title: Dangerous and expensive screening and treatment for rare childhood diseases: the case of Krabbe disease.
abstract: Public policy surrounding newborn screening is in flux. New technology allows more screening for more diseases at lower cost. Traditional criteria for target diseases have been criticized by leading health policymakers. The example of newborn screening for Krabbe disease highlights many of the dilemmas associated with population-based screening programs. Krabbe is difficult to diagnose, variable in its natural history, and does not always respond to treatment. The only available treatment is hematopoietic stem cell transplantation, which is expensive, risky, and of uncertain efficacy. This article analyzes the debate about Krabbe as an example of the sorts of debates that will likely arise for many more diseases over the next decade. I conclude that pilot programs in pioneer states should be carefully evaluated before testing for Krabbe is universalized.
authors.affiliation: Department of Pediatrics, University of Missouri, Kansas City, Missouri; Children's Mercy Bioethics Center, Children's Mercy Hospital, Kansas City 64108, Missouri. jlantos@cmh.edu
authors.forename: John D
authors.initials: JD
authors.lastname: Lantos
mesh_terms: D001294:Attitude to Health; D003362:Cost-Benefit Analysis; D018380:Hematopoietic Stem Cell Transplantation / Q000009:adverse effects* / Q000191:economics*; D006801:Humans; D007231:Infant, Newborn; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis* / Q000628:therapy; D015997:Neonatal Screening / Q000191:economics* / Q000639:trends; D009518:New York; D010290:Parents / Q000523:psychology; D015397:Program Evaluation; D035583:Rare Diseases / Q000175:diagnosis* / Q000628:therapy