Recent study shows that genetic screening in new born babies may be useful. Among the subset of 159 babies tested, several potentially disease-causing mutations were seen. It is however still unclear how much information the parents or the babies received from the testing. A baby was discovered to have vitamin deficiency; another was seen to be more prone to cancer while others may be more at risks of heart diseases in the future. Although researchers do not recommend genetic testing for wide general public yet, they believe that it may be helpful to some. Dr. Robert Green said that while genetic screening identifies kids at risk, many of whom may never actually be ill in the future; it also gives those kids a shot at getting treated and leading healthy lives. Dr. Green and his colleagues are testing newly-born babies for almost 5,000 genetic variations that are likely to cause diseases. Their work is a part of BabySeq project.
A little more than 9% of babies tested could develop heart or hearing defects in their childhood. 2-year-old Cora Stetson was seen to be deficient in biotin. Her mother Lauren seemed thankful as discovery of her daughter’s condition saved her from a life of decreased vision, troubled hearing and other cognitive problems. However some cases were fuzzier. A baby with respiratory distress was seen to have mutations linked to Lynch syndrome, meaning an increased risk of cancer. Another baby with narrow heart artery was discovered to have mutations linked to RBC disorder. Heather Zierhut pointed out how the study did not answer all questions and left some unanswered. Dr. Wendy Chung said that genetic screening is not necessary at the moment. Green said that the more babies are opened to genetic screening, the more DNA mutations will be discovered. This might lead to excessive and unnecessary medical intervention.
The babies tested will be followed for several years to see how their conditions affect them in the future, if they do.