BabyScreen+ - Genomic Newborn Screening - Murdoch Children's Research Institute

Project status: Active

Research area: Genomic Medicine > Translational Genomics

Genomic newborn screening for personalised lifelong healthcare in Australian babies

In Victoria, all babies can have standard newborn screening (the ‘heelprick test’). This screens for 25 serious but treatable childhood-onset conditions.

BabyScreen+ is a research study where parents could choose to have their baby’s heelprick sample screened for over 600 additional treatable, childhood-onset conditions. This is called genomic newborn screening.

This study investigated the best way to deliver genomic newborn screening for babies across Victoria.

Visit the BabyScreen+ website

In Victoria, all babies can have standard newborn screening (the ‘heelprick test’). This screens for 25 serious but treatable childhood-onset conditions.

BabyScreen+ is a research study where parents could choose to have their baby’s heelprick...

In Victoria, all babies can have standard newborn screening (the ‘heelprick test’). This screens for 25 serious but treatable childhood-onset conditions.

This study investigated the best way to deliver genomic newborn screening for babies across Victoria.

Visit the BabyScreen+ website

Purpose of study

To determine the feasibility and acceptability of genomic newborn screening in a prospective cohort of 1,000 Victorian babies.

Study details

This state-based project piloted genomic newborn screening in 1,000 Victorian newborns. While standard newborn screening can detect around 25 treatable disorders, using genomic sequencing provided the opportunity to expand to over 600 treatable, early childhood-onset conditions.

The project assessed the feasibility and acceptability of this approach, and performed a comprehensive evaluation of diagnostic performance, clinical utility and cost-effectiveness. It explored the bioethical, psychosocial and implementation challenges raised by a transition to a genome-led approach.

Our study aims were:

To design and implement a genomic newborn screening program to enrol 1,000 Victorian babies.
To evaluate the genomic newborn screening program and compare it with standard newborn screening.
To explore the value and ethical considerations of using genomic data generated at birth as a lifelong healthcare resource.

Which conditions are included in BabyScreen+?

Genomic newborn screening through BabyScreen+ looked for over 600 severe but treatable childhood-onset conditions. 

The list of gene-condition pairs can be found on PanelApp Australia.

Funding & collaborations

BabyScreen+ is funded by a five-year, $3 million grant from the Medical Research Future Fund (MRFF). The grant is part of the Australian Government’s $500 million investment towards genomics research, the Genomics Health Futures Mission.

The study is led by Murdoch Children’s Research Institute and Victorian Clinical Genetics Services (VCGS).

Key researchers

Associate Professor Sebastian Lunke, Genetics & Genomics Innovation, VCGS and Co-Lead of the Translational Genomics group, MCRI
Professor Zornitza Stark, Clinical Geneticist at VCGS and Co-Lead of the Translational Genomics group, MCRI
Dr Lilian Downie, Clinical Geneticist at the VCGS and Genomics Diagnostic Clinician Translational Genomics group, MCRI
Jade Caruana, Senior Project Coordinator, Translational Genomics group, MCRI