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Newborn Screening and Genetic Testing

Authors

  • Carole Kenner RNC, DNS,

    Corresponding author
    1. Carole Kenner, RNC, DNS, FAAN, is the Dean and Professor at the University of Oklahoma Health Sciences Center College of Nursing, Oklahoma City, OK.
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  • Maribeth Moran RN, MSN

    1. Maribeth Moran, RN, MSN, CPN, is an Assistant Professor at the University of Oklahoma College of Nursing, Oklahoma City, OK.
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Carole Kenner, RNC, DNS, FAAN, Dean/Professor, University of Oklahoma Health Sciences Center, College of Nursing, 1100 North Stonewall Avenue, Oklahoma City, OK 73117. E-mail: Carole-Kenner@ouhsc.edu

Abstract

New screening techniques and diagnostic tests for genetic diseases available for newborn screening can provide information about many diseases long before they are clinically detected. However, this information creates complex questions and ethical dilemmas regarding which newborns should be tested, when testing should occur, availability and costs of tests, and how families should be counseled. There is no national policy regarding newborn screening, which leads to great variation among states'newborn screening programs. This article reviews newborn genetic testing and provides a blueprint for clinicians to improve practice by incorporating into their care knowledge of new developments in newborn testing and screening.

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