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1 results

  • 8 - Newborn Screening

  • Edited by Geoffrey Miller , Yale University, Connecticut
  • Book:
    Pediatric Bioethics
    Published online:
    07 May 2010
    Print publication:
    23 November 2009, pp 111-124

  • Summary

    This chapter begins with a short discussion of the controversies surrounding the passage of mandatory phenylketonuria (PKU) screening. The paradigm shift from public health emergency to public health service would allow for the inclusion of conditions for which there is no known effective therapy and for the inclusion of conditions that present later in childhood. The chapter uses the case of newborn screening (NBS) for Duchenne muscular dystrophy as a case study. It discusses issues about storage of Guthrie cards and their use for research. The chapter examines the issue of informed consent for NBS and how this may be affected by whether the appropriate paradigm for NBS is a public health emergency or a public health service, whether screening identifies and discloses genetic carrier information, and whether samples can be used for nonclinical purposes.