Stephen Kingsmore, MB ChB, DSc, FRCPath

Children’s Mercy Hospitals and Clinics, Kansas City, Mo, has received a $1 million grant from the William T. Kemper Foundation, which will be used to fund the Center for Pediatric Genomic Medicine at Children’s Mercy.

The Center, which is the first genome center in the world located inside a children’s hospital, with a focus on the diagnosis of inherited pediatric diseases, and to improving health care for children, according to Children’s Mercy.

The grant will allow the Center to offer critically ill patients in the hospital’s level IV neonatal intensive care unit (NICU), and their parents the opportunity to have their entire genome decoded and the results analyzed and returned to their physician in as little as 2 days. Children’s Mercy says it is the only pediatric hospital in the world with access to this rapid genome-sequencing approach, called STAT-Seq®, developed at the Center.

Up to one-third of babies admitted to a NICU in the United States have genetic diseases,” says Stephen Kingsmore, MB ChB, DSc, FRCPath, director of the Center. “By obtaining an interpreted genome in about 2 days, physicians can make practical use of diagnostic results to tailor treatments to individual infants and children.” 

STAT-Seq demonstrates the potential for genome sequencing to influence therapeutic decisions in the immediate needs of acute patients. “So often with these very rare genetic diseases, patients and physicians are on a diagnostic odyssey,” Kingsmore says. “Test after test, treatment after treatment, they don’t know what’s wrong. Now by having the entire genome information in days instead of months, physicians can get a diagnosis quickly and definitively effect treatment.”

The Center 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. This grant will fund additional equipment and staff to expand capacity and further the goal of diagnosing and treating as many children with genetic diseases as possible.

[Source: Children’s Mercy Hospitals and Clinics]