Stephen Kingsmore, M.D., D.Sc., and his team at Rady Children’s Institute for Genomic Medicine (San Diego) were awarded the Guinness World Records title for fastest genetic diagnosis on Feb. 3 with a time of 19.5 hours. Kingsome set the previous record of 26 hours in 2015, while at Children’s Mercy (Kansas City, Mo.). "Our evolving ability to find the answers to medical mysteries through rapid whole genome sequencing is providing hope for babies and children with rare, genetic diseases," said Kingsmore, president and CEO of Rady’s, in a statement. "By speeding delivery of genomic insights, we are equipping physicians with the information they need to provide precision care for the youngest and most fragile patients." Rady’s sequencing workflow is engineered to both accelerate and scale up genomic data interpretation—reducing the time and cost of whole genome sequencing. The institute says that up to one-third of babies admitted to a neonatal intensive care unit in the United States have a genetic disease, with treatment currently available for more than 500 of these genetic diseases. Quick initiation of therapy in newborns can help prevent disabilities and life-threatening illnesses associated with 70 of these conditions. The institute began performing genomic sequencing in July […]