Rapid DNA Sequencing Helps Rady Treat Children with Rare Disorders

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Genetic testing at the Rady Children’s Institute for Genomic Medicine. Courtesy of the institute

Rady Children’s Hopsital is now licensed to perform clinical-grade diagnostic testing to decode the DNA of babies and children with rare genetic disorders.

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Rapid whole genome sequencing is being used by scientists at the Rady Children’s Institute for Genomic Medicine to speed diagnosis and provide precise treatment for patients in intensive care.

“Our laboratory processes are engineered to reveal disease-causing gene variations in as little as three days, compared with the weeks required to obtain results with traditional testing methods,” said Shimul Chowdhury, director of Rady’s Clinical Genome Center. “Speed is especially important for those newborns who are struggling to survive.”

Rady has pioneered the use of rapid whole genome sequencing in newborns and now has one of the few laboratories in the country licensed and certified to perform clinical-grade whole genome sequencing.

“Our ultimate goal is that genomic sequencing in pediatric intensive care becomes routine,” said Chowdhury. “We’ve seen the benefits of this testing at Rady Children’s Hospital and we are working to extend our capabilities to other children’s hospitals. We feel very strongly that genetic testing offers a lot of benefit for patients and families.”

Rady Children’s Hospital is a 551-bed pediatric care facility providing the largest source of comprehensive pediatric medical services in San Diego, southern Riverside and Imperial counties.

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