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July 2019 | Published by RCPA

Issue #093

An insight into genetic pathology training

An insight into genetic pathology training

Genetic pathology is one of the newest disciplines in pathology. It involves the diagnosis of genetic diseases, primarily by overseeing the testing of patient samples for mutations in DNA or RNA. The Royal College of Pathologists of Australasia (RCPA) runs a 5-year training program in genetic pathology, with those graduating being awarded a Fellowship of the RCPA. We spoke with recent graduate Dr Cheng Yee Nixon to discuss what is involved.

“There's a saying that was bandied about when I was in medical school: 'There is a niche for everyone in medicine'. I never used to believe it. While everyone at med school had multiple things they were interested in, I just couldn't find the one thing I wanted to do for the rest of my life. Having said that, I have always been interested in genetics, but I (a) didn't really know that genetic pathology was an option (no one ever talked about it - not at career nights or anything!), (b) had never met a genetic pathologist, ever (turns out there were none in NZ, so not really anything I could do about that!), and (c) never thought I'd be smart enough to do genetics. As evidence of just how little is known about genetic pathology, people often assume I do one of 4 things: look down a microscope, help people find their ancestral roots, do crime scene stuff like in CSI, or do 'research'. So, I think it's fair to say that it isn't a well-known specialty, even among medics.

“No one in my family is a pathologist. In fact, no one in my immediate family is in medicine. My mum still asks me what I do, and struggles to pronounce pathology! Genetic pathology appeared at a crossroads in my life and ‘chose me’. In a strange and unexpected turn of circumstances, I found myself interviewing for a role that I had dismissed three years before as being too clever for me, turning instead to general surgery when I was offered a place on the training programme. This three-year detour did feel a touch slow, however, the beauty of genetic pathology is that everyone has their own story, their own journey, which makes for a combined wealth of experience and knowledge.

“Genetics has rapidly become the basis of almost every disorder, even though we don't fully understand it just yet. It wasn't that long ago that we could only diagnose genetic disorders by phenotype and symptoms - now we can look at a person's entire genetic code and find that single error underlying their condition, even without knowing beforehand what we are looking for, and in a matter of days! It's really quite incredible. It’s also not just in diagnosing conditions, but also in deciding appropriate treatment, monitoring response, providing families with reproductive risk information and so much more. Genetic pathology can impact all life stages - from a five-day old blastocyst undergoing genetic screening to see if it will become a viable embryo, to an older woman with cancer who is undergoing testing to see if she is expected to be responsive to a particular drug. It's constantly changing and improving, and certainly keeps you on your toes!

“In terms of training, once you complete medical school, you spend at least two years as a house officer in order to get a broad working view of the various medical and surgical specialties. You can then become a registrar (a more specialised doctor, training in your field of interest). Interestingly, most of us genetic pathologists started out life in other specialties - paediatrics, obstetrics and gynaecology, general medicine, general surgery, even general practice before seeing the light. I think our backgrounds in these areas help shape our practice and our ability to interpret complex data in a manner that is relevant to our colleagues.

“Five years is spent training in genetic pathology, and at least one of those years needs to be spent in a different lab. This is not much of a problem in cities such as Sydney, as there are multiple labs to train at. However, in places like New Zealand, where there are only two genetic labs in the country to train, or in Perth and Adelaide where there is only a single genetic lab, this is a big deal. It means uprooting family and life to start anew in a different place! I moved from Christchurch to Sydney for 15 months with my husband and dog, leaving his two teenage boys behind with their mother as they were settled at school. My husband flew back every month for a week each time, and the boys had the opportunity to come over in school holidays. It was an unusual time, but well-worth the experience gained. I got to analyse big genomic data (whole exome data), which I didn't have access to in Christchurch, and was able to bring back to New Zealand the knowledge and skills I gained when I came back as a brand new pathologist.

“Training in genetic pathology involves learning about a lot of things that they don't teach you anywhere else, not in medical school or on the wards. You first of all learn the various genetic tests and assays that your lab offers - how to perform them, why they are used, how to interpret results, how to write intelligent reports - gaining a good grounding in techniques and the underlying biology of the disorders. You learn how to ensure quality of the test and result, how to think about whether or not a test has any clinical utility, how to answer the clinical question posed, and what the ethical implications are for the testing we do. You learn how to decode 'genetics-speak' for other clinicians, how to educate and advise other clinicians, how to manage your scientists, how to provide direction. You learn that it takes a team to do this job well. And although you never see patients, they are always at the forefront of what you do, and the reason why we strive to do it right.

“What I find exciting about the future of genetic pathology is the endless possibilities of genomic technology, however this must be coupled with responsibility and accountability for all those using it, especially in the diagnostic setting. Whole exome sequencing in a child today could be used in a fetus tomorrow, and in fetal DNA floating in mum's blood next week. Technology is constantly pushing the boundaries of what is possible, and it is up to us to help shape and regulate what is acceptable. It is also becoming increasingly clear that we can't (and shouldn't!) do this alone. Working together across different centres, sharing data, resources and skills is the only way we will be able to advance knowledge in this field. I’m also excited that perhaps someday, there might be more than two genetic pathologists here in NZ, and that we might have our own job category in the Medical Council's list of professions (instead of being Pathologist>Other)!

“I think all of medicine is important, and that we can't do anything without each other. However, I do think the value of pathology is under-recognised, simply because we are not the face the public sees - or even the face that the other clinicians see! And yet, how often do we rely on pathology to help rule in or rule out a diagnosis? Pathology is not that thing that they do in that building over there, taking blood, feeding it into a machine, and pulling out a bit of paper with the result... it is the very core of what we do in medicine. Medicine IS pathology, and we'd be pretty useless without it!”

For information regarding vacancies or when training positions will become available, please contact geneticpathologytraining@gmail.com






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