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Genomic newborn screening for rare diseases

Nature Reviews Genetics volume 24, pages 755–766 (2023)Cite this article

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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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Fig. 1: Large-scale genomic newborn screening studies launching internationally.
Fig. 2: The impact of genomic sequencing on rare disease diagnosis and treatment.
Fig. 3: Stages in newborn screening programmes.

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Authors and Affiliations

  1. Australian Genomics, Melbourne, Victoria, Australia

    Zornitza Stark

  2. Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne, Victoria, Australia

    Zornitza Stark

  3. Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia

    Zornitza Stark

  4. Great Ormond Street Hospital for Children, London, UK

    Richard H. Scott

  5. UCL Great Ormond Street Institute of Child Health, London, UK

    Richard H. Scott

  6. Genomics England, London, UK

    Richard H. Scott

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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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