BabyScreen+: Genomic Newborn Screening
- Project status: Active
Research area: Genomic Medicine > Diagnosis and Development
BabyScreen+ research study
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 can choose to have their baby’s heelprick sample screened for over 500 additional treatable, childhood-onset conditions. This is called genomic newborn screening.
This study is investigating the best way to deliver genomic newborn screening for babies across Victoria.
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 can 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.
BabyScreen+ is a research study where parents can choose to have their baby’s heelprick sample screened for over 500 additional treatable, childhood-onset conditions. This is called genomic newborn screening.
This study is investigating the best way to deliver genomic newborn screening for babies across Victoria.
About the study
This state-based project will pilot genomic newborn screening in 1,000 Victorian newborns. While standard newborn screening can detect around 25 treatable disorders, using genomic sequencing provides the opportunity to expand to over 500 treatable, early childhood-onset conditions.
The project will assess the feasibility and acceptability of this approach, and perform a comprehensive evaluation of diagnostic performance, clinical utility and cost-effectiveness. It will explore the bioethical, psychosocial and implementation challenges raised by a transition to a genome-led approach.
Our study aims
- Design and implement a genomic newborn screening program to enrol 1,000 Victorian babies.
- Evaluate the genomic newborn screening program and compare it with standard newborn screening.
- Explore the value and ethical considerations of using genomic data generated at birth as a lifelong healthcare resource.
Conditions included in BabyScreen+?
Genomic newborn screening through BabyScreen+ looks for over 500 severe but treatable childhood-onset conditions.
Visit the BabyScreen+ website to see a list of genes and conditions screened in the study.
Information for participants
Who can participate?
You can enrol in the study if you have received a BabyScreen+ study invitation card.
To enrol you must:
- Be aged 16 years or over
- Be pregnant
- Be planning to give birth in Victoria
- Be the birth parent (the person who is giving birth to the baby)
- Have your unique study ID; this is printed on your study invitation card
For more information and to enrol in this study, please visit the BabyScreen+ website.
Funding
BabyScreen+ is funded by a five-year, $3 million grant from the Medical Research Future Fund. 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.
Contact us
BabyScreen+ Study
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