Researchers Achieve 26-Hour Rapid Whole-Genome Sequencing In Critically Ill Infants; Fastest Turnaround Time in World; STAT-Seq Test IDs Mutations for 5,300 Genetic Diseases; Edico Data Analysis & Illumina Sequencer Among Keys to Record Speed

A study published on September 30, 2015 in an open-access article in Genome Medicine describes how researchers at Children's Mercy Kansas City, and colleagues, have cut in half the time needed for rapid whole-genome sequencing and genetic diagnosis in critically-ill infants, using a test that is called STAT-Seq. Through a variety of enhancements, the Center for Pediatric Genomic Medicine at Children's Mercy completed the STAT-Seq test in 26 hours compared to 50 hours, improving on a turnaround time that was already the fastest available in the world. The STAT-Seq test can identify mutations across the genome associated with approximately 5,300 known genetic diseases, and in some cases even identify previously unknown genetic diseases. In contrast, standard clinical practice calls for an array of genetic tests to be performed, which are time-consuming, costly and can only test for a limited set of disorders. The Genome Medicine article is titled “A 26-Hour System of Highly Sensitive Whole genome sequencing for emergency management of genetic diseases.” Lead authors of the study were Neil Millerand Emily Farrow, Ph.D., C.G.C., of Children's Mercy Kansas City, and senior author was Stephen Kingsmore, D.Sc., who was previously also at Children’s Mercy, but recently became the inaugural CEO of the Genomics Institute at Rady Children’s Hospital San Diego. "We believe rapid genome sequencing of critically-ill infants with suspected genetic diseases is a breakthrough application for genomic medicine," said Dr. Farrow, Director of Laboratory Operations and a genetic research scientist at the Center for Pediatric Genomic Medicine at Children's Mercy.
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