S01E1: What is genetic pathology?

Hosted by RCPA Vice President, A/Prof Trishe Leong, Micro Waves is a Pathologist Cut spin-off exploring the fascinating careers in pathology.

In the first episode, we explore the work of a Genetic Pathologist and speak with Dr Samantha Sundercombe on this captivating area of medicine. Genetic Pathology is one of the fastest-growing medical specialties.

Copyright © 2022 The Royal College of Pathologists of Australasia. All rights reserved.

Transcript

[Dr Samantha Sundercombe]

I hadn't really considered pathology as a career discipline because we just didn't see pathologists. If you can't see it, you don't think you can be it. So the way I got to pathology was through serendipity.

[A/Prof Trishe Leong]

Associate Professor Trishe Long. I'm an Anatomical Pathologist and I'm the vice president of the Royal College of Pathologists.

[Voiceover]

Find your path to pathology with the RCPA Micro Waves podcast.

[A/Prof Trishe Leong]

Today, I'm delighted to speak with Dr. Samantha Sundercombe. Sam is a senior genetic pathology registrar in her fifth year of training. She's a member of the RCPA Trainee Committee, as well as being the trainee rep on the Genetic Advisory Committee. And she recently won the RCPAQAP Trainee presentation with her presentation on delivering high throughput urgent exome sequencing at a diagnostic tech laboratory, at Pathology Update, which I had the pleasure of listening to.

So welcome, Sam, to the RCPA Micro Waves podcast.

[Dr Samantha Sundercombe]

Thank you very much, Trish. And thank you for turning up so early on Saturday to listen to my talk.

[A/Prof Trishe Leong]

Not at all. It was no, it was it was a great session. So we are going to kick off. We’re grilling you today, Sam, on a variety of things. And hopefully at the end of it, people will have more of an idea about, I guess, what a genetic pathologist does and why you might want to go into genetic pathology.

And personally, I think I think if you're not doing genetic pathology at the moment, you know, you're definitely missing a trick. If we start more generally, though, and apparently everyone gets this question, so apologies. What is pathology?

[Dr Samantha Sundercombe]

And you can see where the my answer matches everybody. So to me, pathology is a medical specialty to do with diagnosing disease. It's quite a scientific discipline compared to some of the others. And it's very cross discipline which I really enjoy.

[A/Prof Trishe Leong]

So for those and for those listeners who might not know much about genetic pathology, how does how does genetic pathology fit into the broader scheme of things?

[Dr Samantha Sundercombe]

Then Genetic pathology is a relatively new but established, now established discipline, and it's relatively small. So the first genetic pathology trainee graduated in 26, but now there's about 20 of US training and at the time across Australia and New Zealand, and it's a strain. So you train just in genetic pathology and it focuses on particular genetic tests as opposed to different ways of diagnosing, using pathology, like looking down a microscope or that sort of thing.

[A/Prof Trishe Leong]

So when would a doctor order a genetic test? What's the sort of, you know, typical kind of scenario?

[Dr Samantha Sundercombe]

And so there one of the things I like about it is it's so broad and we can get requests from all sorts of doctors for all sorts of reasons. But the main reasons why a doctor would order a genetic test would be to diagnose a genetic condition for example, they might be a specialist genetic paediatrician, and they have a child with a specific sequence of clinical features that suggests a particular genetic diagnosis.

[Dr Samantha Sundercombe]

And then once they have that diagnosis, that can really help the family have an answer. And also it can help them get access to particular treatments and services. Other reasons you might have a couple that are healthy who are looking to see whether they're carriers of a genetic condition, and that's becoming increasingly popular and available. And that testing is often requested by GP's or obstetricians, and it would enable the court of law to then make choices to help them have a healthy baby.

[Dr Samantha Sundercombe]

So if they're birth carriers and most people aren't, which is really good, then they can sort of have reproductive options. So they might want to do IVF and then test the embryos, which is another genetic test so that they can pick out one that doesn't carry that particular genetic disorder. Other options would be in the oncology space, the cancers, a genetic disease, and a lot of patients have particular genetic mutations in their cancers that drive those cancers.

[Dr Samantha Sundercombe]

And increasingly more and more of those particular mutations are targetable by a particular medications that act within the cell to reverse them. And we call that precision cancer medicine. So once that particular mutations identify, then that can help the patient have access to treatment or they can identify treatment resistance, and that can be spread side effects and a treatment that would potentially be futile.

[Dr Samantha Sundercombe]

And then another cool reason why I talk to my daughter, a genetic test, which is kind of related is if they're about to start a particular medication or if the patient's having side effects with a number of medications, then you can do what we call the pharmacogenomic test which will see whether there are particular patterns in the genome that mean that a particular medication would work better or that they'd need a higher lower dose So I'm currently working at Douglas Hanly Moir, which is a private pathology company based in Sydney.

