“It's a godsend” A qualitative exploration of parent experiences of mainstreamed genetic testing for inborn errors of immunity

Abstract

Background: Genomic testing (GT) is essential in diagnosing and treating children with inborn errors of immunity (IEI), with early diagnosis improving clinical and psychological outcomes. To facilitate access to GT, a mainstreaming model-of-care (MoC) was implemented in Brisbane, Australia. However, little is known about families' experiences in such settings or the complexities of caring for a child with an IEI. Aim: To explore the experiences of parents of children who received mainstreamed GT for IEI Methods: Purposive sampling was used to select participants based on test results (positive, negative, and variants of uncertain significance). Semi-structured interviews were conducted with participants, transcribed verbatim and thematically analysed. Results: 17 parents were interviewed. Participants described enduring challenges of caring for a child with an IEI, including the ongoing emotional, social, and financial impact of their diagnosis. Most parents reported traumatic feelings, stemming from medical emergencies, prolonged hospitalisation, isolation, and complex treatment. For most parents, the decision for their child to undergo GT was straightforward and driven by their trust in the healthcare team. Beneficial outcomes of testing included diagnostic clarity, access to curative treatment, and enhanced family planning. Some parents expressed concerns about potential insurance discrimination, respecting their child's autonomy, feeling overwhelmed, and experiencing parental guilt. Almost all parents reflected on challenges accessing family-friendly resources about their child's health condition. Conclusion: The mainstream service supported access to GT for paediatric IEI and was highly acceptable to parents. Tailored information and additional support could further aid families in adapting to GT results.