title: Ethical, legal, and social concerns about expanded newborn screening: fragile X syndrome as a prototype for emerging issues.
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.
authors.affiliation: RTI International, 3040 Cornwallis Rd, Research Triangle Park, NC 27709-2194, USA. dbailey@rti.org
authors.forename: Donald B
authors.initials: DB
authors.lastname: Bailey
authors.forename: Debra
authors.initials: D
authors.lastname: Skinner
authors.forename: Arlene M
authors.initials: AM
authors.lastname: Davis
authors.forename: Ian
authors.initials: I
authors.lastname: Whitmarsh
authors.forename: Cynthia
authors.initials: C
authors.lastname: Powell
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis; D004992:Ethics, Medical; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis*; D005820:Genetic Testing / Q000592:standards* / Q000639:trends; D006801:Humans; D007231:Infant, Newborn; D007258:Informed Consent / Q000941:ethics* / Q000331:legislation & jurisprudence*; D008297:Male; D015997:Neonatal Screening / Q000592:standards* / Q000639:trends; D012922:Social Change; D014481:United States