A/Prof Sue White is a Clinical Geneticist at Victorian Clinical Genetics Services (VCGS)

Tell us about your work

I work as a clinical geneticist at VCGS. My job involves trying to diagnose children with suspected genetic conditions. Sometimes, the diagnosis is very clear from the pattern of problems they have, but often it is not. This is where genomics has revolutionised our work. Our genomics research has demonstrated that in children with undiagnosed syndromes, genomic sequencing brings us five times more diagnoses at one third of the cost of traditional diagnostic tests. In our genomic sequencing project in undiagnosed children, more than half received a diagnosis from genomic sequencing. Within VCGS, we have a talented and passionate team of clinical geneticists, genetic counsellors, scientists and bio-informaticians building an innovative, skilled clinical exome service that provides answers for clinicians and families.

What are you hoping to achieve through the work that you're doing/what is your ideal goal?

My first goal is that every undiagnosed child with a suspected genetic condition has equitable and timely access to genomic testing. Currently the test is not routinely funded in clinical care. We have worked to address this by our work in Childhood Syndromes with the Melbourne Genomics Health Alliance.

The publicity around this work helped to attract more genomics funding in 2017, which will allow us to provide genomic testing to more families who need it.

Providing genomic tests leads to answers, and sometimes these answers lead to a change in treatment. Genetic conditions are not curable, but having the exact diagnosis meant a change in care for a quarter of diagnosed patients in our genomics program. This means we can deliver personalised care to children with rare genetic conditions.

How many people are potentially impacted by your work?

The conditions we deal with are very rare, but collectively, rare conditions affect one in 12 Australians. Many of them affect children, and many of them are undiagnosed. Children with genetic conditions comprise the majority of inpatients in paediatric hospitals.  By using genomic sequencing early in the diagnostic pathway, we now can avoid invasive tests in some of the undiagnosed children we see, saving them and the health system from using an invasive procedure.

What is the biggest achievement of your career?

The biggest achievement of my career has been to work with a team that led the implementation of clinical genomics on the Melbourne Children's campus.

It is a big challenge to change the health care system and convince funders that this new technology should be funded. The compelling evidence from our research and the impact of individual stories of how the test changed patient lives has directly led to better funding and test availability and I am incredibly excited by this.

I also love being part of an aligned clinical genomics team comprising talented people passionate about making this challenging technology work for our patients.

What do you love about working at MCRI and VCGS?

I love the opportunities I have as a clinician to make the lives of my patients better, by being involved in cutting-edge research. I love the dynamic, can-do attitude of the people I work with.

What makes you passionate about child health?

I care very much about children whose lives are different because they have a genetic condition. There is a lot we can do to help them and their families live the best life possible and we are going a long way to achieve this through our research.

Tell us an interesting fact about yourself

I have an appallingly bad sense of direction which means I get lost, all the time! My daughter seems to have inherited this trait and there are several other affected family members and I am disappointed that no one has identified the causative gene as yet. But if a gene discovery group is looking for a good family to study, we are available.

What do you like doing when you're not working?

In my spare time, I write fiction, usually between 5.30 and 6.30 in the morning. I find this a fantastic outlet and a great contrast to my medical work. My unpublished novel, Cut, was recently shortlisted for the 'Kill Your Darlings' unpublished manuscript award.