Research
Open access CC BY NC ND
Volume 224 - Issue 4
Genomic Newborn Screening: Verdict From an Australian Citizens’ Jury
Authors: Yves Saint James Aquino, Joanne Scarfe, Diana Popic, Lucy Carolan, Chris Degeling, Kathleen Prokopovich, Margaret F. A. Otlowski, Saniya Singh, Belinda Fabrianesi, Kaustuv Bhattacharya, Kristi Jones, Ainsley J. Newson, Patti Shih, Bruce Bennetts, Emma Frost, Zornitza L. Stark, Kristen Nowak, Louise Healy, Sarah Norris, Stacy M. Carter
Correspondence: stacyc@uow.edu.au
Med J Aust 2026 || doi: 10.5694/mja2.70184
Published online: 10 April 2026
Published online: 10 April 2026
Abstract
Objective
To support a nationally representative group of Australians to make informed, reasoned recommendations on the use of genomics in newborn screening programmes.
Design
Hybrid Citizens’ Jury method.
Setting, Participants
Thirty Australian adults recruited by random ballot invitation and stratified selection against population-based demographic targets of age, sex, ancestry, highest level of education, location of residence (state/territory, urban/non-urban), experience of disability and parent/non-parent.
Main Outcome Measures
Jury recommendations with reasons.
Results
The jury made 11 recommendations. The jury agreed whole genome sequencing could be used in the programme, but only if conditions were met regarding national consistency, benefit, Australian Government oversight, consent, reporting to parents, data protection, supporting parents and the healthcare system, and parent and public education. All of these conditions were agreed by consensus, except reporting to parents and parent and public education, where there was a supermajority (24/30) in agreement and minority dissent. The jury were split on Recommendation 11: how much genomic data should be extracted and retained. Nine jurors supported whole genome sequencing only if data extraction and retention were limited to interpretable, actionable genetic information; 21 jurors supported a more expansive approach.
Conclusions
To maintain public trust in Australian newborn screening, programmes should take a more conservative approach to data extraction and storage until concerns are addressed and safeguarding conditions implemented. Jurors' key concerns include identifiability of genomic data, risk of data misuse and potential to undermine trust and participation in newborn screening.
When ‘Liver Enzymes’ Are Not Hepatic: Late-Onset Pompe Disease
Shauna Madigan, Georgina England, Wayne Rankin
Genomic Testing Access for Hearing Loss Must Catch Up to the Evidence
Emma McGonigal, Andrew V. White, Valerie Sung, Karen Liddle, Lilian Downie, Emily Shepard
Population-Based Melanoma Screening Using Integrated Risk Scores in Australia: A Narrative Review to Determine Readiness
Courtney K. Wallingford, Chloe Mighton, Tamara Dawson, Anne Cust, H. Peter Soyer, Yvonne Bombard, Tatiane Yanes, Aideen McInerney-Leo
Genomic Newborn Screening: Commodity or Public Good?
Christopher Gyngell, Sebastian Lunke, Danya Vears, Zornitza L. Stark
The CURE Asthma roadmap
Gary P Anderson, Anthony Flynn, Phil G Bardin, John D Blakey, Shyamali C Dharmage, Paul Foster, Peter G Gibson, Adam Jaffe, Alan James, Christine R Jenkins, Sundram Sivamalai, Peter D Sly, Guy B Marks, Vanessa M McDonald, Judy Wetttenhall
Australian and New Zealand joint society consensus statement on genetic testing for monogenic diabetes in adults
Sunita MC De Sousa, Timothy ME Davis, James Harraway, Mark Greenslade, Kathy HC Wu, Ryan G Paul, Juliet Taylor, Aleena S Ali, Elif I Ekinci, Rinki Murphy, Jerry R Greenfield