Genetic screening for newborns yields some answers, more questions

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By Maggie Fox, Ali Galante and Kori Lynch

A big experiment aimed at finding out if it pays off to screen newborns for hundreds of potential genetic diseases has come back with an answer: maybe.

Researchers say they found an unexpectedly high number of potentially disease-causing mutations in a subset of 159 babies they tested. What they don’t know is how much useful information the testing provided for the babies or their parents.

One baby turned out to have a vitamin deficiency. Another, in the neonatal intensive care unit with respiratory distress, carried a gene that raises the risk of cancer. Still others carried hard-to-interpret genes that may raise the risk of heart disease in years to come.

The researchers taking part in the study say it’s too soon to recommend such wide genetic testing for the general public. But they say their findings suggest that in some cases, and for some people, it may be worth doing.

“This is a kind of glass half full, glass half empty situation. On one hand, you are identifying those babies as at-risk and we know many of them will never develop the disease in question,” said Dr. Robert Green, a professor of medicine at Harvard Medical School and Brigham and Women’s Hospital, who worked on the study.

“On the other side, you’re identifying disease risks which are actually actionable, you can do something about. So these babies can be monitored … and you can actually look for these conditions and try to prevent them or mitigate them,” Green told NBC News.