic, and they might only happen every couple of months. But I think it's quite good to show that you have the commitment to specialty by going to those sort of cliques, and they're usually a little bit easier to get into because you might be able to do that just through your normal department. So for me, I was working in renal medicine in CT2, and that's really when I was able to actually spend quite a good amount of time looking into renal genetics and attending some renal clinics, but they were renal genetics clinics. So I was sort of ticking my CT2 clinic box and getting the general medicine clinic experience, but also they were genetic focused, so it was quite nice to get the experience from that perspective, but then also be able to show that on the application and then discuss that at interview as well.

SPEAKER_02 11:36

So you mentioned that there's no prerequisites, there's no knowledge that you need when you start the training programme. You will learn everything that you need. Do you think that the main thing that anyone potentially considering in applying would be just to show this ongoing commitment to the specialties?

SPEAKER_00 11:52

I think so, yeah. I think that's really what they want. And I I sort of get the impression that that might be quite similar to a lot of specialties, especially ones where they are quite difficult to get experience in before specialty training. So I think that probably is the best thing, and just sort of looking on the curriculum and on the sort of person specification and making sure you are ticking those boxes and showing evidence at you or what they want as a trainee. And that's really sort of what came about, I think, in the interview as well. They were just when they were asking me about clinical genetics and in the interview, and it was very sort of general things. They didn't ask me anything that they would expect at all of anybody else in core medical training. So it was all very general stuff about sort of how you are committed to teaching and an example of teamworking and all those sort of general skills that you learn, I think, in core training, and then just if you can, applying a little bit of a sort of spin on it, showing actually this is what I do as teamworking and this would be good in genetics because, and then sort of ending it that way. I didn't get the impression at all that they expected anything from you from a knowledge perspective or even an experience perspective, because it is quite difficult. We know that our centres are regional, so it might be that you don't work anywhere near a genetic centre, and then it's really difficult to get into that from an experience point of view. So I think anything that you can do to just sort of build on those key person specification areas and then reflect how that would be helpful if you were doing genetics. I think that's the main thing that we were after.

SPEAKER_02 13:24

Right. Okay, and what I'll do is I'll make sure that you have access to the person specification on the footnotes of this podcast. So hey, can you just briefly talk us through the training programme? Because I gather that it's not quite the same as those of other medical specialties.

SPEAKER_00 13:40

Yeah, you're right. So it's one of the good bits, I think, one of the sort of many good bits, is that you are based in one region, typically in sort of one specific centre, because the centres are regional. So I think this is the case for most genetic centres in the country, but in general, so you will do your full four years in one place. So I work at the Centre for Life, and then we do clinics here, but then we do outreach clinics in different parts in the region. So you might have to travel, but you'd only have to travel for a day, so you don't get sort of moved around different hospital bases over your four years, which is very nice for setting up route. From the training perspective, so it's I say it's four years. I think different places do things slightly different, but overall I think they tend to work in like a block structure. So in genetics, there's lots of different small subspecialties, and I think in training it's important to try and get exposure to all of them if you can do. So the way that we work it up here is you tend to do around six monthly blocks. So you might do like six months of general genetics, so that might be seeing patients, children and adults. You might see things like neurofibromatosis type one, so one of the sort of more common genetic conditions, or things like Marfan syndrome. And in that, you will probably see quite a lot of children with developmental delay or dysmorphic features that might have sort of a genetic diagnosis. And then you might move on to a different block. So for example, you might do six months of cancer genetics or six months of cardiogenetics or neurogenetics, and then you tend to sort of do that over the four years until you've achieved your competencies that are set out from the curriculum. But with that, there's quite a lot of scope to do other things. So it's very much encouraged to do research. You also have to sit an exam during that period, and you also encourage to do a postgraduate certificate in interpreting genomic results as well. So there's lots of different bits of the training pathway, but that's sort of the main four years. Yeah, that's pretty much it.

SPEAKER_02 15:37

And with that postgraduate certificate, is that something that you can get funded as part of your training programme, or would you have to find funding yourself?

SPEAKER_00 15:44

Yeah, no, so it's funded. So all of the clinical genetic trainees in the country have it funded. It's sort of just accepted that it's part of the training pathway. I think you can opt out if you've done other things. So some other trainees might have done even different postgraduate certificates and similar things, or like masters in genetics, but it's really targeted at clinical genetic trainees. So the course is really designed for us to get that fundamental knowledge about genetic testing and then interpreting the results of it for sort of our future practice.

SPEAKER_02 16:12

Oh, that's really interesting. So, what advice would you give to somebody that was potentially thinking about applying for clinical genetics?

