World-first research to help newborn babies

12 October 2022

South Australian newborn babies and their families will benefit from world-first research thanks to a $3million Medical Research Future Fund (MRFF) grant awarded to SA Pathology, the Women’s and Children’s Hospital (WCH) and The University of Adelaide.

The grant will fund a research on the expansion of South Australia’s life-saving newborn screening, known as the “heel prick” test, which currently identifies a genetic condition in one in 1,000 South Australian babies.

The NewbornsInSA research aims to investigate a world-first in newborn screening using integrated multi-omics, placing South Australia as an international leader in the field. The research will also seek to address gaps in current screening programs and has the potential to deliver the most comprehensive screening approach attempted to date.

The team will be the only one in the country using the combination of untargeted metabolomics and whole-genome sequencing to identify genetic conditions in newborn babies that there are currently no tests for.

This research will examine the feasibility and effectiveness of this new screening approach and if successful, would be a major paradigm shift in newborn care.

Associate Professor Karin Kassahn, chief investigator and project co-lead, and head of technology advancement at SA Pathology says being able to identify more conditions will save many more babies from long-term issues.

“With this new research we will use genomic methods alongside more traditional methods to expand the number of conditions we can screen for, potentially enabling us to identify and treat four times the number of newborns, about 80 babies each year in South Australia,” she said.

Dr Carol Siu, genetic pathologist SA Pathology, says many conditions don’t become obvious in babies until it’s too late, which is why this research will focus on treatable genetic conditions that can lead to serious health problems.

“A lot of genetic conditions affect brain development, and we will be looking for ways to identify these conditions in a timely manner to achieve the best treatment outcome for the children. With this research we will significantly increase the number of genetic disorders we can identify in those first few days of life,” she said.

The team is hoping to have 40,000 South Australian parents and their newborns participate in the research across the next three years.

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