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Getting Some Diagnoses

Rapid genetic testing of critically ill infants and children with unknown diseases has led to diagnoses for about half, the Sydney Morning Herald reports.

It adds that a study from the Australian Genomics Health Alliance used ultra-rapid genetic testing to analyze samples from 108 children, receiving results in about three days, as compared to the usual months-long wait. Through this, researchers were able to give diagnoses to 55 families, it says. 

According to the Herald, 12 children received targeted treatment as a result of their diagnosis and eight were monitored for complications associated with their diagnosis, while 14 were given palliative care. Quinn Boyce, for instance, was born with a serious heart condition and sequencing traced it to the X-linked TAF1 gene, the Herald writes. His parents tell it that while surgeries may have expended Quinn's life for a few months, his quality of life would have declined.

"If that process had stretched out to six months, it would have been awful," Erin Boyce tells the paper. She adds that they "feel incredibly lucky to have found out early ... it enabled us to have a good life with him."

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