Psychosocial Impact of Paediatric Early Rapid Genomic Testing and Diagnosis: A Mixed Methods Study of Parental Adjustment, Adaptation, Risk and Resilience

Abstract

Technological advances have expanded the availability of genome sequencing in Paediatrics, with infants and children in intensive care units being eligible for rapid trio testing (rWGS). In the UK, the Next Generation Children Project (NGC; French et al., 2019, 2022) was the first large cohort of infants and children (521 families) to have received rapid trio WGS analysis for any suspected single gene disorder during their time in an Intensive Care Unit or under tertiary clinics. This Peregrin* study follows up mothers and fathers from the NGC project and applies a mixed methods approach to explore their perspectives on the psychosocial impact of rWGS, including potential benefits and harms, personal utility, decisional regret, and support needs. A secondary aim was to identify risk and protective factors for family adjustment and adaptation. Participants included 96 parents from 63 families, of whom 58% had received a molecular diagnosis of mostly rare or ultra-rare disease in their child. Validated online questionnaires were completed by fathers and mothers, who reported on demographic variables, family impact, child’s quality of life, and parent wellbeing. 91 parents completed semi-structured individual Zoom-based interviews, which were analysed by framework and deductive and inductive content analysis methods (Forman & Damschroder, 2007; Gale et al., 2013; Kyngäs, 2020). Questionnaire data were compared with population norms, between parents of children with/without a molecular diagnosis and between mothers and fathers within couples. To consider effects of diagnosis and parent gender on parent and family wellbeing, IBM SPSS Statistics was used for descriptive statistics, correlations, and linear regression analyses. Both negative and positive rWGS results were viewed by parents as worthwhile and helpful in facilitating adjustment, adaptation, and long-term decision-making. Parents reported multiple benefits relating to personal utility, beyond their child’s medical management, including reproductive autonomy, enhanced coping, mental preparation, and behavioural and social benefits, expressed low decisional regret or harm from rWGS, and endorsed early testing. However, many parents also reported feeling anxious and/or uncertain about the future. Overall, 25.3% of parents (36% in the diagnosed group) reported insufficient support and unmet needs. Condition-specific support groups were helpful to many, but parents’ engagement, information needs, and ability to cope with diagnosis and prognosis varied. Families undergoing early genomic sequencing require holistic family support pre- and post testing and across the child’s illness trajector