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

^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

This article has been cited by other articles:

				D. B. Bailey Jr, F. D. Armstrong, A. R. Kemper, D. Skinner, and S. F. Warren Supporting Family Adaptation to Presymptomatic and "Untreatable" Conditions in an Era of Expanded Newborn Screening J. Pediatr. Psychol., March 30, 2008; (2008) jsn032v1. [Abstract] [Full Text] [PDF]

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