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Faster Turnaround Times

By speeding up the sequencing process, researchers at Rady Children's Hospital want to be able to turn tests around within one intensive care physician's shift, which can last 24 hours, MIT's Technology Review reports. That way, the results can quickly be put into action to treat sick infants.

It adds that researchers at Rady have gotten to that turnaround time. Last month, Shimul Chowdhury, who directs Rady's clinical lab, announced that he and his colleagues, including some at Illumina, sequenced and analyzed a whole genome within 19.5 hours to produce a genetic diagnosis. In 2016, that took Rady researchers about 26 hours. Last fall, they further reported at the American Society of Human Genetics meeting that for 42 infants in the NICU, sequencing was able to provide genetic diagnoses for about a third within a week.

The less-than-a-day turnaround time, though, isn't yet the norm there, Tech Review notes.

Stephen Kingsmore, president and CEO of Rady Children's Institute for Genomic Medicine, tells Tech Review that sequencing results have been able to both identify medications to treat children as well as treatments they should avoid. He says the information has helped some infants recover sooner, while saving the lives of others.

Testing costs about $6,000 per baby, Tech Review adds.