Two-day diagnostic for childhood genetic disease reduces wait times by months
KANSAS CITY, Mo.-(December 20, 2012)-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
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.
About Children's Mercy Hospitals and
Children's Mercy Hospitals and Clinics, located in Kansas City,
Mo., is one of the nation's top pediatric medical centers. The
351-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." For
the third time in a row, Children's Mercy has achieved Magnet
nursing designation, awarded to fewer than seven percent of all
hospitals nationally, for excellence in quality care. 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. For more information about Children's Mercy and its
research, visit childrensmercy.org or download our mobile
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About The Center for Pediatric Genomic Medicine at
Children's Mercy Hospital
The first of its kind in a pediatric setting, The Center for
Pediatric Genomic Medicine combines genome, computational and
analytical capabilities to bring new diagnostic and treatment
options to children with genetic diseases. For more information
about STAT-Seq, diagnostic tests and current research, visit www.pediatricgenomicmedicine.com.