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Expansion and Implications of Newborn Screening

  • Clinical Genetics (JM Stoler, Section Editor)
  • Published:
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Abstract

Newborn screening (NBS) for phenylketonuria in the early 1960s represented a veritable revolution in public health. It added population screening for prevention of intellectual disability to public health that had been limited to testing and epidemiological follow-up of infectious diseases. Over time, NBS has progressively expanded with additional metabolic and non-metabolic disorders in which early pre-symptomatic detection allows prevention of developmental disability or death. NBS continues to evolve with programs in development to screen for an unprecedented number of conditions. Previously, untreatable conditions, such as Duchenne muscular dystrophy and Fragile X syndrome, have new treatments emerging and are now under debate for screening. The criteria of Wilson and Jungner, previously used to justify screening, are being applied to technologies that allow far more screening options than when these criteria were developed. Genomic and DNA-based NBS could accelerate expansion, though with serious challenges related to cost, ethics, infrastructure, and education.

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Disclosure

F. Rajiabi and H. L. Levy both declare no conflicts of interest.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.

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Authors and Affiliations

  1. Division of Genetics and Genomics, Boston Children’s Hospital, 300 Longwood Ave, Hunnewell 5, Boston, MA, 02115, USA

    Farrah Rajabi

  2. Division of Genetics and Genomics, Boston Children’s Hospital, One Autumn Street, Room 526.1, Boston, MA, USA

    Harvey L. Levy

  3. Department of Pediatrics, Harvard Medical School, Boston, MA, 02115, USA

    Harvey L. Levy

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  1. Farrah Rajabi
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  2. Harvey L. Levy
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Correspondence to Harvey L. Levy.

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This article is part of the Topical Collection on Clinical Genetics.

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Rajabi, F., Levy, H.L. Expansion and Implications of Newborn Screening. Curr Genet Med Rep 3, 110–117 (2015). https://doi.org/10.1007/s40142-015-0070-1

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