50-Hour Whole Genome Sequencing Provides Rapid Diagnosis For Children With Genetic Disorders
KANSAS CITY, Mo. - OCTOBER 3, 2012-Â Today investigators at Children's MercyÂ Hospitals and Clinics in Kansas City reported the first use of whole genome information forÂ diagnosing critically ill infants. As reported in Science Translational Medicine,Â the teamÂ describes STAT-SeqÂ®, a whole genome sequencing approach - from blood sample toÂ returning results to a physician - in about 50 hours. Currently, testing even a single geneÂ takes six weeks or more.
Speed of diagnosis is most critical in acute care situations, as in a neonatal intensive careÂ unit (NICU), where medical decision-making is made in hours not weeks. Using STAT-Seq,Â with consent from parents, the investigators diagnosed acutely ill infants from the hospital'sÂ NICU. By casting a broad net over the entire set of about 3,500 genetic diseases, STATSeqÂ demonstrates for the first time the potential for genome sequencing to influenceÂ therapeutic decisions in the immediate needs of NICU patients.
"Up to one third of babies admitted to a NICU in the U.S. have genetic diseases," saidÂ Stephen Kingsmore, M.B. Ch.B., D.Sc., FRCPath, Director of the Center for PediatricÂ Genomic Medicine at Children's Mercy. "By obtaining an interpreted genome in about twoÂ days, physicians can make practical use of diagnostic results to tailor treatments toÂ individual infants and children."
Genetic diseases affect about three percent of children and account for 15 percent ofÂ childhood hospitalizations. Treatments are currently available for more than 500 geneticÂ diseases. In about 70 of these, such as infantile Pompe disease and Krabbe disease,Â initiation of therapy in newborns can help prevent disabilities and life-threatening illnesses.Â STAT-Seq uses software that translates physician-entered clinical features in individualÂ patients into a comprehensive set of relevant diseases. Developed at Children's Mercy, thisÂ software substantially automates identification of the DNA variations that can explain theÂ child's condition. The team uses Illumina's HiSeq 2500Â® system, which sequences an entireÂ genome at high coverage in about 25 hours.
AlthoughÂ further research is needed, STAT-Seq also has the potential to offer cost-savingÂ benefits. "By shortening the time-to-diagnosis, we may markedly reduce the number ofÂ other tests performed and reduce delays to a diagnosis," said Kingsmore. "Reaching anÂ accurate diagnosis quickly can help to shorten hospitalization and reduce costs and stressÂ for families."
About Children's Mercy Hospitals and Clinics
Children's Mercy Hospitals and Clinics, located in Kansas City, Mo., is one of the nation'sÂ top pediatric medical centers. The 333-bed hospital provides care for children from birthÂ through the age of 21, and has been ranked by U.S. News & World ReportÂ as one ofÂ "America's Best Children's Hospitals" and recognized by the American Nurses CredentialingÂ Center with Magnet designation for excellence in nursing services. Its faculty of 600Â pediatricians and researchers across more than 40 subspecialties are actively involved inÂ clinical care, pediatric research, and educating the next generation of pediatricÂ subspecialists. For more information about Children's Mercy and its research, visitÂ childrensmercy.org or download our mobile phone app CMH4YOUÂ for all phone types. ForÂ breaking news and videos, follow us on Twitter, YouTube and Facebook.
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 MedicineÂ combines genome, computational and analytical capabilities to bring new diagnostic andÂ treatment options to children with genetic diseases. For more information about STAT-Seq,Â diagnostic tests and current research, visit www.pediatricgenomicmedicine.com.