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Rapid Genome Test for Infants Named One of TIME's Top Medical Breakthroughs of 2012

Posted on: December 28, 2012
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A rapid whole genome sequencing approach developed by the Center for Pediatric Genomic Medicine at Children's Mercy Hospitals and Clinics in Kansas City, was named one of TIME magazine's Top 10 Medical Breakthroughs of 2012.

In the October issue of the journal Science Translational Medicine, Children's Mercy researchers reported a proof-of-concept process, called STAT-Seq, which used whole genome sequencing to diagnose critically ill infants. STAT-Seq uses software developed at Children's Mercy, which translates physician-entered clinical features in individual patients into a comprehensive set of relevant diseases. This software substantially automates identification of the DNA variations that can explain the child's condition. The entire process - from blood draw to genome sequencing, analysis and diagnosis - took approximately 50 hours. Before STAT-Seq, testing even a single gene took six weeks, often longer.

"Fifty hours. That's how long it now takes to decode and interpret a newborn baby's genome -- an undertaking that used to take weeks or even months," TIME reported in its Top 10 Medical Breakthroughs of 2012. "And those two days can mean the difference between life and death for a critically ill infant."  The rapid genome mapping test is #7 on TIME's list.

"This test changes the paradigm for genetic sequencing and diagnosis. With the ability to decode a genome from start to finish in about two days, physicians can now rapidly apply all the appropriate medical innovations available to help those babies who need their care the most," said Stephen Kingsmore, M.B. Ch.B., D.Sc., FRCPath, Director of the Center for Pediatric Genomic Medicine at Children's Mercy. "Children's Mercy is extremely proud to be recognized by TIME for this breakthrough technology and we are excited about the benefit it will have in the care setting moving forward."

The Center plans to make STAT-Seq a routine test at Children's Mercy by next year. It is currently working at capacity to analyze data from patients at Children's Mercy as well as from other pediatric institutions across the United States and around the world. The Center is currently seeking additional funding to make the test as accessible as possible and meet the high demand.

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