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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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(p.65) chapter two Patients-in-Waiting
Saving Babies?

Stefan Timmermans

Mara Buchbinder

University of Chicago Press

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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