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Exploring the benefits, harms and costs of genomic newborn screening for rare diseases

The prospect of genomic screening in newborns attracts both hype and criticism, but carefully designed, large-scale, prospective research studies are the only way to generate the data needed for its rigorous evaluation.

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Correspondence to Emma L. Baple, Richard H. Scott or Zornitza Stark.

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Competing interests

D.G.M. receives consulting fees as advisory board member for GlaxoSmithKline, Insitro and Foresite Labs. J.B. has received travel support from Illumina and consultancy fees from Genomics England.

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Baple, E.L., Scott, R.H., Banka, S. et al. Exploring the benefits, harms and costs of genomic newborn screening for rare diseases. Nat Med 30, 1823–1825 (2024). https://doi.org/10.1038/s41591-024-03055-x

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