Infant DNA Tests Speed Diagnosis of Rare Diseases

An article in the New York Times written by Gina Kolata, discusses a new test that can be done on newborns to sequence their DNA and be able to determine if the infant carries any diseases and if it was by mutation.  This technique was first published in the magazine Science Translational Medicine. Doctors and scientists are able to take blood and pinpoint within hours any serious diseases and which chromosome they are on.  The article discusses an infant who from the second she was born, has seizure after seizure.  After keeping the baby sedated and intubated for five weeks, the family decided to take the baby off the machines and let her pass.  The doctors took samples of the infant's blood and ran this new test on it.  They were able to detect a very rare disease, only reported one other time, within 50 hours.  There was nothing doctors could have done to change the outcome, but they could have be able to counsel the family and prepared them for the inevitable.  With this test, early detection may be the key to saving lives or cushioning the families loss.