Primary immunodeficiencies and immune regulatory deficiencies (PIRD), also called inborn errors of immunity, are rare genetic conditions that affect how the immune system works. Genomic testing can help diagnose these conditions earlier, leading to better health, emotional and economic outcomes. To make testing more available, the Queensland Paediatric Immunology and Allergy Service (QPIAS) at the Queensland Children’s Hospital, created new model of care where genomic testing is offered as part of routine services. However, there are still challenges in making sure testing is timely and consistent, and we know little about the needs of children and families undergoing genomic testing and living with PIRD.

About the study:

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

• Interviewing and surveying children and families living with a PIRD to explore the impact of such conditions, their experience undergoing genomic testing, and support needs.

• Auditing current genomic testing practices for PIRD and creating a Queensland paediatric PIRD database.

• Interviewing healthcare professionals who provide genomic testing for PIRD to map the current testing pathways and identify their areas for improvement.

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

Our work to date

To date, we have completed the following work:

• Created a model to deliver PIRD genomic testing as part of routine care: read study here.

• Explored genetic counselling considerations in PIRD: read study here. 

• Interviewed parents about their experiences: read study study

Study team

• Dr Tatiane Yanes (Chief Investigator)

• Emily DeBortoli

• Tenielle Clinch

• Amy Clark

How is this study funded?

This study is funded by:

1. Queensland Health, Queensland Genomics Health Alliance

2. Leading Innovations through New Collaborations (LINC)

3. Queensland Health Targeted Clinical Research Fellowship

Contact us

If you’re interested in learning more about this research or getting involved, please contact us via email (preferred) or phone.

📩 BRIDGE-study@uq.edu.au

☎️ +61 7 3443 7057