ArticleEuropean journal of human genetics : EJHG2025
"It's a Godsend": Parental experiences of genomic testing for paediatric inborn errors of immunity.
Article in European journal of human genetics : EJHG, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
2 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Values and preferences of patients with inborn errors of immunity and their caregivers: a systematic review.Frontiers in immunology · 2026Pooled it
- Uncertainty, ethics, and progress in genomic medicine.European journal of human genetics : EJHG · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors.
Funding
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.
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What Socratic holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.