Published online February 29, 2008
PEDIATRICS Vol. 121 No. 3 March 2008, pp. e693-e704 (doi:10.1542/10.1542/peds.2007-0820)
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STATE-OF-THE-ART REVIEW ARTICLE

Ethical, Legal, and Social Concerns About Expanded Newborn Screening: Fragile X Syndrome as a Prototype for Emerging Issues

Donald B. Bailey, Jr, PhDa, Debra Skinner, PhDb, Arlene M. Davis, JDc, Ian Whitmarsh, PhDb and Cynthia Powell, MDd

a RTI International, Research Triangle Park, North Carolina
b FPG Child Development Institute
c Department of Social Medicine
d Department of Pediatrics, University of North Carolina, Chapel Hill, North Carolina

ABSTRACT

Technology will make it possible to screen for fragile X syndrome and other conditions that do not meet current guidelines for routine newborn screening. This possibility evokes at least 8 broad ethical, legal, and social concerns: (1) early identification of fragile X syndrome, an "untreatable" condition, could lead to heightened anxiety about parenting, oversensitivity to development, alterations in parenting, or disrupted bonding; (2) because fragile X syndrome screening should be voluntary, informed consent could overwhelm parents with information, significantly burden hospitals, and reduce participation in the core screening program; (3) screening will identify some children who are or appear to be phenotypically normal; (4) screening might identify children with other conditions not originally targeted for screening; (5) screening could overwhelm an already limited capacity for genetic counseling and comprehensive care; (6) screening for fragile X syndrome, especially if carrier status is disclosed, increases the likelihood of negative self-concept, societal stigmatization, and insurance or employment discrimination; (7) screening will suggest risk in extended family members, raising ethical and legal issues (because they never consented to screening) and creating a communication burden for parents or expanding the scope of physician responsibility; and (8) screening for fragile X syndrome could heighten discrepancies in how men and women experience genetic risk or decide about testing. To address these concerns we recommend a national newborn screening research network; the development of models for informed decision-making; materials and approaches for helping families understand genetic information and communicating it to others; a national forum to address carrier testing and the disclosure of secondary or incidental findings; and public engagement of scientists, policy makers, ethicists, practitioners, and other citizens to discuss the desired aims of newborn screening and the characteristics of a system needed to achieve those aims.

Key Words: newborn screening

Abbreviations: ACMG—American College of Medical Genetics • NBS—newborn screening • FXS—fragile X syndrome • FMRP—fragile X mental retardation protein • CF—cystic fibrosis • IDM—informed decision-making

Accepted Jul 16, 2007.


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