Faster Genetic Testing Could Shorten Diagnosis for Children With Immune Disorders

Some children with inherited immune disorders experience repeated infections, severe inflammation or other complications before the underlying cause is identified. Diagnosis can be delayed when families need multiple specialist appointments or when blood tests and genetic investigations are repeated without a coordinated plan.

Researchers from the University of Queensland and Children's Health Queensland reviewed nine years of genetic-testing data involving 322 children assessed by a paediatric immunology service. The report describes a coordinated model intended to speed up testing and bring specialists together to interpret results.

According to the published report, the model could reduce diagnostic waiting times dramatically in appropriate cases, and treatment plans changed in 90% of cases after a diagnosis was made. Researchers also found that some children had undergone duplicate blood tests, highlighting the potential value of better coordination.

Earlier diagnosis can help clinicians select targeted treatments, reduce avoidable complications and provide families with clearer information about the condition. However, the reported results come from a specific healthcare programme and may not translate directly to every hospital or health system.

Genetic testing should be selected and interpreted by qualified clinicians, with appropriate counselling for families about what the results mean and their limitations.