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May 23/30, 2012

Genomic Sequencing in Newborn Screening Programs

Author Affiliations

Author Affiliations: Department of Health, Ethics, and Society, Maastricht University, Maastricht, the Netherlands (Drs Dondorp and de Wert) (w.dondorp@maastrichtuniversity.nl); and Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands (Dr Niermeijer).

JAMA. 2012;307(20):2146. doi:10.1001/jama.2012.3621

To the Editor: Drs Goldenberg and Sharp1 expressed concerns about introducing next-generation sequencing into state newborn screening (NBS) programs in the United States. Some proposals involve complete sequencing and storage of raw data and only analysis of the genes involved in the diseases selected for NBS. This would entail costly storage of unused data.

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