“It’s a Godsend”: Parental Experiences of Genomic Testing for Paediatric Inborn Errors of Immunity

Genomic testing has become essential to diagnosing and managing paediatric inborn errors of immunity (IEI), necessitating the development of mainstream models of care to facilitate optimal delivery of testing. However, little is known about the experiences of families undergoing paediatric IEI genomic testing within mainstream settings and parental experiences with such conditions remain underexplored. Thus, this study aimed to describe the experiences of parents of children who underwent mainstreamed IEI genomic testing. Semi-structured interviews were conducted with 17 parents (14 mothers and 3 fathers) of children with an IEI and thematically analysed. Five themes captured (i) the diverse dimensions of distress related to paediatric IEI, (ii) the associated social, practical and financial implications, (iii) parental satisfaction with mainstreamed genomic testing, (iv) the value of multidisciplinary care, and (v) considerations surrounding genomic test decision-making. Findings highlight the significant psychosocial impacts of paediatric IEI, including distinct social and emotional challenges. High parental satisfaction with mainstreamed IEI genomic testing universal. Recommendations for improvement included developing tailored resources to address families ongoing psychoeducational needs, enhancing mental health support, and involving children appropriately. Collectively findings substantiate the benefits of mainstreamed IEI genomic testing, while expanding literature on the psychosocial impact of these paediatric conditions. Further exploration of families’ needs and development of tailored resources are essential to ensure delivery of patient-centred care.