Fast-tracked genetic testing helping sick kids

A new genetic testing regime for sick children with immune conditions could slash diagnosis waiting times from 12 months to as little as 2 weeks, University of Queensland research has found.

A study with Children’s Health Queensland has shown a new genetic testing process for children with immune conditions could speed up diagnoses, fast track treatments and save lives.

Dr Tatiane Yanes from UQ’s Frazer Institute said researchers examined nine years of genetic test data from 322 children tested through Queensland's paediatric immunology service to see how a new model of care could improve testing rates.

“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 Yanes said.

“We also had examples where families waited long periods for blood samples that were sent overseas for testing, or were referred to multiple different specialists, which can be incredibly stressful when they have a child who is battling an illness.

“Under a new model, we have introduced in-house pathology tests and streamlined access to specialists, which has meant children are getting diagnosed earlier and treated immediately.”

Genetic immune conditions are rare, but there are more than 500 conditions that can be life-threatening and cause children to be more vulnerable 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,” Dr Yanes said.

“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.

“Under our new model of genetics testing, once a diagnosis was made, the treatment plan changed in 90 per cent of cases, which was a big result.” 

Queensland Children’s Hospital Immunologist Dr Peter McNaughton said the new model has made a huge difference to patients.

“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 McNaughton said.

“We regularly hold multi-disciplinary team meetings where all specialists involved share knowledge on patient cases, which in turn allows everyone to upskill and cuts out the need for patients to be referred to several different specialists.

“This new model of care really is a team effort, and it’s making a huge difference to patients’ lives.”

Read the research published in Journal of Clinical Immunology.

Collaboration and acknowledgements