Policy ForumMedicine

Newborn Screening: Gaps in the Evidence

Science  11 Oct 2013:
Vol. 342, Issue 6155, pp. 197-198
DOI: 10.1126/science.1243944

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This year marks the 50th anniversary of mass newborn screening. Newborn screening is becoming more important, with new treatments, new technologies for detection of marker compounds, and cheaper ways to sequence the genome. But it has also become more controversial, demanding renewed discussion about the aims of newborn screening and whether it should still be directed, as at present, to ameliorating only disorders manifest in childhood.