Forbes July 27, 2023
William A. Haseltine

Early detection and diagnosis of inherited conditions in newborns and infants can lead to more effective therapies and better health outcomes. A growing number of devastating childhood diseases now have targeted treatments, including gene and cell therapies, that can offer permanent prevention or cures. With these developments, the implementation of newborn DNA sequencing has taken on greater urgency.

A new national study from Tufts Medical Center in Boston has found whole genome sequencing to be nearly twice as effective as a targeted gene sequencing test at identifying abnormalities responsible for genetic disorders in newborns and infants.

The study was conducted at six US hospitals from June 2019 to November 2021 and enrolled 400 newborns and infants under the age of...

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