Year: 2025
Type: article
Abstract: BACKGROUND: Using genomic sequencing technology at population scale as a screening test holds the promise of improving outcomes for individuals with rare diseases through early detection and timely access to precision medicine. However, the incorporation of genomics into established newborn screening programmes raises many challenges, ranging from technical feasibility and scalability through to ethical concerns regarding consent and data management. Empirical evidence and implementation experience from large-scale studies are required to guide future policy. METHODS: We provide a narrative summary of genomic newborn screening studies currently underway in Australia. FINDINGS: We summarise six research studies currently underway in Australia, which explore the application of genomic technologies in the newborn screening context. These studies have taken varying approaches to generating evidence about the implementation of genomic newborn screening and have formed a national consortium, the Genomic Screening Consortium for Australian Newborns (GenSCAN), with the aim of sharing experiences and enabling collective learning. CONCLUSIONS: Over the next decade, we can expect substantial evidence to be generated nationally and internationally to inform future policy decisions on whether to incorporate genomic sequencing into newborn screening programmes.
DOI: 10.1111/jpc.70131
Authors: Natalie Taylor, Michelle Pirreca, Bruce Bennetts, Gladys Ho, Kirsten Boggs, Karin S. Kassahn, Lucy Anastasi, David Eugeny Godler, Mohammed Alshawsh, Sarah Norris, Joanne Scarfe, Tiffany Boughtwood, Gareth Baynam, Belinda Burns, Enzo Ranieri, Jade Caruana, Sebastian Lunke, Stephanie Best, Zornitza Stark
Institutions: UNSW Sydney, Children's Hospital at Westmead, Sydney Children’s Hospitals Network, Australian Genomics Health Alliance, The University of Sydney, South Australia Pathology, The University of Adelaide, The University of Melbourne, Murdoch Children's Research Institute, Monash University, Princess Margaret Hospital for Children, King Edward Memorial Hospital, Perth Children's Hospital, Government of Western Australia Department of Health, Victorian Clinical Genetics Services
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
Estimated APC paid: $4,150
Award: G1070053657
OpenAlex ID: W4412047840