newborn sleeping

A new program to improve health outcomes for babies and their families using a heel prick test.

Murdoch Children’s Research Institute, in partnership with GenV, the University of Melbourne, University of Adelaide, University of Technology Sydney, Hunter Genetics and Monash University, will oversee the Epi-Genomic Newborn screening (EpiGNs) program from 2022 to 2027.

Murdoch Children’s Research Institute, in partnership with GenV, the University of Melbourne, University of Adelaide, University of Technology Sydney, Hunter Genetics and Monash University, will oversee the Epi-Genomic Newborn screening (EpiGNs)...

Murdoch Children’s Research Institute, in partnership with GenV, the University of Melbourne, University of Adelaide, University of Technology Sydney, Hunter Genetics and Monash University, will oversee the Epi-Genomic Newborn screening (EpiGNs) program from 2022 to 2027.

EpiGNs will examine if a number of conditions linked to intellectual disability, autism, severe obesity and seizures can be identified as part of the heel prick test performed in the first year of life of 100,000 Victorian infants.

Detecting these conditions from birth can lead to life-altering effective treatment and care pathways, which are not possible without early diagnosis.

In addition to the conditions currently detectable by the heel prick test in newborns, such as cystic fibrosis and hypothyroidism, the EpiGNs program will use a new approach to identify changes in the activity of genes. This will help us to detect developmental conditions including Fragile X, Prader Willi, Angelman, Dup15q, Turner, XXY, XXXY and XXYY syndromes.

Except for Prader Willi syndrome, most of these conditions don’t typically show physical signs at birth. That means early detection can prevent delayed diagnosis, lower medical expenses, and reduce stress and anxiety for families.

Finding Fragile X syndrome early is also crucial. It not only helps the affected infants by providing early access to treatments, but also their mothers, who will be at high risk of having more affected pregnancies before the first newborn is diagnosed. Typically, children with Fragile X are diagnosed after they turn three years old. By that time the family may have more affected children, which can be avoided through opportunities for informed pregnancy choices.

Prader Willi and Turner syndromes can be treated effectively from infancy and there are clinical trials for gene therapy for Angelman syndrome.

Current medical treatments may also help with serious underlying conditions like intellectual disability, autism and obesity that can occur with these disorders. However, more data on the real-time costs and effectiveness of the EpiGNs program is needed for these conditions to be included in the newborn screening programs using the heel prick test.

Associate Professor David Godler, who is leading the project at Murdoch Children’s Research Institute, said that collaborating with GenV would allow the team to establish a real-life screening framework to estimate how often these developmental conditions occur. Through this, we can also compare the cost-effectiveness of including these conditions to current diagnostic approaches.


MCRI Associate Professor David Godler speaks with 7NEWS Australia about a world-first test that picks up on the early stages of Prader Willi, Angelman and Dup15q syndromes.

Resources