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Letters |

Genomic Sequencing in Newborn Screening Programs

Wybo J. Dondorp, PhD; Guido M. W. R. de Wert, PhD; Martinus F. Niermeijer, MD, PhD
JAMA. 2012;307(20):2146. doi:10.1001/jama.2012.3621.
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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.

Clinical utility (ie, proven health benefit for the child through early detection or for the parents by providing information on the genetics of a childhood disorder) should be the basis for targeting diseases by NBS, and testing should not have more than minimal risks for the child.2 However, upholding these tenets may be difficult when NBS for specific diseases using next-generation sequencing technologies becomes a matter of exclusion rather than inclusion in the test panel. Some commentators have suggested that a full genome analysis of newborns serves their interests under the new paradigm of personalized medicine.3 Not only is this approach premature, it also ignores the child's right to decide to be tested for serious late-onset disorders at an appropriate age. Receiving such information too early may be harmful and violates the child's right to an open future by foreclosing the option of ignorance about this type of risk.4

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May 23, 2012
Siri Atma W. Greeley, MD, PhD; Michael E. Msall, MD; Kruti Acharya, MD
JAMA. 2012;307(20):1911-1912. doi:10.1001/jama.2012.3635.
May 23, 2012
Aaron J. Goldenberg, PhD, MPH; Richard R. Sharp, PhD
JAMA. 2012;307(20):1911-1912. doi:10.1001/jama.2012.3643.
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