title: Mandatory versus voluntary consent for newborn screening?
abstract: Virtually every infant in the United States undergoes a heel stick within the first week of life to test for a variety of metabolic, endocrine, and hematological conditions as part of state-run universal newborn screening (NBS) programs. The history of this mandatory public health program is examined, as well as whether the policy was morally justifiable. Three changes in NBS practice necessitate a re-evaluation of the mandatory nature of NBS. First is the adoption of NBS for hemoglobinopathies in the 1980s that led to the identification of many sickle cell carriers and carriers of other hemoglobin variants. In all other contexts, carrier testing requires consent, and there is no moral rationale why NBS ought to be exceptional. Second is the application of tandem mass spectrometry (MS/MS) to NBS in the 1990s that led to the identification of many metabolic conditions and variants, some of which were not treatable and others of which had unknown clinical relevance. To the extent that the conditions do not need emergent diagnosis and treatment, there is less justification for mandatory screening. Third, there is great interest in using residual blood spots for research, and the cornerstone of research ethics is the voluntary consent of the participant (or his or her proxy). These three changes support revising mandatory NBS with a tiered consent process to best balance respect for parental autonomy and the promotion of children's health.
authors.affiliation: Department of Pediatrics, MacLean Center for Clinical Medical Ethics, University of Chicago, USA.
authors.forename: Lainie Friedman
authors.initials: LF
authors.lastname: Ross
mesh_terms: D032984:Ethics, Research; D006453:Hemoglobinopathies / Q000175:diagnosis / Q000266:history; D049673:History, 20th Century; D049674:History, 21st Century; D006801:Humans; D007231:Infant, Newborn; D007258:Informed Consent / Q000941:ethics* / Q000266:history; D018580:Mandatory Testing / Q000941:ethics* / Q000266:history; D015997:Neonatal Screening / Q000941:ethics* / Q000266:history; D010290:Parents; D026684:Personal Autonomy; D010661:Phenylketonurias / Q000175:diagnosis / Q000266:history; D011634:Public Health / Q000266:history; D053719:Tandem Mass Spectrometry; D014481:United States