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.
A recent AAAS seminar explored the potential consequences of direct-to-consumer genetic testing—and the appropriate role of government regulation—through the lens of two individuals who went through genetic testing.
Doctors could routinely use a new genetic test to screen couples for severe, recessively inherited diseases that they might pass to their offspring, says new research in Science Translational Medicine.
Combined with genetic counseling, this technology may reduce the incidence of severe recessive childhood diseases and help to speed up diagnosis of these disorders in newborns.