A research project that will examine the feasibility of genomic testing has received $4.9 million in funding from the Australian Government Medical Research Futures Fund (MRFF).
The two-year project, PreGen, will be led by Associate Professor Tony Roscioli from UNSW Medicine, who is an expert in genomics at Neuroscience Research Australia (NeuRA) and New South Wales Health Pathology.
The funding received will allow PreGen to perform genomic tests in families seen at ten of Australia’s largest maternity centres. This will assess the benefits made available from antenatal genomic testing.
“We do not currently have easily accessible accredited antenatal genomic testing in Australia. Pregnancy abnormalities identified on ultrasound are therefore not usually investigated further with genomic testing to try to find the cause,” A/Prof. Roscioli said.
The grant will help to improve knowledge about the conditions causing malformations, improve available testing and promote international collaborations to understand the genetic conditions that may occur in babies.
Prenatal genomic testing allows the cause of some abnormalities to be identified. This information helps families consider available options and could allow clinicians to better manage a baby’s health after the birth.
“There is huge demand for this technology from families and doctors,” A/Prof. Roscioli said.
The project will also create training positions to build the workforce required to perform and analyse the results quickly. Further, PreGen will evaluate the psychological support families may require when undergoing genomic testing.
“The priorities will be to set up antenatal genomic testing safely around Australia and to expand knowledge about genetic conditions in babies. We will evaluate the counselling that is required to support families appropriately,” he said.
UNSW Deputy Vice-Chancellor (Research) Professor Nicholas Fisk, in noting that this grant represented a quantum leap for prenatal genetics, said that rolling out exome and genome sequencing was exactly the sort of translation the MRFF was designed for.
Prof. Fisk, a former President of the International Fetal Medicine Society, said: “Fetal abnormalities occur in up to one in 20 pregnancies - this exemplary hi-tech model of care will help parents and their clinicians understand whether imaging findings are just isolated or part of more complex disorders.”
PreGen will compliment a related multicentre MRFF grant, Mackenzie’s Mission, also run out of the Randwick Health Precinct, attesting to UNSW’s national leadership in this area.