Publications

Main study results

Evidence is building for genomic newborn screening
This research briefing is a summary of: Lunke, S. et al. Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study. Nat Med (2025).
Nature Medicine  |  October 2025

Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study
Sebastian Lunke, Lilian Downie, Jade Caruana, Nathasha Kugenthiran, Paul De Fazio, Sebastian Hollizeck, Sophie E. Bouffler, David J. Amor, Alison D. Archibald, Yvonne Bombard, John Christodoulou, Marc Clausen, Wendy Fagan, Clara Gaff, Ronda F. Greaves, Christopher Gyngell, Anaita Kanga-Parabia, Nitzan Lang, Crystle Lee, Fiona Lynch, Anthony Marty, Melanie Marty, Candice McGregor, Jessica Riseley, Simon Sadedin, Katrina Scarff, Michelle da Cunha Torres, Erin Tutty, Ching Vang, Meaghan Wall, Ee Ming Wong, Alison Yeung, Ilias Goranitis, Stephanie Best, Danya F. Vears and Zornitza Stark
Nature Medicine  |  October 2025

Other publications

Parental experiences of receiving genomic newborn screening results: findings from the BabyScreen+ study
Erin Tutty, Anaita Kanga-Parabia, Nathasha Kugenthiran, Jade Caruana, Lilian Downie, Clara Gaff, Nitzan Lang, Sebastian Lunke, Katrina Scarff, Zornitza Stark, Stephanie Best and Alison D. Archibald
European Journal of Human Genetics |  February 2026

Supporting decisions about genomic newborn screening at scale in the digital age: the BabyScreen+ study
Lilian Downie, Jade Caruana, Nathasha Kugenthiran, Anaita Kanga-Parabia, Erin Tutty, Yvonne Bombard, Marc Clausen, Sophie Bouffler, Clara Gaff, Alison D. Archibald, Sebastian Lunke and Zornitza Stark
npj Genomic Medicine  |  February 2026

Genomic newborn screening: Commodity or public good?
Christopher Gyngell, Sebastian Lunke, Danya Vears and Zornitza Stark 
The Medical Journal of Australia  |  January 2026

Genomic Screening Consortium for Australian Newborns (GenSCAN)
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, and Zornitza Stark
Journal of Paediatrics and Child Health  |  July 2025

Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia
Riccarda Peters, Stephanie Best, Fiona Lynch, Danya F. Vears, Lilian Downie, Alison D. Archibald, Sebastian Lunke, Zornitza Stark and Ilias Goranitis
American Journal of Human Genetics  |  May 2025

Key informant perspectives on implementing genomic newborn screening: a qualitative study guided by the Action, Actor, Context, Target, Time framework
Erin Tutty, Alison D. Archibald, Lilian Downie, Clara Gaff, Sebastian Lunke, Danya F. Vears, Zornitza Stark and Stephanie Best
European Journal of Human Genetics  |  June 2024

Exploring the benefits, harms and costs of genomic newborn screening for rare diseases
Emma L. Baple, Richard H. Scott, Siddharth Banka, James Buchanan, Louise Fish, Sarah Wynn, Dominic Wilkinson, Sian Ellard, Daniel G. MacArthur and Zornitza Stark
Nature Medicine  |  June 2024

Australian public perspectives on genomic newborn screening: which conditions should be included?
Fiona Lynch, Stephanie Best, Clara Gaff, Lilian Downie, Alison D. Archibald, Christopher Gyngell, Ilias Goranitis, Riccarda Peters, Julian Savulescu, Sebastian Lunke, Zornitza Stark and Danya F. Vears
Human Genomics  |  May 2024

Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol
Sebastian Lunke, Sophie E. Bouffler, Lilian Downie, Jade Caruana, David J. Amor, Alison Archibald, Yvonne Bombard, John Christodoulou, Marc Clausen, Paul De Fazio, Ronda F. Greaves, Sebastian Hollizeck, Anaita Kanga-Parabia, Nitzan Lang, Fiona Lynch, Riccarda Peters, Simon Sadedin, Erin Tutty, Stefanie Eggers, Crystle Lee, Meaghan Wall, Alison Yeung, Clara Gaff, Christopher Gyngell, Danya F. Vears, Stephanie Best, Ilias Goranitis and Zornitza Stark
BMJ Open  |  April 2024

Gene selection for genomic newborn screening: Moving toward consensus?
Lilian Downie, Sophie E. Bouffler, David J. Amor, John Christodoulou, Alison Yeung, Ari E. Horton, Ivan Macciocca, Alison D. Archibald, Meghan Wall, Jade Caruana, Sebastian Lunke and Zornitza Stark
Genetics in Medicine  |  January 2024

Australian public perspectives on genomic newborn screening: risks, benefits, and preferences for implementation
Fiona Lynch, Stephanie Best, Clara Gaff, Lilian Downie, Alison D. Archibald, Christopher Gyngell, Ilias Goranitis, Riccarda Peters, Julian Savulescu, Sebastian Lunke, Zornitza Stark and Danya F. Vears
International Journal of Neonatal Screening  |  January 2024

Are we ready for whole population genomic sequencing of asymptomatic newborns?
Danya F. Vears, Julian Savulescu, John Christodoulou, Meaghan Wall and Ainsley J Newson
Pharmacogenomics and Personalized Medicine  |  July 2023

Genomic newborn screening for rare diseases
Zornitza Stark and Richard Scott
Nature Reviews Genetics  |  June 2023

Storing paediatric genomic data for sequential interrogation across the lifespan
Christopher Gyngell, Fiona Lynch, Danya F. Vears, Hilary Bowman-Smart, Julian Savulescu and John Christodoulou
Journal of Medical Ethics  |  June 2023