In 2025, we convened a national Australian citizens’ jury to deliberate on the question: “Under what circumstances, if any, should Australia use genomics in the newborn bloodspot screening program to ensure the program remains trustworthy and effective?”
Thirty Australian adults were recruited by random ballot invitation and stratified selection against population-based demographic targets: age, gender, ancestry, highest level of education, location of residence (state/territory; urban/non-urban), experience of disability, and parent/non-parent. Jurors received extensive information, and worked for 19 days via a private asynchronous message board and three two-hour online videoconference sessions with experts. In a three-day face-to-face meeting, with policy observers and content experts present, jurors deliberated and produced recommendations.
The jury's 11 recommendations outlined requirements that must be met before whole genome sequencing (WGS) is used in NBS: consistent national implementation, benefit to newborns, Commonwealth government oversight, public funding, additional consent requirements, reporting to parents, data governance, supporting parents and the healthcare system, and high-quality parent and public education. The jury disagreed on how much genomic data should be extracted and retained from WGS, with nine jurors supporting only extraction and retention of interpretable, actionable genetic information, and 21 jurors supporting a more expansive approach.
An informed mini-public supported using WGS in NBS only if stringent conditions were met. To maintain public trust in NBS, a conservative approach to data extraction and storage is recommended until programs can address concerns including identifiability of genomic data, consent, risk of data misuse, and potential to undermine trust and participation in NBS.