{
  "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.\n\nMethods: 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).\n\nResults: 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%).\n\nConclusion: 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.\n\nSupplementary Information: The online version contains supplementary material available at https://doi.org/10.1007/s10875-026-02057-3.",
  "abstract_shown": true,
  "affiliations": [
    "Frazer Institute, Dermatology Research Centre, University of Queensland, Brisbane, Queensland Australia",
    "Queensland Paediatric Immunology and Allergy Service, Children’s Health Queensland, Brisbane, Queensland Australia",
    "Clinical Support Queensland, Pathology Queensland, Brisbane, Queensland Australia",
    "Faculty of Health, Medicine and Behavioural Sciences, University of Queensland, Brisbane, Queensland Australia",
    "School of Environment and Science, Griffith University, Brisbane, Queensland Australia",
    "Department of Metabolic Medicine, Children’s Health Queensland, Brisbane, Queensland Australia",
    "Department of Paediatrics, Monash University, Melbourne, Victoria Australia",
    "Department of Paediatrics and Child Health, University of Queensland, Brisbane, Queensland Australia"
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 14,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Emily DeBortoli"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Tenielle Clinch"
    },
    {
      "affs": [
        0
      ],
      "name": "Larissa Vaz-Gonçalves"
    },
    {
      "affs": [
        0
      ],
      "name": "Lucy Burbury"
    },
    {
      "affs": [
        0
      ],
      "name": "Cian Thomas"
    },
    {
      "affs": [
        2
      ],
      "name": "Meg Jeppesen"
    },
    {
      "affs": [
        1,
        3,
        4
      ],
      "name": "Alberto Pinzon-Charry"
    },
    {
      "affs": [
        1
      ],
      "name": "Mariana Melo"
    },
    {
      "affs": [
        1
      ],
      "name": "Anna Sullivan"
    },
    {
      "affs": [
        5,
        6
      ],
      "name": "Matthew F. Hunter"
    },
    {
      "affs": [
        1,
        7
      ],
      "name": "Jane Peake"
    },
    {
      "affs": [
        0
      ],
      "name": "Aideen McInerney-Leo"
    },
    {
      "affs": [
        1,
        7
      ],
      "name": "Peter McNaughton"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Tatiane Yanes"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/5s3012nkd9kk7.bib",
  "cited_by": 0,
  "doi": "10.1007/s10875-026-02057-3",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13736314/",
  "id": "5s3012nkd9kk7",
  "issns": [
    "0271-9142",
    "1573-2592"
  ],
  "landing_url": "https://doi.org/10.1007/s10875-026-02057-3",
  "language": "en",
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Research"
    ],
    [
      "openalex",
      "2403|Immunodeficiency and Autoimmune Disorders"
    ]
  ],
  "openalex": "W7197020628",
  "pdf_url": null,
  "pmcid": "PMC13736314",
  "pmid": "42983005",
  "published": "2026-08-06",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/5s3012nkd9kk7.ris",
  "sources": [
    {
      "first_seen": "2026-11-09T12:21:47Z",
      "native_id": "PMC13736314",
      "source": "pmc",
      "url": "https://doi.org/10.1007/s10875-026-02057-3"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:2403|Immunodeficiency and Autoimmune Disorders",
      "subfield": "immunology"
    }
  ],
  "title": "Evaluating Genomic Testing in Pediatric Inborn Errors of Immunity: An Optimal Model of Care",
  "title_text": "Evaluating Genomic Testing in Pediatric Inborn Errors of Immunity: An Optimal Model of Care",
  "type": "peer-reviewed",
  "updated_at": "2026-11-09T12:21:47Z",
  "url": "https://research.draconitic.com/paper/5s3012nkd9kk7",
  "venue": "Journal of Clinical Immunology",
  "versions": []
}