Could newborn DNA testing become routine?

[CNN, 1/8/19]  Every baby born in the United States is given a routine blood test to screen for dozens of inherited medical conditions. Now, the U.S. National Institutes of Health is exploring whether to use DNA sequencing to screen newborn babies for additional genetic abnormalities and disorders. Such DNA testing would likely complement, but not replace, the current routine blood tests.

However, before routine genetic screening of infants even approaches reality, many questions need answers, including whether genetic sequencing can accurately identify babies who will develop a disease, according to Dr. Joseph A. Bocchini Jr., chairman of the Advisory Committee on Heritable Disorders in Newborns and Children. The committee evaluates scientific evidence and makes recommendations to the secretary of the Department of Health and Human Services, which in turn provides a recommended uniform screening panel for newborns to the states.

The field is evolving swiftly, Bocchini told CNN: “It’s clear the data is becoming available quite quickly, so potential changes [to the recommended uniform screening panel] may occur within the next few years. But it’s too early to say.”
More clarity is also needed on issues surrounding newborn DNA testing, including consent, accessibility, data privacy and the potential changes to medical practice and costs.

Published Thursday in the American Journal of Human Genetics, one of the several NIH-sponsored scientific studies found that 9.4% of the 159 sequenced babies participating in the research had mutations predictive of a genetic condition or disease.
“The question, though, is: ‘Do we really think that all these babies are going to get sick in the future based on what we found?’ ” said Alan Beggs, co-author of the study and director of the Manton Center for Orphan Disease Research at Boston Children’s Hospital. “And the answer is, ‘Probably not.’ “……………….

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