Queensland model could slash diagnosis waits for sick kids

For a child with a serious immune condition, a diagnosis can take a year to arrive. A new genetic testing model, studied by University of Queensland researchers with Children's Health Queensland, could cut that wait to as little as two weeks.

There are more than 500 genetic immune conditions that can be life-threatening, leaving children more exposed to infection, allergies, inflammation, autoimmunity and cancer. Treatments depend on the condition and can include stem cell transplants, blood antibody infusions or infection prevention. The difficulty is often the first step. Dr Tatiane Yanes, of UQ's Frazer Institute, calls genetic testing the 'why' test: children are hospitalised with unexplained illnesses, and until the cause is known, doctors cannot target the treatment.

The team examined nine years of genetic test data from 322 children tested through Queensland's pediatric immunology service. The flaws were concrete. In 30% of cases, children were put through duplicate blood tests for no reason. Some families waited long periods for results from blood samples sent overseas, and others were referred to multiple specialists.

The new model brings pathology tests in-house and streamlines access to specialists. Multidisciplinary team meetings, where specialists share knowledge on each case, cut the need to refer patients to several different specialists, according to Queensland Children's Hospital immunologist Dr Peter McNaughton. Under the model, once a diagnosis was made, the treatment plan changed in 90% of cases.

For families, the gain is time. McNaughton argues that starting targeted treatment early means fewer cumulative problems and less organ damage, and a better chance for children to go to school rather than be in and out of hospital. The figures are the study's own, drawn from one service. The 12-month and two-week numbers describe what the model can achieve, and the study does not say how it would perform in other hospitals or states.