The future of healthcare is personalised, and genetic counsellors are at the forefront of this evolution. In honour of the upcoming Genetic Counsellor Awareness Day, we spoke to Anna Jarmolowicz – an associate genetic counsellor who worked on Melbourne Genomics Clinical Flagships, counselling adult and child patients and their families, from 2016 to 2019.
Anna is now working for the Peter MacCallum Cancer Centre and Melbourne IVF.
We asked Anna a few questions about the genetic counselling profession and her experience over the past five years.
What is genetic counselling? Why is it important?
Genetic counselling is the process of supporting individuals and their families through a genetic diagnosis, by providing information and helping people make informed decisions about their healthcare. Receiving a diagnosis can be scary and confusing, and it becomes even more complex when the news may also impact other family members or future children. Genetic counsellors help guide patients through this challenging process.
How did you get into genetic counselling?
I really enjoyed genetics in high school and university, but quickly realised working in a laboratory wasn’t for me! I was looking for a career that involved working with people, and came across an article about genetic counselling. I volunteered at a genetics service and after seeing the positive impact genetic counselling had, I became interested in the area.
Tell us about the time you spent with Melbourne Genomics. What was the experience like?
I provided genetic counselling within several Clinical Flagships, speaking with patients and parents about whole exome sequencing for themselves or their child, and supporting them when the results were disclosed. It was a great experience – especially as a new graduate at the time – to work with many clinicians in different specialties, all so passionate about their field and their patients.
The Clinical Flagships brought new technologies and research findings into the clinic, including options that weren’t readily available before. The Additional Findings and Baby Beyond Hearing Clinical Flagships, for example, provided the option to test for genetic predispositions to health problems beyond patients’ known conditions. This is a service offered by some US laboratories, so it was interesting to be involved in the first Australian studies to see how we could routinely do this in Victoria, and hear patients’ perspectives on it.
What did you learn?
I learnt about the importance of receiving a diagnosis for patients and their families. I often heard stories of people who had been looking for many years for an explanation for their symptoms, or parents wanting to know why their child was born with unexpected health problems.
Prior to Melbourne Genomics providing whole exome sequencing, genomic testing options often did not exist for patients or were difficult to access. Receiving a genomic diagnosis led to better treatment or management options for some patients, but even if it didn’t, many people said they just found it helpful to have that answer. For some, test results have opened up new opportunities to connect with other people in a similar situation (either in Australia or internationally) which has gone a long way to helping them feel less isolated.
I’ve seen why it’s important to advocate for individuals to have access to genomic testing – if available for their condition – as it can make a big impact on their care.
What’s next for you?
I'm excited to be working on the Evaluating Multidisciplinary Bone Marrow Failure Care trial (EMBRACE) with Dr Piers Blombery and Dr Lucy Fox at PeterMac, building upon the work of the Melbourne Genomics Bone Marrow Failure Clinical Flagship.