The Australian landscape of newborn screening in the genomics era

Abstract

In Australia, over 300,000 newborns undergo newborn bloodspot screening (NBS) annually, with approximately 1 in 1,000 identified with a rare but actionable condition through this pathway. Prior to 2018, the inclusion criteria for adding conditions in NBS panels was inconsistent nationally, leading to the development of the Australian National Newborn Bloodspot Screening Policy Framework. This framework promotes systematic and evidence-based inclusion of conditions using criteria closely informed by traditional Wilson and Junger screening principles. Current policy initiatives are focused on achieving national consistency in the conditions screened. NBS programs, initiated in the 1960s, have used a variety of techniques, including but not limited to tandem mass spectrometry and immunological assays. The acceleration of genomic technologies has the potential to greatly increase the number of conditions screened and match affected newborns with innovative treatment options, including advanced (gene, immune modulation, and RNA) therapies. This review describes the evolution, current status quo, and outlook for Australian NBS programs with a focus on the implications of wider adoption of genomic newborn screening (gNBS) in our culturally, geographically, and genetically diverse population. We discuss the potential for transformative benefits for families with children identified by gNBS and how this must be balanced against the potential for a range of unintended negative consequences. We emphasise the importance of a nationally agreed, coordinated, and streamlined approach to the addition and removal of conditions from Australian NBS programs, which considers the utility, cost, ethical, and equity aspects of gNBS.