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New DNA test can diagnose newborn disorders in two days

Robin Wulffson MD's picture
DNA test, genome sequencing, birth defects, genetics, STAT-Seq

Prompt diagnosis of genetic abnormalities is important for a newborn’s health. Currently, testing even a single gene can take six weeks or more. However, a new genome sequencing technique can reduce the times to 50 hours.

The breakthrough was announced on October 3 and published the same day in the journal Science and Translational Medicine by researchers affiliated with Children’s Mercy Hospitals and Clinics in Kansas City.

The researchers note that their STAT-Seq® whole genome sequencing approach can produce results from a blood sample in about 50 hours. The new procedure can promptly diagnose critically ill infants; thus, facilitating their survival. 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, STATSeq demonstrates for the first time the potential for genome sequencing to influence therapeutic decisions in the immediate needs of NICU patients.

“Up to one third of babies admitted to a NICU in the US have genetic diseases,” explainedbStephen Kingsmore, M.B. Ch.B., D.Sc., FRCPath, Director of the Center for PediatricbGenomic Medicine at Children’s Mercy. He added, “By obtaining an interpreted genome in about two days, physicians can make practical use of diagnostic results to tailor treatments to individual infants and children.”

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The researchers note that genetic diseases affect about 3% of children and account for 15% of childhood hospitalizations. Treatments are currently available for more than 500 genetic diseases. In about 70 of these, such as infantile Pompe disease and Krabbe disease, initiation of therapy in newborns can help prevent disabilities and life-threatening illnesses. STAT-Seq uses software that translates physician-entered clinical features in individual patients into a comprehensive set of relevant diseases. Developed at Children’s Mercy, this software substantially automates identification of the DNA variations that can explain the child’s condition. The team uses Illumina’s HiSeq 2500® system, which sequences an entire genome at high coverage in about 25 hours.

The investigators note that further research is needed because STAT-Seq also has the potential to offer cost-saving benefits. “By shortening the time-to-diagnosis, we may markedly reduce the number of other tests performed and reduce delays to a diagnosis,” explained Dr. Kingsmore. He added, “Reaching an accurate diagnosis quickly can help to shorten hospitalization and reduce costs and stress for families.”

About Children’s Mercy Hospitals and Clinics

Children’s Mercy Hospitals and Clinics, located in Kansas City, Missouri, is one of the nation’s top pediatric medical centers. The 333-bed hospital provides care for children from birth through the age of 21, and has been ranked by U.S. News & World Report as one of “America’s Best Children’s Hospitals” and recognized by the American Nurses Credentialing Center with Magnet designation for excellence in nursing services. Its faculty of 600 pediatricians and researchers across more than 40 subspecialties are actively involved in clinical care, pediatric research, and educating the next generation of pediatric subspecialists.

Science and Translational Medicine
Children’s Mercy Hospitals and Clinics in Kansas City