May 8, 2012

Duke-led Team Reports on Clinical Exome Sequencing Pilot Project

NEW YORK (GenomeWeb News) – Researchers from Duke University and the University of Michigan successfully diagnosed around half of the individuals that they tested during a pilot study on the use of clinical exome sequencing, according to a study set to come out online this week in theJournal of Medical Genetics.
"There are an awful lot of kids who go through a very, very long process to try to find the genetic diagnosis and don't end up with one," senior author David Goldstein, director of Duke's Center for Human Genome Variation, told GenomeWeb Daily News. "The question is whether a lot of those kids could end up with a genetic diagnosis through either whole-exome or whole-genome sequencing."
Based on their findings so far, Goldstein and his co-authors argued that "the application of [next-generation sequencing] should be strongly considered in all cases where a genetic condition is strongly suspected but traditional clinical genetic testing has proven negative."

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