Research project to help elevate newborn bloodspot screening

A new research project to enhance newborn screening is set to help new and emerging treatment therapies be available to children as early as possible by using genome sequencing to screen for a range of treatment-ready genetic conditions.

The project, called NEWBORN GEN SEQ TRAIL (Newborn Genomic Sequencing in screening: Therapy Ready And Information for Life), will be undertaken by researchers from Sydney Children’s Hospital Network (SCHN), the University of Sydney, NSW Health Pathology and the CSIRO and was made possible thanks to a $3 million grant from the Australian Government’s Medical Research Future Fund (MRFF).

The project will aim to build on the recent success of screening for Spinal Muscular Atrophy (SMA), with treatment for SMA now available within days rather than years, dramatically altering the course of a child’s life.

Project lead and Head of Molecular Genetics at SCHN, Clinical Professor Bruce Bennetts, said the project would open the door to screen for hundreds of genetic conditions as matching treatments become available.

“The success in screening for, and offering a treatment for, SMA has really set the pattern for what we are going to be able to achieve in the future, and we know we have the technology to do it,” Clinical Professor Bennetts said.

“What we have to do now is find a way to do that at scale so we aren’t adding conditions one at a time and can offer a family a diagnosis and treatment as soon as it is available.”

“We want to be ready for the next life-saving treatment.”

The project will use advances in genetic technology to investigate early onset childhood conditions that will have a beneficial outcome from early intervention and therapy.

It has already been shown through the Acute Care study that rapid genomic testing for critically ill children reduces the length of time to diagnosis.

Leveraging this success, the TRAIL study will aim to show how having early access to a child’s stored genomic information could reduce the length of time to diagnosis even further, giving families answers and allowing early access to treatments, if they are available.

“We are specifically focused on identifying those conditions that have treatments available so we can intervene as quickly as possible and avoid some of the devastating effects of these conditions before they occur,” Clinical Professor Bennetts said.

The team will work with other newborn screening grant recipients and the newborn screening programs in other states to inform the future needs of Australia’s newborn screening programs. This will create a national approach with equitable access to newborn screening in every state and territory.

“NSW newborn screening has had a long history of being innovative and being at the forefront of new developments, and we want to continue this proud tradition and ensure these developments are available to everyone around the country,” Clinical Professor Bennetts said.

While the addition of any new conditions to the Newborn Bloodspot Screening program may still be several years off, Clinical Professor Bennetts says the MRFF grant is the start of a very exciting future.

“I really think this is going to be one of the big health innovations of the 21st century,” Clinical Professor Bennetts said.

We have the opportunity to change the way things are done and ultimately give children with genetic disease access to therapies before any damage occurs. It will be life-changing.”

The project is expected to commence in 2023.