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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, 2020. All Rights Reserved. An individual user may print out a PDF of a single chapter of a monograph in CHSO for personal use.date: 05 April 2020

Patients-in-Waiting

Patients-in-Waiting

Chapter:
(p.65) chapter two Patients-in-Waiting
Source:
Saving Babies?
Author(s):

Stefan Timmermans

Mara Buchbinder

Publisher:
University of Chicago Press
DOI:10.7208/chicago/9780226924991.003.0003

This chapter shows that the expansion of newborn screening has paradoxically launched some families onto diagnostic odysseys of an entirely different sort. Rather than diagnosing asymptomatic patients with clear-cut diseases, expanded newborn screening identified a distinct group of newborns with screening values lying outside a preset normal range that did not always clearly correlate with defined disease categories. We refer to these patients as patients-in-waiting because they hovered for extended periods of time under medical attention between sickness and health, or more precisely, between pathology and an undistinguished state of “normality.” A patient-in-waiting was treated as a patient in the medical encounter, but it was not always clear whether anything was wrong. The major issue facing a newborn patient-in-waiting was not only whether the baby would develop a metabolic disorder but also whether the screened condition was actually a disease.

Keywords:   newborn screening, diagnostic odysseys, asymptomatic patients, clear-cut diseases, disease categories, patients-in-waiting

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