About BabyScreen+

In Victoria, all babies can have standard newborn screening (the ‘heel prick test’), which looks for around 25 health conditions that can cause newborns to become severely unwell if not treated urgently. This screening enables early diagnosis and treatment, providing the best health outcomes for babies. Newborn screening is funded by the Victorian Department of Health and offered free to all babies in Victoria.

BabyScreen+ is a research study investigating the use of genomic testing as an add-on to standard newborn screening. This will increase the number of treatable, childhood-onset conditions that can be detected from around 25 to over 500. The study will provide genomic newborn screening to 1000 Victorian babies, alongside standard newborn screening.

The study will assess the best way to deliver genomic newborn screening in Victoria, and determine how Australian parents, healthcare professionals, and the general public feel about this type of screening.

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 The Murdoch Children’s Research Institute and Victorian Clinical Genetics Services.

Study aims

  1. Design and implement a genomic newborn screening program which will enrol 1,000 Victorian babies
  2. Evaluate the genomic newborn screening program and compare it with standard newborn screening
  3. Explore the value and ethical considerations of using genomic data generated at birth as a lifelong healthcare resource

The BabyScreen+ research study will also evaluate:

  • Whether it's feasible to deliver genomic newborn screening at population scale
  • Attitudes towards this screening among Australian parents, healthcare professionals and the general public
  • How early diagnosis of health conditions through genomic newborn screening impacts health outcomes
  • Cost-effectiveness
  • The experiences of families who have genomic newborn screening for their babies
  • Ethical considerations
  • Factors that support successful implementation of genomic newborn screening into the healthcare system

Proudly in partnership with

BabyScreen+ is funded by the Australian Government’s Medical Research Future Fund as part of the Genomics Health Futures Mission, grant number MRF2015937.