A new genetic testing model developed by University of Queensland researchers in collaboration with Children’s Health Queensland could slash diagnosis waiting times for sick children with immune conditions from 12 months down to as little as 2 weeks.
Queensland Paediatric Immunology Service Review of 322 Patient Cases
To identify flaws in how the state previously handled evaluations, an analysis was performed on nine years of genetic test data involving 322 children assessed by Queensland’s paediatric immunology service. The investigation, conducted by the University of Queensland’s Frazer Institute, revealed that patients frequently faced prolonged delays while blood samples were shipped overseas for analysis or endured fragmented referrals to multiple specialists.
Dr Tatiane Yanes noted that the previous approach placed heavy emotional strain on families already coping with serious illnesses.
Genomic testing is important for children with immune conditions, but we found in 30 per cent of cases children were put through duplicate blood tests for no reason.
Dr Tatiane Yanes, Frazer Institute
In-House Pathology and Multidisciplinary Team Meetings
The intervention introduced in-house pathology tests and streamlined access to specialists, allowing clinicians to diagnose patients earlier and initiate therapies immediately.
Although genetic immune conditions are uncommon, upwards of 500 such disorders exist that can endanger lives and heighten pediatric susceptibility to infection, allergies, inflammation, autoimmunity and cancer. Depending on the condition, treatments can range from stem cell transplants, blood antibody infusions, or infection prevention.
We describe the genetic testing as the ‘why’ test. Children are hospitalised for life-threatening conditions, unusual infections, or autoimmune conditions but we don’t know why – this is where genetics testing comes in. Once we know the ‘why’ we can better manage the condition.
Dr Tatiane Yanes, Frazer Institute
Clinical Outcomes and Treatment Plan Changes
Once a diagnosis was made, the treatment plan changed in 90 per cent of cases, marking a big result.
Queensland Children’s Hospital Immunologist Dr Peter McNaughton explained that the new pathway relies on regular multidisciplinary team meetings where all specialists involved share knowledge on patient cases. Through this shared teamwork approach, staff continually build their expertise while sparing patients from visiting multiple distinct specialists.
A faster result and diagnosis mean we can start targeted treatments early which leads to less cumulative problems, less organ damage, and increases the chance of kids leading a more normal life and attending school rather than being in and out of hospital.
Dr Peter McNaughton, Queensland Children’s Hospital
The findings from the collaborative research project have been published in the Journal of Clinical Immunology, detailing the framework behind the faster diagnostic regime.