New study validates usefulness of genomic medicine in children with neurologic disorders

December 03, 2014

Kansas City, Mo. -- December 3, 2014 -- Results from more than 100 families with children affected by a broad range of neurologic and developmental disorders who underwent genomic testing to end their quest for a diagnosis, were published today in Science Translational Medicine. This is the first study to show that a genome-based diagnostic approach directly impacts patient care of both infants and older children with neurologic disorders. Forty-five percent of families received a diagnosis by exome or genome sequencing, fifty percent of those diagnosed had a change in clinical impression or management and, in older children, genome-based diagnosis could have cut the wait for a diagnosis by more than six years. The study was led by Drs. Sarah Soden and Stephen Kingsmore of the Center for Pediatric Genomic Medicine at Children's Mercy Kansas City.

"We are striving to realize the benefits of genomic medicine in clinical care," said Dr. Soden. "These are exciting results that validate the promise of these technologies in children with a broad range of neurologic and developmental disorders. We've shown that genomic sequencing can end the diagnostic odyssey and have an immediate impact on patient care. Now we want to determine what kind of long-term impact that can have on a child's health and development; and how it impacts the family."

Eighty-five of the families studied had been seeking a diagnosis for their children for an average of six and a half years. They had spent an average $19,100 on prior tests that did not give a diagnosis. After exome or whole genome sequencing, forty percent of these children had a definitive diagnosis. Fifteen families in the study had infants with an acute medical condition at birth likely caused by a genetic disease; testing by rapid whole genome sequencing (STAT-Seq) enabled a diagnosis for seventy-three percent.

STAT-Seq test was one of TIME magazine's Top 10 Medical Breakthroughs of 2012 and is being developed in collaboration with Illumina, Inc. Still under research protocol, STAT-Seq is the fastest whole-genome test in the world, taking less than 50 hours from test order to delivery of an initial report.

In this study, half of the diagnoses affected the physician's impression of the patient's disorder or the clinical treatment plan. Physicians started new medications, discontinued treatments or supplements, and tested patients for complications associated with the genetic finding. Sequencing technologies not only identified known genetic diseases, but also new genetic diseases and previously unreported manifestations of known genetic disorders.
-end-
About Children's Mercy

Children's Mercy, located in Kansas City, Mo., is one of the nation's top pediatric medical centers. The 354-bed, not-for-profit 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." For the third time in a row, Children's Mercy has achieved Magnet nursing designation, awarded to fewer than seven percent of all hospitals nationally, for excellence in quality care. 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.

Children's Mercy Hospital

Related Genome Articles from Brightsurf:

Genome evolution goes digital
Dr. Alan Herbert from InsideOutBio describes ground-breaking research in a paper published online by Royal Society Open Science.

Breakthrough in genome visualization
Kadir Dede and Dr. Enno Ohlebusch at Ulm University in Germany have devised a method for constructing pan-genome subgraphs at different granularities without having to wait hours and days on end for the software to process the entire genome.

Sturgeon genome sequenced
Sturgeons lived on earth already 300 million years ago and yet their external appearance seems to have undergone very little change.

A sea monster's genome
The giant squid is an elusive giant, but its secrets are about to be revealed.

Deciphering the walnut genome
New research could provide a major boost to the state's growing $1.6 billion walnut industry by making it easier to breed walnut trees better equipped to combat the soil-borne pathogens that now plague many of California's 4,800 growers.

Illuminating the genome
Development of a new molecular visualisation method, RNA-guided endonuclease -- in situ labelling (RGEN-ISL) for the CRISPR/Cas9-mediated labelling of genomic sequences in nuclei and chromosomes.

A genome under influence
References form the basis of our comprehension of the world: they enable us to measure the height of our children or the efficiency of a drug.

How a virus destabilizes the genome
New insights into how Kaposi's sarcoma-associated herpesvirus (KSHV) induces genome instability and promotes cell proliferation could lead to the development of novel antiviral therapies for KSHV-associated cancers, according to a study published Sept.

Better genome editing
Reich Group researchers develop a more efficient and precise method of in-cell genome editing.

Unlocking the genome
A team led by Prof. Stein Aerts (VIB-KU Leuven) uncovers how access to relevant DNA regions is orchestrated in epithelial cells.

Read More: Genome News and Genome Current Events
Brightsurf.com is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to Amazon.com.