SPEAKER_00 16:20

So I think try and reach out to anybody that you can do that is in genetics, where I think we're quite a nice breed of doctors. I think we all have very similar personalities and that we all love that communication fight of things. And so I think in general, people will be really friendly, and certainly anybody that I asked, they were always very, very friendly. So the person that I sort of had made contact with during my SSE had actually left when I was asking questions in F2. So in F2, I tried to organise a taster session, and that person had left. And so I got pointed to someone else, and they were as helpful. They'd never met me before, but they were just very welcoming and encouraging that there was somebody that was interested in the specialty because it is a very small specialty and we don't get massive numbers of people being interested. So I think if you are interested, really do try and make those relationships and try and build on them because then I think that's really how you then get the opportunities. So I then, with that taster session, so I did one in F2, and then the madness of core medical training happened and uh didn't come back to it for another two years after that, and then re-emailed the same person. They were very happy to hear from me again. I basically apologised that life had been very busy during core medical training, but could I now do another taster session? And they were very happy to do that, and that's when, as I say, the other opportunities came about. So I asked about doing an audit. I asked about participating in some teaching. So I think if you can, the one piece of advice is try and speak to a friendly geneticist and try and get that sort of experience. And then also just sit in on some clinics and see if you like it because it is quite niche, it is very different from ward-based jobs. All of the bits I think I love about the job are because it is different. I mean, I loved ward jobs. I do miss the sort of ward environment, but you have a completely different environment here in that you work really closely with the consultants, there's four registrars and ten or so consultants and then ten or so genetic counsellors. So it's not a big department, it's not a massive team. And I think sort of finding out whether that's something that you want for the rest of your career, or actually, do you love different bits and it maybe isn't the fit for you? But I think if it is the fit, I would definitely recommend it. I don't think I've been sort of happier in my career than I have been actually doing genetics. And I think it is just that finding something you enjoy, but it also being not the whole thing of your life. I think when you're in training, especially sort of medical training, or I get the same impression from pediatric, it's really hard. It's really busy, you're working shifts, you're having to do all of your portfolio out of hours, and it's just not like that in genetics at a very different pace. So I think if you do enjoy it and you do want to do it, find somebody that can be a bit of a mentor and then keep going, try and get on the training programme because it is really amazing. I mean, I think I can hear your smile through the computer with how much you like it.

SPEAKER_02 19:07

So if that doesn't sell it to people, I don't know what will. Yeah. I'm not actually trying to sell it.

SPEAKER_00 19:13

I know. I just I think like we obviously have known each other for a very long time. And I think when you don't quite find what you want to do, it's really difficult in medicine because you sort of see these people that have found their little like corner, their little club, and you're like, can I not just find that? And then I think it's nice when you've then found it. And it just sometimes takes a lot of years because yeah, as I say, I sort of found it in fourth year, but then ignored it for many, many years, and it really was sort of CTT where I was like, no, actually, I do want to do this. I've just been busy with other things and doing foundation and doing co-medical training, and actually, no, it is really good and I think it fits me well. And I think there are other people like it probably does fit as well, it's just difficult to know that it's out there. But I guess that's part of why we're doing it today. Exactly.

SPEAKER_02 19:59

So I think the last thing that I want to ask you, and obviously you will protect patient confidentiality, and this is if you're happy to do so, is if we could maybe discuss an interesting case that you were involved in. Because I know we've discussed what you know your week may look like, but I think it can be quite difficult for someone to appreciate the kind of patients that you may see. Because obviously, we go through medical training knowing that you know there's this genetic condition that causes this, but and you know about the role of the counsellors and all of this kind of stuff, but in a very, you know, distant way. Yeah. Um so do you have a case that we could potentially talk about?

SPEAKER_00 20:33

I think it might be a little bit tricky just because all of our cases are very individual. So trying to actually anonymise it from a confidentiality point of view, I think it'll be really difficult. But from like a general perspective, I think what is quite satisfying or what I really do enjoy is if you do get a very a lot of our sort of children might have had quite a long diagnostic odyssey where they've seen lots of different people, they've never really had a diagnosis, they've got sort of multiple problems, often things like developmental delay or different congenital abnormalities or failure to thrive, so sort of very non-specific, multiple issues. And I think it's very good for the family if we then are able to give them a diagnosis. And I think there's real value in that. And even though we appreciate that at the minute there isn't a great deal of treatment, it might be that that does change in the future, but I think actually really being able to sort of give a child a label that the parents can go away and speak to other families with that same label, even if there's only 10 families worldwide, just to have that support that they often don't get when a child has a rare condition. I think that is really important. But I'm sorry, there's so many different interesting cases, as you can imagine. But I don't think I could probably be more specific about that. No, no, no. We rarely see something twice, so saying a condition's name, um, I think would be yeah.

SPEAKER_02 21:54

Yeah, no, that's absolutely fine. Can I then just ask? You've obviously mentioned about how you maybe referred children to diagnose. How does it work with the adult population? And that will be my last question. That's all right.

SPEAKER_00 22:05

So from the adult population, so it's often a bit more of, I guess, a narrow phenotype or sort of like clinical feature. So we tend to see adults more in the context of things like familial aneurysms or cancer. And that's I think what I'm more interested in. And I think that's just because of coming from adult medicine, I gravitated towards that side of things. So it's really then, I guess they get referred because they have either a particularly strong family history of related cancers. So, as an example, breast and ovarian cancer or bowel cancer in things like Lynch syndrome. So they might have a particularly strong family history of cancer, or they might themselves have a rare type of cancer, or they might be young with a cancer as well. So a particularly young breast cancer will be referred to us. And that's when I guess we'll then think about is there an underlying genetic condition or genetic change that has predisposed them to having those cancers in themselves or in their family. So it is very different, and I think that's quite nice. I really like that variety, but it is quite difficult, I think, to get your head around. It sort of feels like two completely different hats when you're seeing like a cancer family, and then the next patient might be like a pediatric patient. But as a consultant, I think you do tend to specialise a little bit into either pediatric side of things, which might be dysmorphology or fetal medicine, or more sort of adult medicine like skin cardiac cancer. Right, okay, okay. Does that sort of answer the question? Yeah, no, it does. That's great. I was reading something when I was looking into things for being genetics, and I think the first thing said, your friends or your family will never know what you actually do in genetics. And I think that's probably true.

SPEAKER_02 23:41

And that summed it up perfectly. So for anybody, I guess, that wants variety, that wants to work nine to five, and you know, that likes I guess you're just solving lots of puzzles, then genetics is definitely something for you to consider. So on that note, Kate, thank you so much for talking to me today and for introducing us to the wonderful world of genetics. To our listeners, thank you for tuning in to this episode. Please feel free to check out other kind of group two specialty episodes on career conversations. And don't forget that we also have our clinical conversations podcast as well. Thank you for listening. Thank you.