Infant DNA Tests Speed Diagnosis of Rare Diseases

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 [Hospital in Kansas City] and a study senior author
Secondly, to prioritize clinical information to help interpret the WGS data itself
Margaret Warner: When a critically ill infant is rushed to the neonatal intensive care unit, it can take weeks for doctors to determine which genetic mutation may be endangering the baby’s life.
Having this kind of fast analysis for the new born babies is a big and tremendous achievement, gaining results only in days not weeks; unfortunately, some of this new technology cannot be applied to all.
Sorting through millions of variations in a baby’s genes to come up with a diagnosis has been a time-consuming process.
To wit: each of the seven babies whose genome was analyzed for the study is now dead.

Friday, October 5, 2012