Project Details
Description
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.
• 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 |
|---|---|
| Status | Finished |
| Effective start/end date | 30/06/20 → 1/07/23 |