Too often, newborns die of genetic diseases before doctors even know what is to blame. Now scientists have found a way to decode those babies’ DNA in just days instead of weeks, moving gene-mapping closer to routine medical care.
The idea: Combine faster gene-analyzing machinery with new computer software that, at the push of a few buttons, uses a baby’s symptoms to zero in on the most suspicious mutations. The hope would be to start treatment earlier, or avoid futile care for lethal illnesses. Wednesday’s study is a tentative first step: Researchers at Children’s Mercy Hospital in Kansas City, Missouri, mapped the DNA of just five children, and the study wasn’t done in time to help most of them. But the hospital finds the results promising enough that by year’s end, it plans to begin routine gene-mapping in its neonatal intensive care unit—and may offer testing for babies elsewhere, too—while further studies continue, said Dr. Stephen Kingsmore, director of the pediatric genome center at Children’s Mercy. “For the first time, we can actually deliver genome information in time to make a difference,” predicted Kingsmore, whose team reported the method in the journal Science Translational Medicine.