The Washington Post profiles the rapid whole-genome sequencing program for critically ill infants at the Rady Children's Hospital genomic institute in San Diego, spearheaded by Stephen Kingsmore, as part of a broader discussion on the cost and utility of newborn sequencing.
The Post piece features the case of Maverick Coltrin, a child plagued by mysterious seizures that started when he was six days old. By sequencing the infant and his parents, the Rady team reportedly made an epilepsy diagnosis in just 39 hours, identifying a form of the disease that is successfully managed with vitamin B6.
"Kingsmore imagines a day when faster sequencing means a NICU doctor could order a DNA test, learn the results, and prescribe a treatment all within a possible 24-hour shift," author Sarah Elizabeth Richards writes. "In the meantime, Rady has established partnerships with several children's hospitals across the country so doctors can ship a patient's blood overnight to San Diego for DNA analysis."