News: News Archives Science Translational Medicine: High-Speed
Test Can Diagnose Genetic Disorders in Newborns New whole-genome
sequencing technology can diagnose genetic disorders in newborn
babies in intensive care units in just a few days, according a
new study appearing in the 3 October issue of the journal
Science Translational Medicine. The technique’s main
revolutionary feature is speed—a 50-hour turnaround time for
genetic results compared to the few weeks needed using current
methods. The genetic test could potentially shorten the time it
takes to get a diagnosis, jumpstart any available treatments,
and lessen the time to genetic counseling for anxious parents.
“These programs help us answer the question of what genes we
should be looking at, what parts of the genome are relevant to
the symptoms that a patient has, and what should we look at in
more detail,” said Neil Miller, director of informatics at the
Center for Pediatric Genomic Medicine at Children’s Mercy
Hospital, during a 2 October teleconf