"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 financia

SUBMITTER: Clark A 

PROVIDER: S-EPMC12479962 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature