Scanning the DNA of sick infants using a new speed-reading method can diagnose rare genetic disorders in two days instead of weeks, according to research that brings gene mapping a step closer to everyday hospital use. Researchers at Childrens Mercy Hospitals and Clinics in Kansas City, Missouri, created software that takes raw data from DNA scanning machines and combs though hundreds of genetic disorders to spot disease-causing mutations. The system provided likely diagnoses for three of four sick babies in about two days, results published in Science Translational Medicine found. The new method has the potential to make genome sequencing practical for neonatal intensive care units, enabling doctors to diagnose mysterious genetic diseases more quickly, said Stephen Kingsmore, director of the Center for Pediatric Genomic Medicine at Childrens Mercy and a study senior author. Fast diagnoses of sick babies could lead to life-extending treatments sooner in some or help avoid futile, costly therapies in others. This is the biggest breakthrough in this technology for clinical applications we have seen in a few years, said David Dimmock, a geneticist at the Medical College of Wisconsin and Childrens Hospital of Wisconsin in Milwaukee, who wasnt involved in the study. The ability to … Continue reading →

Babies with genetic disorders can have their whole genome screened for muations in just two days. Taylor S. Kennedy/ Getty Images A faster DNA sequencing machine and streamlined analysis of the results can diagnose genetic disorders in days rather than weeks, as reported today in Science Translational Medicine1. Up to a third of the babies admitted to neonatal intensive care units have a genetic disease. Although symptoms may be severe, the genetic cause can be hard to pin down. Thousands of genetic diseases have been described, but relatively few tests are available, and even these may detect only the most common mutations. Whole-genome sequencing could test for many diseases at once, but its cost, the complexity of the results and the turnaround time are prohibitive. In what they hope will be a prototype for other hospitals, a research team led by Stephen Kingsmore at Childrens Mercy Hospital in Kansas City, Missouri, has implemented a much faster, simpler systemfor finding relevant mutations in whole-genome sequences that is designed for physicians without specialized genetic training. These kinds of innovation will help more hospitals bring sequencing into clinical care, says Richard Gibbs, director of the human genome sequencing centre at Baylor College of … Continue reading →

WASHINGTON (AP) Too often, newborns die of genetic diseases before doctors even know what's to blame. Now scientists have found a way to decode those babies' DNA in just days instead of weeks, moving gene-mapping closer to routine medical care. The idea: Combine faster gene-analyzing machinery with new computer software that, at the push of a few buttons, uses a baby's symptoms to zero in on the most suspicious mutations. The hope would be to start treatment earlier, or avoid futile care for lethal illnesses. Wednesday's study is a tentative first step: Researchers at Children's Mercy Hospital in Kansas City, Mo., mapped the DNA of just five children, and the study wasn't done in time to help most of them. But the hospital finds the results promising enough that by year's end, it plans to begin routine gene-mapping in its neonatal intensive care unit and may offer testing for babies elsewhere, too while further studies continue, said Dr. Stephen Kingsmore, director of the pediatric genome center at Children's Mercy. "For the first time, we can actually deliver genome information in time to make a difference," predicted Kingsmore, whose team reported the method in the journal Science Translational Medicine. Even if … Continue reading →

NEW YORK Scanning the DNA of sick infants using a new speed-reading method can diagnose rare genetic disorders in two days instead of weeks, according to research that brings gene mapping a step closer to everyday hospital use. Researchers at Children's Mercy Hospitals and Clinics in Kansas City, Mo., created software that takes raw data from DNA-scanning machines and combs though hundreds of genetic disorders to detect disease-causing mutations. The system provided likely diagnoses for three of four sick infants in about two days, results published in Science Translational Medicine found. The new method has the potential to make genome sequencing practical for neonatal-intensive-care units, enabling doctors to diagnose mysterious genetic diseases more quickly, said Stephen Kingsmore, director of the Center for Pediatric Genomic Medicine at Children's Mercy and a study senior author. Fast diagnoses of sick babies could lead to life-extending treatments sooner in some or help avoid futile, costly therapies in others. "This is the biggest breakthrough in this technology for clinical applications we have seen in a few years," said David Dimmock, a geneticist at the Medical College of Wisconsin and Children's Hospital of Wisconsin in Milwaukee, who wasn't involved in the study. "The ability to sequence … Continue reading →

KANSAS CITY, Mo., Oct. 3, 2012 /PRNewswire/ --Today investigators at Children's Mercy Hospitals and Clinics in Kansas City reported the first use of whole genome information for diagnosing critically ill infants. As reported in Science Translational Medicine, the team describes STAT-Seq, a whole genome sequencing approach - from blood sample to returning results to a physician - in about 50 hours. Currently, testing even a single gene takes six weeks or more. Speed of diagnosis is most critical in acute care situations, as in a neonatal intensive care unit (NICU), where medical decision-making is made in hours not weeks. Using STAT-Seq, with consent from parents, the investigators diagnosed acutely ill infants from the hospital's NICU. By casting a broad net over the entire set of about 3,500 genetic diseases, STAT-Seq demonstrates for the first time the potential for genome sequencing to influence 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," said Stephen Kingsmore, M.B. Ch.B., D.Sc., FRCPath, Director of the Center for Pediatric Genomic Medicine at Children's Mercy. "By obtaining an interpreted genome in about two days, physicians can make practical use of … Continue reading →

Medicine appears poised to begin sequencing the entire genetic scripts of newborn babies with serious illnesses, a revolutionary change that was set in motion three years ago when scientists and doctors in Wisconsin used a similar technique to diagnose and treat a young Monona boy with a mysterious illness. In a study released Wednesday in the journal Science Translational Medicine, researchers at Children's Mercy Hospitals and Clinics in Kansas City report that they used whole genome sequencing to diagnose babies born with serious genetic illnesses. Of the seven cases in which doctors used genome sequencing, six resulted in diagnoses. Moreover, researchers said a diagnosis can be returned as quickly as 50 hours after a blood sample is taken from a baby, an important finding given that many of the diseases that afflict infants require very rapid treatment. That's much faster than the four to six weeks it had taken previously to go from sequencing to diagnosis. Doctors at the Kansas City hospital said the test and accompanying analysis cost about $13,500 for each child and could present an appealing cost savings to health insurers. In the United States, thousands of babies each year with serious unknown diseases end up in … Continue reading →

For babies born with the rare genetic disorder phenylketonuria (PKU), their bodies are unable to break down a certain amino acid, which can lead to brain damage and seizures. If found early enough, however, PKU is easily treated, and children with the condition can go on to live a normal life. But sometimes, genetic testing for disorders such as this one come too late, and narrow windows of opportunity for treatment can close up for good. But now, parents and physicians can have answers regarding a babys genetic abnormalities in only a few short days. Researchers from Childrens Mercy Hospitals & Clinics in Kansas City, Mo., have developed a new whole-genome sequencing technology capable of diagnosing genetic disorders in ICU newborns in just 50 hours a significantly less amount of time than the 12 to 14 days needed for current screening techniques. The ability to diagnose infants in such a short amount of time could help to speed up available treatments as well as provide relief or knowledge to anxious parents. There are about 500 diseases that can present in a baby for which theres a treatment, Dr. Stephen Kingsmore, director of the Center for Pediatric Genomic Medicine at Childrens … Continue reading →