Implementation of Evidence-based Genomic Medicine in Pregnancy through the Translational PreGen Consortium

  • Roscioli, Tony (Chief Investigator)
  • Meldrum, Cliff (Chief Investigator)
  • Buckley , Michael (Chief Investigator)
  • McGillivray, George (Chief Investigator)
  • Lunke, Sebastian (Chief Investigator)
  • Colley, Alison (Chief Investigator)
  • North, Kathryn (Chief Investigator)
  • Schofield, Deborah (Primary Chief Investigator)
  • Hyett, Jon (Chief Investigator)
  • Smoleniec, John (Chief Investigator)
  • Worsley, Heidi (Project Co-ordinator)

Project: Research

Project Details


The primary aims of this project are to determine a model of care for genomic precision medicine in Australia to shift diagnosis for critically ill neonates into fetal life by
• Establishing an international collaborative network of expertise in prenatal genomics to sustain skilled and future-proofed jobs
• Providing the infrastructure to accredit prenatal genomic testing in Australia by creating strong research-industry collaboration
• Determining the costs savings for pre- and postnatal life when genomic testing is performed prenatally
• Joining international collaborators in USA consortia to maintain global leadership in genomics

Fetal structural anomalies (FSA) affect 3-5% of pregnancies, accounting for 20-33% of perinatal mortality. Prenatal genomic testing of monogenic disorders has however lagged behind the prenatal detection of chromosomal imbalances and the aetiology of more than 70% of cases of multiple fetal abnormalities remain undiagnosed. The PreGen consortium (“PreGen”) will ensure that safe, effective and rapid prenatal genomic testing will be developed as a standard of care (SoC) and that a searchable global genotype/phenotype database will be initiated in association with international groups.
Short title Translational PreGen Consortium
Effective start/end date30/06/201/07/23