Paediatric Inborn Errors of Immunity (BRIDGE Study)

Building Resources for Immunology Diagnostic GEnomics

Inborn errors of immunity (IEI), formerly referred to as primary immunodeficiency, are a group of severe genetic conditions that impact the immune system. In children, these conditions can lead to severe and life-threatening complications. Genomic testing allows for early IEI diagnosis, improving clinical, psychological, and economic outcomes. To make genomic testing for IEI more accessible, the Queensland Paediatric Immunology and Allergy Service (QPIAS) developed a mainstream model of care. Despite these efforts, challenges remain in providing timely and consistent genomic testing, and little is known about families’ experiences living with an IEI and undergoing genomic testing.

About the study:

The BRIDGE study aims to improve genomic testing for paediatric IEI and families’ experiences by:

  • Interviewing and surveying parents and children living with an IEI to explore the impact of such conditions, their experience undergoing genomic testing, and their support needs

  • Auditing current genomic testing practices for IEI and creating a Queensland IEI database

  • Interviewing healthcare professionals who provide genomic testing for IEI to map the current testing pathways and identify their support needs

These findings will guide a co-design process (where families and researchers work together) to develop resources that support families undergoing genomic testing for IEI and improve related genomic testing practices.

Contact us: study co-ordinator Dr Tatiane Yanes

BRIDGE-study@uq.edu.au

Research Outputs

Conference presentations:

  • Oral presentation, the Human Genetics Society of Australasia Annual Scientific Meeting (2022), Perth WA: Mainstreaming genomic testing for paediatric inborn errors of immunity: an evaluation of a novel model of care for genetic counsellors

  • Poster presentation, Australian Society of Clinical Immunology and Allergy Annual conference (2022), Sydney NSW: Mainstreaming model of care for genomic testing for inborn errors of immunity.

  • Poster presentation, European Society of Human Genetics conference (2022), Vienna, Austria: Mainstreaming genomic testing for children with undiagnosed inborn errors of immunity

  • Oral presentation, the Human Genetics Society of Australasia Annual Scientific Meeting (2024), Gold Cost QLD: Establishing the Queensland Database for Paediatric Inborn Errors of Immunity

  • Oral presentation, the Australasian Society of Clinical Immunology and Allergy (2024), Adelaide, SA: “It’s a Godsend!” A Qualitative Exploration of Parent Experiences of Mainstreamed Genetic Testing for Inborn Errors of Immunity

  • Poster presentation, the Australasian Society of Clinical Immunology and Allergy (2024), Adelaide, SA: Establishing the Queensland Database for Paediatric Inborn Errors of Immunity

  • Poster presentation, the European Society of Immunodeficiencies, Marseille, France (2024): “It’s a Godsend!” A Qualitative Exploration of Parent Experiences of Mainstreamed Genetic Testing for Inborn Errors of Immunity

  • Poster presentation, the European Society of Immunodeficiencies, Marseille, France (2024): Mainstream model of care for genomic testing for inborn errors of immunity

  • Poster presentation, the European Society of Immunodeficiencies, Marseille, France (2024): Establishing the Queensland Database for Paediatric Inborn Errors of Immunity

Publications:

  1. Yanes T., et al., (2023) Evaluation and pilot testing of a multidisciplinary model of care to mainstream genomic testing for paediatric inborn errors of immunity. European Journal of Human Genetics. Vol. 31 Available Here

Funding

  • Queensland Genomics Health Alliance

  • Leading Innovations through New Collaborations (LINC)

  • Queensland Health Targeted Clinical Research Fellowships (TCRF)