Genetic pathology is a specialised branch of pathology that focuses on the role of genetic variants in disease monitoring, diagnosis, and treatment. Through advanced techniques like DNA and RNA analysis, genetic pathologists are able to identify genetic changes that may predispose individuals to certain cancers, rare diseases, and other inherited disorders. This field plays a crucial role in personalised medicine, providing insights that help tailor treatments based on a patient’s unique genetic profile, improving outcomes and advancing preventive care.
Dr Melanie Galea is a genetic pathologist and an ambassador for Pathology Awareness Australia (PAA). We asked Dr. Galea about her experience as a genetic pathologist and her advice for those considering a career in this exciting field.
What inspired you to pursue a career in genetic pathology?
The field of genetics and the molecular basis of disease has always fascinated me. In my undergraduate medical science studies, I majored in and completed an Honours project in molecular genetics. I followed this up working as a laboratory scientist in the field of genetic cancer research, but I wanted to make more of a direct positive impact on the healthcare of individuals. So, I returned to postgraduate medical studies. When I was a medical student and junior doctor, the genetic pathology field was in its infancy and was not very well known. I was fortunate to come across the RCPA Trainee Handbook for Genetic Pathology and was thrilled to find that it encapsulated everything I enjoyed about the practice of medicine. I was hooked and have never looked back!
What does your role entail on a day-to-day basis?
As the clinical director of a laboratory department, I am responsible for providing the medical leadership and clinical governance for the genetic testing performed in my lab. On a day-to-day basis, I work within a multidisciplinary team consisting of fellow genetic pathologists, genetic scientists, genetic counsellors and administration staff who work together to provide high-quality clinical testing. Alongside my genetic pathologist colleagues, I oversee the validation of new tests within the laboratory, liaise with clinician referrers, and work closely with our scientific team to discuss atypical or unexpected results. A core part of our role as pathologists is to review the results from genetic tests to formulate a clinical report based on the referred patient request in line with current best practice. I am also fortunate to play an active role in supervising and training the next generation of pathology and scientific fellows in genetics.
What do you enjoy most about your work?
There are many aspects of genetic pathology that I enjoy. I am grateful to be working in a field that is dynamic, progressive and always changing. Although this can be challenging at times, it keeps the work interesting and is highly motivating. It is also satisfying to be working in a field that matters and can make a positive difference in the lives and health of so many. I enjoy the science and technical nature of the work that it involves- and the fact that by testing an individual you have the ability to impact not only the health of that individual but of their family members as well. Lastly, but importantly, I am fortunate to work with an amazing team of fellow genetic pathologists and scientists who are experts in their fields and are motivated to continually deliver quality patient care.
As an advocate for genetics and pathology, what are some challenges in raising awareness about the importance of these areas?
There can be a tendency to treat genetics as “exceptional” or too complicated, which can act as a barrier to raising awareness. A lot of work has been done in recent years to mainstream genetic testing, moving this out of the exclusive realm of clinical genetics services and into other medical specialty areas (including general practitioners). This movement has helped to demystify this area of pathology and make this more accessible to other clinical groups.
What advice would you give to someone considering a career in genetic pathology?
Reach out and talk to your friendly local genetic pathologist. In my opinion, the best way to discover if this is the right career for you is to speak to pathologists, scientists, and trainees who are working in this discipline and spend time in a clinical genetics laboratory.
Dr Melanie Galea is an ambassador for Pathology Awareness Australia, she is a Genetic Pathologist and the Director of Genetics at Douglass Hanly Moir Pathology.
