Today investigators at Children’s Mercy Hospitals and Clinics in Kansas City reported the first use of whole genome information for diagnosing critically ill infants. As reported in Science Translational Medicine, the team describes STAT-Seq, a whole genome sequencing approach - from blood sample to returning results to a physician - in about 50 hours. Currently, testing even a single gene takes six weeks or more. Speed of diagnosis is most critical in acute care situations, as in a neonatal intensive care unit (NICU), where medical decision-making is made in hours not weeks. Using STAT-Seq, with consent from parents, the investigators diagnosed acutely ill infants from the hospital’s NICU. By casting a broad net over the entire set of about 3,500 genetic diseases, STAT-Seq demonstrates for the first time the potential for genome sequencing to influence therapeutic decisions in the immediate needs of NICU patients.
