The PreGen Research Program: Implementing Prenatal Genomic Testing in Australia-A Commentary.
Sarah Long, Deborah Schofield, Josh Kraindler, Rebecca Vink, Kate Ross, Natalie Hart, Holly Evans, Alyssa Wilson, Jon Hyett, Claire E Wakefield, Lauren Kelada, Hamish Scott, Sebastian Lunke, Meaghan Wall, Michael F Buckley, Gemma Fernihough, George McGillivray, Tony Roscioli
Author Information
Sarah Long: Neuroscience Research Australia (NeuRA), Sydney, New South Wales, Australia.
Deborah Schofield: GenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, New South Wales, Australia.
Josh Kraindler: GenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, New South Wales, Australia.
Rebecca Vink: Neuroscience Research Australia (NeuRA), Sydney, New South Wales, Australia.
Kate Ross: Genetics and Molecular Pathology, Centre of Cancer Biology, South Australia Pathology, Adelaide, South Australia, Australia.
Natalie Hart: GenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, New South Wales, Australia.
Holly Evans: Behavioural Sciences Unit, Kids Cancer Centre, Sydney Children's Hospital, Randwick, New South Wales, Australia.
Alyssa Wilson: Neuroscience Research Australia (NeuRA), Sydney, New South Wales, Australia.
Jon Hyett: Feto-Maternal Unit, South Western Sydney Local Health District, Sydney, New South Wales, Australia.
Claire E Wakefield: Behavioural Sciences Unit, Kids Cancer Centre, Sydney Children's Hospital, Randwick, New South Wales, Australia.
Lauren Kelada: Behavioural Sciences Unit, Kids Cancer Centre, Sydney Children's Hospital, Randwick, New South Wales, Australia.
Hamish Scott: Genetics and Molecular Pathology, Centre of Cancer Biology, South Australia Pathology, Adelaide, South Australia, Australia.
Sebastian Lunke: Royal Women's Hospital and Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Meaghan Wall: Royal Women's Hospital and Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Michael F Buckley: New South Wales Health Pathology Genomics, Prince of Wales Hospital, Randwick, New South Wales, Australia.
Gemma Fernihough: Neuroscience Research Australia (NeuRA), Sydney, New South Wales, Australia. ORCID
George McGillivray: Royal Women's Hospital and Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Tony Roscioli: Neuroscience Research Australia (NeuRA), Sydney, New South Wales, Australia.
Prenatal genomic sequencing, which can provide a significantly increased diagnostic rate for fetal structural anomaly (FSA) compared with karyotype and microarray, is not available uniformly across Australia. PreGen, a 5-year translational research program, has identified significant barriers to implementation including access to funding, the availability of genomic testing, access to termination of pregnancy services and the availability of specialist genomic centres. A federal item number for prenatal genomic testing would increase equitable test availability and reduce delays to diagnoses by making them in pregnancy whilst removing the need for low-yield diagnostic interventions and enabling personalised patient management and family support.
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