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SOURCE Children's Mercy Hospital
Researchers from Children's Mercy Hospital Present Findings at American Society of Human Genetics (ASHG) 63rd Annual Meeting
KANSAS CITY, Mo., Oct. 25, 2013 /PRNewswire/ -- Children's Mercy Hospitals and Clinics in Kansas City, Mo., announced today the availability of a cost-effective, broad genetic screen for use in the diagnosis of pediatric genetic diseases. Called TaGSCAN (Targeted Gene Sequencing and Custom Analysis), the test screens for more than 750 diseases that are the result of a single-gene defect. These diseases include muscular dystrophy, cystic fibrosis, polycystic kidney disease (PKD) and hundreds of diseases that have either been challenging to diagnose or for which no test has been available.
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TaGSCAN was developed by the Children's Mercy Center for Pediatric Genomic Medicine. It uses next-generation gene sequencing technology and proprietary software which allows a symptom-based analysis to diagnose genetic diseases. The test is highly sensitive and is performed on DNA extracted from a patient's blood sample.
"We are proud to offer this robust genetic test to children and families who, in many cases, have spent years seeking answers," said Stephen Kingsmore, MB ChB, DSc, FRCPath, Director of the Center for Pediatric Genomic Medicine at Children's Mercy. "With TaGSCAN, thousands of children will be able to receive faster diagnoses that enable better decision-making and prevent patients from being subjected to unnecessary treatments."
TaGSCAN is available to patients who have symptoms suggestive of a hereditary disease or for whom a diagnosis has been difficult to make. Any physician may order TaGSCAN, with results delivered in six to eight weeks. The test, which costs less than $3,200, is currently available to Children's Mercy patients and to referring physicians through the Center for Pediatric Genomic Medicine at Children's Mercy. Like all molecular genetic testing, insurance coverage varies by provider. In the near future, Children's Mercy plans to make the test available to hospitals and medical organizations around the nation. More information is available at www.childrensmercy.org/TaGSCAN.
Chat Live with Dr. Kingsmore
Dr. Kingsmore will discuss TaGSCAN and answer questions about pediatric genomics from medical professionals, media and the public via Twitter at 1 p.m. Central (2 p.m. Eastern) on Oct. 31 through the @ChildrensMercy account. Join the conversation by including #genomechat and @ChildrensMercy in tweets.
American Society of Human Genetics (ASHG) 63rd Annual Meeting
Proving the utility of this technology, a new study presented at the American Society of Human Genetics (ASHG) 63rd Annual Meeting, showed that the test can effectively find the cause of previously undiagnosed neurodevelopmental disorders in pediatric patients.
The platform presentation, "Utility of a Strategic Next Generation Sequencing Approach to Genomic Diagnosis of Patients with Neurodevelopmental Disorders," included results from a study of 107 patients with neurodevelopmental disorders, 40 of whom received new diagnoses, and 10 cases where the diagnosis was directly attributed to the initiation of new treatments, discontinuation of unnecessary medications, or the avoidance of invasive procedures.
"Our findings include real-world examples of how this new technology has impacted patient care," said lead investigator Sarah Soden, MD, Developmental and Behavioral Medicine. "By identifying the cause of previously undiagnosed diseases, we are giving families the answers they have been searching for – answers that will hopefully improve their children's lives."
The data were presented Oct. 25 at ASHG in Boston.
About Children's Mercy Hospital
Children's Mercy, located in Kansas City, Mo., is one of the nation's top pediatric medical centers. The 354-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" and recognized by the American Nurses Credentialing Center with Magnet designation for excellence in nursing services. 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 phone app CMH4YOU for all phone types. For 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 Medicine combines genome, computational and analytical capabilities to bring new diagnostic and treatment options to children with genetic diseases. As a leading researcher in pediatric genomic medicine, Stephen Kingsmore, M.B. Ch.B., D.Sc., FRCPath, was named to Medscape's Best Physicians list and his team's STAT-Seq test was one of TIME magazine's Top 10 Medical Breakthroughs of 2012. For more information about STAT-Seq, TaGSCAN, diagnostic tests and current research, visit www.pediatricgenomicmedicine.com.
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