"It's a Godsend": Parental experiences of genomic testing for paediatric inborn errors of immunity

Abstract

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. Six themes captured (i) the diverse dimensions of distress related to paediatric IEI, (ii) the associated social, practical and financial implications, (iii) the involvement of children in their care, (iv) parental satisfaction with mainstreamed genomic testing, (v) the value of multidisciplinary care, and (vi) considerations surrounding genomic testing decision-making. Findings highlight the significant psychosocial impacts of paediatric IEI, including distinct social and emotional challenges. High satisfaction with mainstreamed IEI genomic testing was reported by all parents. Recommendations for improvement include developing tailored resources to address families ongoing psychoeducational needs, enhancing mental health support, and involving children appropriately. Collectively, these findings substantiate the benefits of mainstreamed IEI genomic testing, while expanding literature on the psychosocial impact of such paediatric conditions. Further exploration of families and children's needs and development of tailored resources are essential to ensure the delivery of patient-centred care.