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Mobilizing MutationsHuman Genetics in the Age of Patient Advocacy$
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Daniel Navon

Print publication date: 2019

Print ISBN-13: 9780226638096

Published to Chicago Scholarship Online: May 2020

DOI: 10.7208/chicago/9780226638126.001.0001

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Remaking the Normal versus the Pathological in Genetic Medicine

Remaking the Normal versus the Pathological in Genetic Medicine

(p.239) Seven Remaking the Normal versus the Pathological in Genetic Medicine
Mobilizing Mutations

Daniel Navon

University of Chicago Press

Genetic mutations often affect people in ways that are too complex or subtle to be captured by existing categories from fields like medicine and psychiatry. This chapter therefore explores the way human genetics is beginning to upend longstanding systems of classification and measurement. Experts are increasingly using techniques like endo- or deep phenotyping to find subtle forms of variation, and they are turning towards quantitative spectra rather than dichotomous traits. Today, a genetic mutation can remake the very distinction between the normal and the pathological in areas like psychiatry and childhood growth. For example, when someone with highly-educated parents and XYY or a 16p11.2 microdeletion has an IQ of 87—well above the threshold of ≤70 for intellectual disability—they may still be considered affected by their genetic mutation. More and more, experts and advocates argue that a patient should not be denied care and services just because their phenotype does not reach some arbitrary clinical cutoff. Even some "carrier" genes, notably the common Fragile X premutation, are being recast as mild genetic disorders in their own right. These developments have far-reaching implications for the scope of medical genetics, overburdened healthcare systems, and the reproduction of social inequality.

Keywords:   medical genetics, normal vs. pathological, classification, endophenotyping, deep phenotyping, 16p11.2, 22q11.2, carrier genes, Fragile X premutation, IQ

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