Australian parents' perspectives on extended genomic screening: what information to return and when?

Abstract

Genomic newborn screening (gNBS) has the potential to generate information that remains relevant across the lifespan, yet little is known about how families who have directly experienced gNBS, understand its long-term role and value. This study analysed the results of eight focus groups with 32 parents whose children had received findings from gNBS (through the BabyScreen+ study, a population-based Australian gNBS pilot programme), to explore how they conceptualise the use of genomic information beyond infancy (which we refer to as extended genomic sequencing, or eGS). Parents described a complex interplay of factors including treatability, severity, certainty, and personal capacity to manage information that shaped their desire to receive results. Using the Health Belief Model as a lens, we show how parental reflections mapped to constructs such as perceived benefits, barriers, severity, susceptibility, self-efficacy, and cues to action. However, parents' reasoning was dynamic rather than static, illustrating how shifts in clinical options or family circumstances influence decision making over time. Overall, our findings demonstrate that families view gNBS data as a potential lifetime resource and support the need for flexible consent pathways, ongoing counselling, and governance frameworks that anticipate both the benefits and burdens of genomic information. This work offers timely insights to inform ethical implementation of eGS in Australia and contributes to international discussions about integrating genomic sequencing into population-level screening.