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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Veröffentlicht in:Nature medicine 2024-07, Vol.30 (7), p.1823-1825
Hauptverfasser: Baple, Emma L., Scott, Richard H., Banka, Siddharth, Buchanan, James, Fish, Louise, Wynn, Sarah, Wilkinson, Dominic, Ellard, Sian, MacArthur, Daniel G., Stark, Zornitza
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Sprache:eng
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Zusammenfassung: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.
ISSN:1078-8956
1546-170X
1546-170X
DOI:10.1038/s41591-024-03055-x