National Reports • Sep 2008 • Genetics • Storing and Using Newborn DNA—Without Parent Consent • Population Health Care

The Untold PKU Story Challenges Newborn Screening Mandate

Newborn screening advocates often refer to the newborn PKU (phenylketonuria) test as evidence of the benefit of screening—and as a rationale for compulsory testing of newborns nationwide. However, a brief look into the history of PKU testing challenges these assertions. Inaccurate test results, harmed children, untested treatments, and an increase in mental retardation mark the untold PKU story.

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