00:05:37:08 - 00:06:05:06

[Dr Samantha Sundercombe]

And we've just let we've started doing non-invasive prenatal screening pretty recently, like in 20, 20. And we're doing a lot of that at the moment. So you've probably heard about it. It's where you take a blood sample from mum and then you set from that. There's actually cells from the baby, from the placenta and DNA from the placenta and you use that to, to screen for common genetic conditions like trisomy 21.

[A/Prof Trishe Leong]

How about your, you know, your sort of day-to-day interaction with the other pathology, pathology disciplines. Do, do you know, is that solo work or do you do work a lot across, across the disciplines.

[Dr Samantha Sundercombe]

So, so when I, when I started pathology, I was worried that I'd be really lonely, but it's not like that at all. So you, you spend a lot of time interacting with other doctors, including other pathologists and the sort of the people that we spend the most time talking with in the pathology space anatomical pathologists who are. Patricia is one of them.

[Dr Samantha Sundercombe]

So forgive me if this is not the best description, but the way I describe it to my family, the people who look at you with down microscopes and tell you whether it's cancer or not and what type of cancer and whether you got it, whether the surgeon got it all.

[A/Prof Trishe Leong]

Sounds right. 

[Dr Samantha Sundercombe]

So we spend a lot of time talking to them about particular genetic tests that they might have requested that will either aid the diagnosis if it's not clear from the microscope, or that will give access or resistance to precision therapies.

[Dr Samantha Sundercombe]

We also spend a lot of I also spend a lot of time talking to haematologists that the pathologists that specialize in blood disorders. One of the tests that I am reporting at the moment is PCR able So that is a particular mutation that drives that particular blood cancer called chronic myeloid leukemia. And it's really cool because if they have that particular mutation, does a targeted therapy or a number of them now, that will just make it go almost away.

[A/Prof Trishe Leong]

So important to the patients.

[Dr Samantha Sundercombe]

Yeah. And then they can live for years and years and years and it's just amazing. But yet we I report that and if the levels go high on treatment, then on coal, they metallurgists then they can get them in under either more genetic testing for resistance or change the therapy.

[A/Prof Trishe Leong]

So, you know, if someone's thinking about genetic pathology, maybe, maybe it's a career option. So can you tell can you tell us a little bit about what your typical day is like?

[Dr Samantha Sundercombe]

Absolutely. There's a lot of work, but you're in control. You don't get caught up in the middle of the night and have to come in for emergencies. They come in at about eight in the morning check emails, do your reporting. I'm on call for doctors that have questions about genetic testing. So I've you know, I've answer a lot of those inquiries.

[Dr Samantha Sundercombe]

And when I say reporting, it involved. So you work really closely with scientists. Genetic scientists are lovely, but they do the pipetting and the PCR and put it on the machine and then analyse it and then usually draft the report for you. But then you check what they if you look at the data yourself, you make sure you agree with it.

[Dr Samantha Sundercombe]

You interpret it often. You have to for complex cases, you have to interpret multiple tests and marry them up to what that means for the patient and what that means for the disease. And that's why your medical background is important and where you add value. I talked about the medical consultation as well. So you're there to provide an interface between the laboratory and the clinical environment to the doctors that are seeing the patients that you're doing the testing for.

[Dr Samantha Sundercombe]

And that's quite broad and that who those people are depends a little bit on what lab you're working in and what tests you offer. They can include clinical geneticists to us, usually specialists, paediatricians, they can be adult physicians who seem very complex patients with multisystem diseases. They could be other pathologists, as I've said, or I talk to a lot of Gynae and obstetricians.

[A/Prof Trishe Leong]

The real range of what they might know and what you might have to explain.

[Dr Samantha Sundercombe]

Absolutely. Yeah. Absolutely. Absolutely. Yes. And then your other key role that you spend time doing as the genetic pathologist is laboratory management and and supervision and clinical governance.

[A/Prof Trishe Leong]

So that's quite a broad range, range of tasks that that you cover. What kind of what sort of personality do you think you have to be or what sort of what sort of traits should a person have to do that will make them be a good genetic physiologist?

[Dr Samantha Sundercombe]

Yeah. Oh, that's a cool question. So, I mean, we're not all the same, but I think things that help our a lot of initiative particularly during training, because it's new and it's small, it's a bit different to training in some of the other disciplines where it's very prescribed, what you should be doing when you need to make opportunities for yourself in a busy in a busy diagnostic laboratory environment.

[Dr Samantha Sundercombe]

Yeah, you need a passion for science. There's a lot of detail that you're going to have to make fit to do it, which I like, and then attention to detail, which I think is important for any pathology.

[A/Prof Trishe Leong]

Yeah. What about, I mean, so you were a genetic scientist before, so you already or you were a scientist before, but not in genetics? What drew you into genetics?

