A/ProfErin Turbitt

Dr Erin Turbitt is an Associate Professor in Genetic Counselling at UTS and a social scientist whose research sits at the intersection of genomic medicine, decision making and ethics. Her work focuses on improving healthcare for families of children with genetic and neurodevelopmental conditions by understanding parental experiences and supporting informed decision making.

Dr Turbitt became interested in the impact that fast-emerging technologies were having on patients and their families after her early work in molecular biology laboratories.

"As scientists, we were finding the results from these new technologies really difficult to understand, so it made me question how this was being handled by clinicians, patients and families”

In her current research, Dr Turbitt has been talking to parents of a child with a genetic neurodevelopmental condition about their experiences. She focuses on a condition called Fragile X syndrome, which is the most common inherited form of intellectual disability. This condition starts in childhood, and it can affect an individual’s cognitive abilities and behaviour. Many children with Fragile X have been diagnosed with autism.

“Talking to these parents, I found that some have challenging experiences with the healthcare system and that can have a significant psychological impact on families,” she said.

“The findings from my work indicate change is needed, particularly in terms of support available for parents.”

Advances in genetic research allow more accurate predictions on a child’s future – such as their likely IQ, or behavioural challenges – but this comes with ethical issues, and questions about how much parents want or need to know. Erin’s work promotes co-designed research and strategies to ensure families receive balanced, meaningful information at the time of diagnosis, supporting equitable access to genomic medicine.

“Equal access to these new advances in genomics is crucial so families can benefit no matter their background and circumstances,” Dr Turbitt says.

As well as research, she is an integral part of the academic teaching team, bringing her genomics and research expertise to the Masters in Genetic Counselling program. This is a relatively new field where there is still much work to be done to build an evidence base to guide best practice, ultimately enabling society to benefit from genetic advances. Dr Turbitt is passionate about helping her students develop critical thinking skills and appreciate the impact that research has on delivering high-quality genomic medicine.

Before working at the University of Technology Sydney, Dr. Turbitt was a Postdoctoral Research Fellow at the National Human Genome Research Institute in Bethesda, USA. She was awarded her PhD from the University of Melbourne in 2014 while based at the Murdoch Children’s Research Institute.