Although newborn screening has been a public health activity for >40 years, technological advances are beginning to reshape these programs.1–3 In particular, states have begun to use tandem mass spectrometry (MS/MS), a technology that measures metabolic analytes that allow for the detection of dozens of disorders.3–6 A new report from the American College of Medical Genetics (ACMG) commissioned by the Maternal and Child Health Bureau of the Health Resources and Services Administration (HRSA) has proposed that 29 conditions be included in a uniform newborn-screening condition panel, including nonmetabolic disorders.7 As a result, several states have moved forward with the recommended core panel. In addition, there have been proposals by others to screen for conditions such as fragile X syndrome and Duchenne muscular dystrophy.8,9
We suggest that such proposals to expand newborn screening represent a paradigm shift in how newborn screening...
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