New controversial screening tests newborns for 1,800 conditions

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BOSTON — A trial is underway at Boston’s Brigham and Women’s Hospital that allows doctors to use genomic sequencing to screen newborn babies for about 18-hundred conditions. By testing babies long before they show symptoms, doctors hope to start treatment earlier allowing them to save lives and prevent suffering.

Kyle and Lauren Stetson had their daughter Cora tested after she was born. She’s one of the first healthy kids in America to have the test and doctors discovered she has a partial biotinidase deficiency — something that Cora showed no outward sign of having. Had it not been detected, it could have caused a permanent drop in her IQ.

Dr. Robert Green is the co-director of the Baby SEQ Project. He said the test allows them to potentially save a child’s life, but warned about the risks, including breaches of privacy and genetic discrimination.

“We can’t predict what kind of discrimination is going to be occurring by the time your child grows up,” he said. “We can’t predict whether there’s some sort of privacy breaches. And we, most importantly, can’t predict the information’s accurate.”

Many of the genetic variations that they find turn out to be harmless, and, even if not, most of the conditions Dr. Green’s team is looking for still have no cure.

Baby Cora is beating her condition thanks to a daily vitamin.Yet, about nine out of 10 families approached by Dr. Green have declined the testing.

“People are distrustful of information gathering. They’re hearing about all these break-ins and hacks.”

The genetic data collected by the Baby Seq study will be housed in an academic lab and participants consent to having it uploaded to a federal database for possible future research.

By law, every newborn in America gets a blood test for about 30 conditions, including Cystic Fibrosis and Sickle Cell Anemia.

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