Evaluating Genomic Testing in Pediatric Inborn Errors of Immunity: An Optimal Model of Care
8 affiliations
- 1Frazer Institute, Dermatology Research Centre, University of Queensland, Brisbane, Queensland Australia
- 2Queensland Paediatric Immunology and Allergy Service, Children’s Health Queensland, Brisbane, Queensland Australia
- 3Clinical Support Queensland, Pathology Queensland, Brisbane, Queensland Australia
- 4Faculty of Health, Medicine and Behavioural Sciences, University of Queensland, Brisbane, Queensland Australia
- 5School of Environment and Science, Griffith University, Brisbane, Queensland Australia
- 6Department of Metabolic Medicine, Children’s Health Queensland, Brisbane, Queensland Australia
- 7Department of Paediatrics, Monash University, Melbourne, Victoria Australia
- 8Department of Paediatrics and Child Health, University of Queensland, Brisbane, Queensland Australia
Abstract
Purpose: While genomic testing is integral to the management of pediatric inborn errors of immunity (IEI), few studies have examined strategies to support its optimal integration into routine healthcare. Thus, this study aimed to: (i) describe a pediatric IEI cohort and genomic testing practices, and (ii) assess the impact of implementing a multidisciplinary genomic model of care (MoC) on service outcomes.
Methods: A comprehensive chart audit was conducted for patients (≤ 18years) who received IEI genomic testing in Queensland, Australia, from 2017 to 2025. Descriptive analyses captured demographics, clinical characteristics, genomic testing and results, and management outcomes. Inferential analyses assessed changes in genomic practices pre-MoC (< 2021) and post-MoC (≥ 2021).
Results: 322 patients met eligibility criteria (n = 481 genomic tests). Diagnostic yield (mean:26.7%) varied by testing indication, with the highest rate among phagocytic defects (n = 4/4;100%) and severe combined immunodeficiency (n = 8/10;80.0%). Very early-onset inflammatory bowel disease had the lowest diagnostic yield (n = 3/68;4.4%), prompting local changes to testing criteria. Among patients with an IEI molecular diagnosis (n = 79), 89.9% received a management change recommendation. Genomic testing was widely used pre-MoC (n = 259 genomic tests). All outcomes significantly improved from pre-MoC to post-MoC (p < 0.05, chi-square test): duplicate testing eliminated (13.5% to 0.0%); variants of uncertain significance reduced (37.7% to 7.1%); informed consent documentation improved (70.5% to 88.4%); and diagnostic yield increased (14.5% to 27.4%).
Conclusion: Implementing a multidisciplinary genomic MoC in pediatric IEI improved clinical and health service outcomes. Building on these findings, this study offers practical recommendations for integrating genomic testing into routine pediatric IEI practice, to enhance diagnostic pathways and health service performance.
Supplementary Information: The online version contains supplementary material available at https://doi.org/10.1007/s10875-026-02057-3.
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BibTeX
@article{debortoli2026evaluating,
title = {{Evaluating Genomic Testing in Pediatric Inborn Errors of Immunity: An Optimal Model of Care}},
author = {Emily DeBortoli and Tenielle Clinch and Larissa Vaz-Gonçalves and Lucy Burbury and Cian Thomas and Meg Jeppesen and Alberto Pinzon-Charry and Mariana Melo and Anna Sullivan and Matthew F. Hunter and Jane Peake and Aideen McInerney-Leo and Peter McNaughton and Tatiane Yanes},
journal = {Journal of Clinical Immunology},
year = {2026},
month = aug,
doi = {10.1007/s10875-026-02057-3},
url = {https://doi.org/10.1007/s10875-026-02057-3},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Evaluating Genomic Testing in Pediatric Inborn Errors of Immunity: An Optimal Model of Care
AU - Emily DeBortoli
AU - Tenielle Clinch
AU - Larissa Vaz-Gonçalves
AU - Lucy Burbury
AU - Cian Thomas
AU - Meg Jeppesen
AU - Alberto Pinzon-Charry
AU - Mariana Melo
AU - Anna Sullivan
AU - Matthew F. Hunter
AU - Jane Peake
AU - Aideen McInerney-Leo
AU - Peter McNaughton
AU - Tatiane Yanes
PY - 2026
DA - 2026/08/06
JO - Journal of Clinical Immunology
DO - 10.1007/s10875-026-02057-3
UR - https://doi.org/10.1007/s10875-026-02057-3
AB - Purpose: While genomic testing is integral to the management of pediatric inborn errors of immunity (IEI), few studies have examined strategies to support its optimal integration into routine healthcare. Thus, this study aimed to: (i) describe a pediatric IEI cohort and genomic testing practices, and (ii) assess the impact of implementing a multidisciplinary genomic model of care (MoC) on service outcomes. Methods: A comprehensive chart audit was conducted for patients (≤ 18years) who received IEI genomic testing in Queensland, Australia, from 2017 to 2025. Descriptive analyses captured demographics, clinical characteristics, genomic testing and results, and management outcomes. Inferential analyses assessed changes in genomic practices pre-MoC (< 2021) and post-MoC (≥ 2021). Results: 322 patients met eligibility criteria (n = 481 genomic tests). Diagnostic yield (mean:26.7%) varied by testing indication, with the highest rate among phagocytic defects (n = 4/4;100%) and severe combined immunodeficiency (n = 8/10;80.0%). Very early-onset inflammatory bowel disease had the lowest diagnostic yield (n = 3/68;4.4%), prompting local changes to testing criteria. Among patients with an IEI molecular diagnosis (n = 79), 89.9% received a management change recommendation. Genomic testing was widely used pre-MoC (n = 259 genomic tests). All outcomes significantly improved from pre-MoC to post-MoC (p < 0.05, chi-square test): duplicate testing eliminated (13.5% to 0.0%); variants of uncertain significance reduced (37.7% to 7.1%); informed consent documentation improved (70.5% to 88.4%); and diagnostic yield increased (14.5% to 27.4%). Conclusion: Implementing a multidisciplinary genomic MoC in pediatric IEI improved clinical and health service outcomes. Building on these findings, this study offers practical recommendations for integrating genomic testing into routine pediatric IEI practice, to enhance diagnostic pathways and health service performance. Supplementary Information: The online version contains supplementary material available at https://doi.org/10.1007/s10875-026-02057-3.
SN - 0271-9142
SN - 1573-2592
ER -