Families’ experiences with pediatric immunology genomic testing: A cross-sectional survey

Abstract Genomic testing enables accurate diagnosis and tailored management of paediatric inborn errors of immunity (IEI). However, limited understanding of families' experiences and needs hinders the development of responsive models of care. This study aimed to assess families’ experiences with IEI genomic testing and psychosocial wellbeing. Eligible participants included carers of children who underwent IEI genomic testing at < 18 years between 2017–2025 in Queensland, Australia, and their adolescent/young adult (AYA) children (≥ 12 years). Cross-sectional surveys, using validated scales and purposively-designed items, captured participants’ experiences with IEI genomic testing, psychosocial wellbeing, and support needs. Cohort characteristics (carers n = 42, AYAs n = 10) were descriptively summarized and factors associated with carer psychological distress were evaluated using multivariable linear regression. High satisfaction with genomic testing was reported by carers (M:8.5/10;±2.3) and AYAs (M:8.0/10;±1.6) and carers assigned high personal utility to the results (M:4.7/7;±1.1). Over half of carers (n = 24/42) reported elevated psychological distress, with significantly higher levels among carers whose child received a positive genetic result (p < 0.05). Around half of AYAs (self- or proxy-reported) experienced difficulties across health-related quality-of-life domains and ≥ 20% of carers or AYAs reported clinically significant levels of anxiety, depression, anger and/or need for help. Participants expressed concerns about future reproductive planning (carers: n = 23/42;54%, AYAs: n = 6/10;60%) and transitioning to adult healthcare (carers: n = 9/42;21%, AYAs: n = 4/10;40%) and reported a need for condition-specific information (carers: n = 9/42;21%; AYAs n = 4/10;40%). These findings demonstrate high acceptability towards IEI genomic testing among families while highlighting the importance of tailored psychosocial and informational support.