Fathers' and Mothers' Support Needs and Support Experiences After Rapid Genome Sequencing

Abstract

As early rapid genomic sequencing (rGS) is adopted in paediatric medicine, there is an urgency to understand and address family support needs. This mixed methods study (Peregrin*) examined the experiences of 96 parents, 1-5 years after receiving trio rGS results for their child with a severe early-onset condition. Quantitative outcome measures assessed parental well-being, life satisfaction, and family impact, comparing results to non-clinical population data, between mothers and fathers, and according to childs diagnostic outcome. Qualitative semi-structured interviews explored parents satisfaction with support, engagement with support networks, and unmet needs. Quantitatively, mothers exhibited elevated anxiety and depression relative to population norms, and there was a lack of strong correlation in well-being metrics within couples. Parents of children with a genomic diagnosis reported poorer well-being, explained by greater medical complexity. Qualitatively, insufficient support was more frequently reported by those whose child had received a genomic diagnosis (36%) compared to those without (6%). Families drew on a range of formal and informal support sources, including condition-specific groups, though these were accessed by a minority of fathers. These findings highlight persistent and evolving support needs in families affected by complex childhood health conditions, which persist after rGS. Parents support needs are highly individual, vary over time and across childrens illness trajectory. There remain important gaps between parental needs and support, impacting on family well-being.