Blog #6, Infant DNA Tests Speed Diagnosis of Rare Diseases, Sydney St.Pierre

This started because a 5 week old baby died because no matter what was tried for her, the seizures never stopped. Doctors are discovering a new way to scan a new borns DNA for mutations that are caused by genetic disorders and get results as quick as a couple days. This specific baby has a mutation that was not common and had not been seen more than 1 other time in a newborn baby. Dr. Joshua E. Petrikin was one of the doctors trying to help her said even if they woud have found what was wrong, they still could have not done much to save her life. One of the couples also has a son who was born with his heart on the opposite side. They are saying that what they found in the baby is a step towards the future because after some research they found other babies had the same thing happen to them, but no one ever had any sort of explanation about it. They still are unsure about what it causing these sort of problems such as skin missing over his eyebrows, and some blisters. There is ethical concern of if you go through your babies genes and finding problems that won't occur with them until they are adults and way down the road from where they are now while looking for symptoms of diseases that they could possibly have now. The test to scan your babies genes is about 13,500 and will show and uniformly fatal genetic disease the baby could be carrying. 

News Source: http://www.nytimes.com/2012/10/04/health/new-test-of-babies-dna-speeds-diagnosis.html?_r=1&pagewanted=1&ref=health