Abstract
Rare diseases are a leading cause of infant mortality and lifelong disability. To improve outcomes, timely diagnosis and effective treatments are needed. Genomic sequencing has transformed the traditional diagnostic process, providing rapid, accurate and cost-effective genetic diagnoses to many. Incorporating genomic sequencing into newborn screening programmes at the population scale holds the promise of substantially expanding the early detection of treatable rare diseases, with stored genomic data potentially benefitting health over a lifetime and supporting further research. As several large-scale newborn genomic screening projects launch internationally, we review the challenges and opportunities presented, particularly the need to generate evidence of benefit and to address the ethical, legal and psychosocial issues that genomic newborn screening raises.
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Related links
Baby Detect: https://babydetect.com/en/
BabyScreen+: http://www.babyscreen.mcri.edu.au
BabySeq: https://www.genomes2people.org/research/babyseq/
BeginNGS: https://radygenomics.org/begin-ngs-newborn-sequencing/
Early Check: https://earlycheck.org/news-and-outreach/newsroom/
GUARDIAN Study: https://guardian-study.org
International Consortium for Newborn Sequencing: https://www.iconseq.org
Newborn Genomes Programme, Genomics England: https://www.genomicsengland.co.uk/initiatives/newborns
Screen4Care (European Union): https://screen4care.eu
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Stark, Z., Scott, R.H. Genomic newborn screening for rare diseases. Nat Rev Genet 24, 755–766 (2023). https://doi.org/10.1038/s41576-023-00621-w
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DOI: https://doi.org/10.1038/s41576-023-00621-w
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