title: Ethical and policy issues in newborn screening of children for neurologic and developmental disorders.
abstract: Genetic testing for neurologic and developmental disorders spans the spectrum from universal newborn screening for conditions like phenylketonuria to diagnostic testing for suspected genetic conditions, to predictive genetic testing for childhood-onset conditions. Given that virtually all children in the United States undergo genetic screening in the newborn period, this article focuses on 3 actual case studies of neurologic and developmental disorders that have been included or proposed for inclusion in newborn screening programs: Duchenne muscular dystrophy (a neuromuscular disorder), Krabbe disease (a neurodegenerative disorder), and fragile X syndrome (a neurodevelopmental disorder).
authors.affiliation: Department of Pediatrics, University of Chicago, 5841 South Maryland Avenue, Chicago, IL 60637, USA; Department of Medicine, University of Chicago, 5841 South Maryland Avenue, Chicago, IL 60637, USA; Department of Surgery, University of Chicago, 5841 South Maryland Avenue, Chicago, IL 60637, USA. Electronic address: Lross@uchicago.edu.
authors.forename: Lainie Friedman
authors.initials: LF
authors.lastname: Ross
mesh_terms: D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics; D005820:Genetic Testing / Q000941:ethics*; D006801:Humans; D007231:Infant, Newborn; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis* / Q000235:genetics; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000235:genetics; D015997:Neonatal Screening / Q000941:ethics*; D014481:United States
keywords: Duchenne muscular dystrophy; Ethics; Fragile X syndrome; Genetic screening; Krabbe disease; Newborn screening; Public policy