Parents’ and children's views of wider genomic testing when used as part of newborn screening to identify cystic fibrosis

Newborn bloodspot screening (NBS) is currently undergoing a ‘revolution’ (Spiekerkoetter et al., 2023). The development of new therapies (Vockley et al., 2023) and the piloting of whole genome sequencing in healthy newborns (e.g. Newborn Genomes Programme, UK, BabySeq USA) are challenging NBS practice and policy, as well as the Wilson & Jungner criteria (Wilson & Jungner, 1968) that underpin them (Andermann et al., 2008; Rahimzadeh et al., 2022; Vears et al., 2023). The capacity to screen for large numbers of variants simultaneously and generate data with potential relevance across the life course, and for family members beyond the screened infant, has prompted widespread discussion of the benefits (e.g., early identification and treatment of screened conditions) and harms (e.g., identification of variants of unknown clinical significance) that such high throughput screening programmes bring (Bick et al., 2022; Remec et al., 2021; Spiekerkoetter et al., 2023; Tluczek et al., 2022).