title: Screening for conditions that do not meet the Wilson and Jungner criteria: the case of Duchenne muscular dystrophy.
abstract: In this manuscript, I examine four overlapping policy and ethical issues regarding screening newborns (and infants) for Duchenne muscular dystrophy (DMD). First, what are the risks and benefits of expanding newborn screening (NBS) to include DMD? Second, if NBS were to expand to include DMD, should it require informed consent? Third, should NBS for DMD be limited to boys? Why or why not? Fourth, when is the ideal timing for screening (prenatal, newborn, or later in infancy) and what factors influence this determination? I argue that decisions about when, how, and whom to test reflect a tension between maximizing uptake and diagnosis versus maximizing autonomy and choice with respect to genetic information. I conclude that screening for DMD is a valid moral option, but not as part of the mandatory NBS population program. Rather, I propose that screening for DMD should be offered only on a voluntary basis beyond the newborn period. I support offering this screening to families of young boys and girls to ensure that all children and their families can benefit from early diagnosis and its reproductive implications. A rigorous consent process will be necessary to ensure that the decision whether or not to test is a voluntary and informed choice.
authors.affiliation: Department of Pediatrics, Section of General Pediatrics, University of Chicago, Illinois 60637, USA. lross@uchicago.edu
authors.forename: Lainie Friedman
authors.initials: LF
authors.lastname: Ross
mesh_terms: D005820:Genetic Testing / Q000941:ethics / Q000592:standards*; D006801:Humans; D007231:Infant, Newborn; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D015997:Neonatal Screening / Q000941:ethics / Q000592:standards*; D012737:Sex Factors