00:11:31:05 - 00:12:04:14

[Dr Samantha Sundercombe]

How did I get here? Oh, this is a this is a funny story, and it involves a lot of serendipity. And I'm passionate about women's health, so I did obstetrics and gynaecology. I did my so I finished medical school, you know, did an honours project in neonatology. I did a graduate diploma, surgical skills, and I was very focused and then got on to the obstetrics and gynaecology training program, which is very competitive but then once I was there and it was.

[A/Prof Trishe Leong]

Realised you wouldn't be sleeping for the next four the next five years.

[Dr Samantha Sundercombe]

Oh, I think I knew that anyway. But it was more that I realized it didn't suit me like having that level of responsibility for making life and death decisions in seconds and running labour ward like some people are really bad.

[A/Prof Trishe Leong]

And I was exactly the same. It kind of the immediacy of like working in aid couldn't you know, it's not that we not the way decision makers we can make decisions, but you like a little bit more time to consider it and make sure you're doing the right thing.

[Dr Samantha Sundercombe]

Yeah. For me definitely. My supervisor was great. She's obstetric medicine specialist and she was good friends with an anatomical pathologist at Prince of Wales. And we had a meeting and she said, you know, let's think about everything. Think about pathology. It was serendipity because Dr. Christine had actually lost one of her registrars to obstetrics and gynaecology and had a job.

[A/Prof Trishe Leong]

The group exchange was made.

[Dr Samantha Sundercombe]

So I was going to take a year off, but Dr. Chen was like, No, I applied for that job. So I did or what I thought I saw the genetics and.

[A/Prof Trishe Leong]

I had kind of almost. Yeah, and almost fits nicely with the O and G stuff in the sense that, you know, as you say, a lot of the genetic tests are around childbirth and babies and that sort of thing. Yeah, you got a bit of extra exposure there already?

[Dr Samantha Sundercombe]

Yeah. So, I feel like I can help those same patients any way that suits my personality and my strengths a lot better.

[A/Prof Trishe Leong]

That's a much that's a much better origin story than mine. Well, it's very boring.

[Dr Samantha Sundercombe]

Tell me.

[A/Prof Trishe Leong]

No, no, no, no. That's a that's for another podcast.

[Dr Samantha Sundercombe]

Okay, I'll look forward to that.

[A/Prof Trishe Leong]

This is a total Dorothy Dixer, Sam. But does the college offer anything for medical students or junior doctors? If they want if they want to learn more about genetic pathology or get a get a foothold in it?

[Dr Samantha Sundercombe]

They definitely do. And can I just say that there are very friendly college.

[A/Prof Trishe Leong]

You’re not just saying that because I'm the vice president?

[Dr Samantha Sundercombe]

No, no, not at all. Yeah, but the Fellows are very talented and so. So yeah, the college, the as it's called, the RCPA, they've got a great website if you want to find out more. But they do have specific opportunities for students. And so, they for medical students and also science students, they offer RCPA student scholarships, the idea there is that you would get the scholarship and you would work with a Fellow with the college like a qualified pathologist, and you do a project which might be a good honours project or an elective.

[Dr Samantha Sundercombe]

I think that's an excellent opportunity if you're looking for a project. So, you want to set up a scholarship, that type of thing. That would be a great idea to get involved and to meet some people and find out what it's like. Every trainee has to see the basic pathological sciences exam. It's on the first 15 chapters of Robinson & Coltrane’s Pathological Basis of Disease.

[Dr Samantha Sundercombe]

We all have tested it so that we all have the same basic knowledge so that we all understand what each other are doing, which I think is a really good idea. And I did it in my first year of training, of specialist training. But if you're keen, you can do that as a medical student, it costs it's very cheap.

[Dr Samantha Sundercombe]

It's like $150. If you do it as a student, that's an option for you. And it might be quite efficient if you have already studied for your medical student exams and you remember everything anyway to get it out of the way before you're doing junior doctor work. There's also social media, or you can contact a laboratory and you might be able to organize a visit.

[A/Prof Trishe Leong]

That's fantastic information. Thank you for the plug so any final words then for a medical student or who's considering genetic pathology?

[Dr Samantha Sundercombe]

Oh, I seriously consider it. It's a very rewarding, fascinating discipline that's growing. I really like it. If you want to talk to me, you're more than welcome. Yeah, I would seriously consider going for it.

[A/Prof Trishe Leong]

Yeah. Fabulous. Thank you so much, Sam. You've been a fantastic first interview.

[Dr Samantha Sundercombe]

Thank you very much.

[A/Prof Trishe Leong]

And I think you've held up you've held up the banner for genetic pathology, I think.

[Dr Samantha Sundercombe]

Excellent. Well, go for it, people. And thanks very much Prof Leong, its been a pleasure.

[Voiceover]

To find out more about a career in pathology go to rcpa.edu.au.