The <scp>PreGen</scp> Research Program: Implementing Prenatal Genomic Testing in Australia—A Commentary
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.
Authors
- Holly E. Evans (ORCID: https://orcid.org/0000-0002-0496-7329)
- Jon Anthony Hyett (ORCID: https://orcid.org/0000-0001-8019-1289)
- Alyssa M. Wilson (ORCID: https://orcid.org/0000-0002-3822-5200)
- Sebastian Lunke (ORCID: https://orcid.org/0000-0002-7168-0723)
- Claire Elizabeth Wakefield (ORCID: https://orcid.org/0000-0001-7704-7067)
- Tony Roscioli (ORCID: https://orcid.org/0000-0003-1502-5000)
- Hamish S. Scott (ORCID: https://orcid.org/0000-0002-5813-631X)
- Natalie Hart
- Rebecca Vink
- Meaghan Wall (ORCID: https://orcid.org/0000-0001-9711-0705)
- DEBORAH J. SCHOFIELD (ORCID: https://orcid.org/0000-0002-1658-494X)
- Lauren Kelada (ORCID: https://orcid.org/0000-0001-9428-8807)
- George McGillivray (ORCID: https://orcid.org/0000-0002-3878-9057)
- Sarah S. Long (ORCID: https://orcid.org/0000-0002-8187-1726)
- Kate Ross (ORCID: https://orcid.org/0000-0002-8223-9546)
- Michael F. Buckley
- Gemma Fernihough (ORCID: https://orcid.org/0009-0000-4383-3756)
- Josh Kraindler
Institutions
- South Australia Pathology (AU)
- Royal Women's Hospital (AU)
- UNSW Sydney (AU)
- Prince of Wales Hospital (AU)
- Victorian Clinical Genetics Services (AU)
- Sydney Children's Hospital (AU)
- Sydney Local Health District (AU)
- Centre for Cancer Biology (AU)
- Murdoch Children's Research Institute (AU)
- South Western Sydney Local Health District (AU)
- Western Sydney University (AU)
- Neuroscience Research Australia (AU)
- Macquarie University (AU)
Publication Details
- Journal
- Australian and New Zealand Journal of Obstetrics and Gynaecology
- Published
- 2025-03-24
- DOI
- https://doi.org/10.1111/ajo.13936
- Citations
- 2
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 6.99
Funders
- Australian Government