UCSF Genomics Diagnostics Team Uses Next-Gen Sequencing as a ‘Laboratory-Developed Test’ to Reveal an Elusive Pathogen’s DNA and Save a Teen’s Life

It took UCSF physicians just 48 hours to identify the bacteria in cerebrospinal fluid that was causing fourteen-year-old Joshua Osborn’s hydrocephalus and status epilepticus

There’s rich irony in the FDA’s  recent announcement that it would move forward with plans to regulate “laboratory-developed tests ” (LDTs) just weeks after the national media published stories about how innovative use of an LDT helped physicians make an accurate diagnosis that saved the life of seriously-ill 14-year old boy.

Pathologists and clinical laboratory managers may be aware of the case of Joshua Osborn. It was a laboratory-developed test that used next-generation gene sequencing in a unique approach that gave his care team the diagnostic information they needed to select the right therapies for his condition.