Why does this research matter?
Genetic immunology conditions, referred to in medical settings as inborn errors of immunity, affect up to 1 in 2,000, most of which are children. These conditions can cause significant health issues and emotional challenges. Genetic testing, which uses a blood or saliva sample to look for changes in DNA, can help with diagnosing and managing these conditions, though a genetic diagnosis is only found in 20-30% of cases. Despite this, there is limited research on the experiences of families and children undergoing immunology genetic testing. There are also few resources to support families through this process and minimal guidance for clinicians involved in delivering testing.
BRIDGE study aims
The BRIDGE study aims to explore the experiences of families undergoing immunology genetic testing and identify their unmet needs. This study also aims to review how immunology genetic testing is currently delivered and identify gaps in care. These findings will help us to create resources to better support families and clinicians in the future.
What we have achieved so far
So far, we have:
Implemented and evaluated a mainstream model where immunology genetic testing is now part of routine care. This model has improved the use of testing and has identified children who would benefit from updated testing. ➡️ To find out more, check out this study
Interviewed parents of children with an immunology condition. Briefly, parents spoke about the impact of their child’s condition on their daily life and their emotions. Families felt they needed more support to help with the genomic testing process and ongoing healthcare.
Current research updates
Our current research includes:
Auditing immunology genetic testing practices to assess its impact on patient outcomes and the long-term effects of the new model of care
Interviewing clinicians involved in delivering immunology genetic testing to map the current testing pathway and identify gaps in care.
Surveying children (12+) who have had immunology genetic testing and their parents/carers to capture the long-term impact of living with these conditions, undergoing testing, and any unmet needs.
What’s next? Future research areas
In the next stage, we will:
Design resources with parents and children to address families' unmet needs related to immunology genetic testing.
Design resources with healthcare providers to help them deliver timely, appropriate genetic testing.
Staying up to date
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
Who is working on this study?
Dr Tatiane Yanes, Emily DeBortoli, Tenielle Clinch, & Amy Clark
How is this study funded?
Queensland Genomics Health Alliance, Leading Innovations through New Collaborations, & Queensland Health Targeted Clinical Research Fellowships