title: Expanded newborn screening: social and ethical issues.
abstract: Newborn screening and genetic testing have expanded rapidly in the last decade with the advent of multiplex (e.g., tandem mass spectrometry) and/or DNA technologies. However, screening panels include a large number of disorders, which may not meet all of the traditional screening criteria, established in late 1960s, and used for years to justify screening programs. After a period of expansion driven by technological advances, many reports have reconsidered the justification of expanded programs. Many factors have contributed to test-panel discrepancies between countries. The test-panel review methodology, the way health benefits are weighed against harms, and the socioeconomic-political environment all play a role. Expansion of screening also requires reconsideration of the infrastructure (ideally, in the context of national plans for rare diseases) to support testing, counselling, education, treatment, and follow-up. Consequently, economic aspects cannot be ignored and can be a limitation for expansion. New ethical questions have emerged: risks of discrimination or stigmatization, respect of the autonomy of persons to make decisions, parental anxiety resulting from a false positive test (especially when reporting to parents screening results for untreatable conditions identified as by-products of screening), etc. For disorders where there is not yet confirmation of benefit, it may be prudent to recommend pilot screening and to have a mechanism that can be used to adapt or even to stop a program.
authors.affiliation: AFDPHE (French Association for Neonatal screening) and Laboratoire, Hôpital StPhilibert, 115 rue du grand but., Lomme cedex, France. Dhondt.jeanlouis@ghicl.net
authors.forename: Jean-Louis
authors.initials: JL
authors.lastname: Dhondt
mesh_terms: D001007:Anxiety; D005189:False Positive Reactions; D006801:Humans; D007231:Infant, Newborn; D007258:Informed Consent; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000628:therapy; D015997:Neonatal Screening / Q000009:adverse effects / Q000191:economics / Q000941:ethics*; D010290:Parents / Q000523:psychology; D011237:Predictive Value of Tests; D011287:Prejudice; D011379:Prognosis; D035583:Rare Diseases / Q000175:diagnosis* / Q000628:therapy; D018570:Risk Assessment; D012307:Risk Factors; D012919:Social Behavior; D013240:Stereotyping