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.
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.