- 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
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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.