Optimizing Informed Consent for Australian Newborn Bloodspot Screening and Research: Consensus Workshop Insights and Recommendations

Informed consent is fundamental to Australian newborn bloodspot screening (NBS), but emerging genomic screening technologies pose new challenges to clinical care and research. Optimizing consent processes is necessary to support ethical practice and maintain public trust as NBS evolves. This study aimed to identify gaps and opportunities to improve NBS consent processes in Queensland, Australia, while also exploring preliminary insights into the evolving complexity of consent in the context of genomic NBS (gNBS) and NBS-related research. A qualitative study design was used, with two facilitated interest-holder workshops (a total of 12 h) involving 86 participants (healthcare professionals, policy-makers, researchers, genomics experts, and consumer representatives). Workshop 1 (n = 25) was held virtually, and Workshop 2 (n = 61) was held in person. Thematic analysis was used to identify practical recommendations and ethical considerations. Participants identified three priority domains for improving consent in Queensland’s NBS program: (1) revision of the Guthrie Card and consent statement, (2) development of consistent, antenatal information resources across healthcare providers, and (3) standardized consent delivery training for healthcare staff. Discussions also highlighted tensions around information requirements for informed consent, revealing growing complexities regarding layered consent models. While recommendations on research consent were not fully developed at the workshop, insights highlighted the growing complexity and divergence of views on layered consent models. Findings suggest that improving NBS consent requires both operational reform and reassessment of ethical standards, alongside broader interest-holder engagement and feasible, scalable models also suited to genomic technologies. A nationally consistent framework is needed.