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Saving Babies?The Consequences of Newborn Genetic Screening$
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Stefan Timmermans and Mara Buchbinder

Print publication date: 2012

Print ISBN-13: 9780226924977

Published to Chicago Scholarship Online: September 2013

DOI: 10.7208/chicago/9780226924991.001.0001

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PRINTED FROM CHICAGO SCHOLARSHIP ONLINE (www.chicago.universitypressscholarship.com). (c) Copyright University of Chicago Press, 2019. All Rights Reserved. An individual user may print out a PDF of a single chapter of a monograph in CHSO for personal use.date: 18 October 2019

The Limits of Prevention

The Limits of Prevention

Chapter:
(p.152) chapter five The Limits of Prevention
Source:
Saving Babies?
Author(s):

Stefan Timmermans

Mara Buchbinder

Publisher:
University of Chicago Press
DOI:10.7208/chicago/9780226924991.003.0006

This chapter discusses the limits of prevention by focusing on the care of children who developed symptoms for metabolic disorders despite screening and early diagnosis. Newborn screening was designed to serve these symptomatic patients, and as such, they should constitute the best-case scenario for screening outcomes. These were the patients whom screening advocates had in mind when they lobbied policymakers for expansion, sharing tragic testimonies from families whose children were not fortunate enough to have had newborn screening. These were also the patients with whom the geneticists were most familiar, since symptomatic patients formed the bulk of clinical caseloads prior to newborn screening. As a result, their disease trajectories more closely reflected the knowledge base of medical genetics than their asymptomatic counterparts.

Keywords:   prevention, early diagnosis, symptomatic patients, best-case scenario, screening advocates, disease trajectories

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