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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

Shifting Disease Ontologies

Shifting Disease Ontologies

(p.97) chapter three Shifting Disease Ontologies
Saving Babies?

Stefan Timmermans

Mara Buchbinder

University of Chicago Press

This chapter introduces population-based screening programs as a technological catalyst. Such technological change agents are insufficient to consolidate new realities for diseases. Social scientists have noted that new disease categories require massive infrastructures needed to operationalize diseases as feasible clinical entities and link potential patients to diagnostic and treatment modalities. Throughout this process, the understanding of what the disease is—its natural history, severity, patient populations, and treatment response—and its possibilities for action are also transformed. As geneticists worked out what to tell those families whose screening results lingered in the borderland between true and false positives, they faced a related set of uncertainties about the nature of screened conditions that transcended the immediacy of individual patients and families.

Keywords:   population-based screening, social scientists, clinical entities, treatment modalities, geneticists

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