親のゲノム新生児スクリーニング結果受領体験：BabyScreen+スタディからの知見

Genomic newborn screening (gNBS) provides the potential to offer significant health benefits. However, more evidence, including psychosocial impacts on parents, is needed before gNBS is ready for population-level implementation. The aim of this qualitative study was to explore parental experiences of receiving gNBS results from a prospective study, BabyScreen+. BabyScreen+ screened 1000 newborns for >600 genetic conditions that were early-onset, severe, and had management options available (prevention, surveillance or treatment). We interviewed parents three months after receiving their result. Interviews were analysed using reflexive thematic analysis, guided by Interpretive Description. Twenty-seven parents were interviewed, including nine who received a 'high chance' result for their newborn. Waiting for gNBS results was not unduly anxiety provoking. Low chance results provided psychosocial benefits including peace-of-mind and empowerment. Receiving a high chance result was unexpected and shocking, especially if the result was for a condition with significant treatment recommendations (e.g., transplantation). Psychosocial adaption to the subsequent diagnosis was an evolving process; access to genetic counselling, high-quality information and prompt referrals to specialists increased confidence in managing the condition and facilitated adaptation. All parents valued the high chance gNBS result given its clinical utility. The study provides support for gNBS by highlighting that it can provide valuable health information with minimal harms. Findings can be used to inform the implementation of population-scale gNBS.