Children's Mercy receives $5 million NIH grant for 50-hour genomic diagnosis in critically ill newborns

Children's Mercy Hospital in Kansas City, Mo. has received a research grant for more than $5 million from the Eunice Kennedy Shriver National Institute of Child Health and Human Development and the National Human Genome Research Institute at the National Institutes of Health. The grant allows Children's Mercy to assess the benefits of making STAT-Seq, currently the fastest whole genome analysis in the world, routine for diagnosis of acutely ill infants in neonatal intensive care units (NICUs).

"We are very grateful to receive this pioneering federal award," said Dr. Stephen Kingsmore, Director of the Center for Pediatric Genomic Medicine at Children's Mercy and Principal Investigator of the grant. "We believe that 30 percent of the babies in our NICUs are likely to benefit from next-day genome sequencing. This grant will generate the critical data to guide the use of rapid genome sequencing in the diagnosis and treatment of acutely ill babies."

The award, "Clinical and Social Implications of 2-day Genome Results in Acutely Ill Newborns," will fund studies to improve the speed and cost-effectiveness of STAT-Seq, and to evaluate the benefits, and potential harms, of rapid genome sequencing in newborns in nurseries and intensive care units.

"More than 20 percent of infant deaths are caused by congenital malformations, deformations and chromosomal abnormalities caused by genetic illnesses," said Dr. Howard Kilbride, Director of the Division of Neonatology for Children's Mercy. "Families want answers, and they want them quickly. This technology – and this grant, in particular – will help make that happen."

STAT-Seq is being developed by the hospital's Center for Pediatric Genomic Medicine in collaboration with Illumina Inc., and uses rapid whole genome sequencing to help physicians make a timely diagnosis in newborns who are acutely ill, likely with a genetic disease. STAT-Seq sets a new standard for speed, taking less than 50 hours from test order to the delivery of an interim report to a physician.

Children Mercy's research under this grant will in part be made possible by industry-leading newborn screening technologies from PerkinElmer, whose solutions have helped screen more than 400 million babies worldwide for a variety of life-threatening diseases.

Provided by Children's Mercy Hospital