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Fast-tracked genetic testing helping sick kids

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Fast-tracked genetic testing helping sick kids

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A new genetic testing approach for sick children with immune conditions could slash diagnosis waiting times from 12 months to as little as two 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 pediatric 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% of cases children were put through duplicate blood tests for no reason," Yanes said.

"We also had examples where families waited long periods for results from blood samples that were sent overseas for testing, or were referred to multiple 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 include stem cell transplants, blood antibody infusions or infection prevention.


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