Mobilizing Mutations: Human Genetics In The Age Of Patient Advocacy

409 Pages·2019·4.12 MB·English

by  Daniel Navon

Mobilizing Mutations

Mobilizing
Mutations
Human Genetics in the
Age of Patient Advocacy
DANIEL NAVON
The University of Chicago Press Chicago and London
The University of Chicago Press, Chicago 60637
The University of Chicago Press, Ltd., London
© 2019 by The University of Chicago
All rights reserved. No part of this book may be used or reproduced
in any manner whatsoever without written permission, except
in the case of brief quotations in critical articles and reviews.
For more information, contact the University of Chicago Press,
1427 E. 60th St., Chicago, IL 60637.
Published 2019
Printed in the United States of America
28 27 26 25 24 23 22 21 20 19 1 2 3 4 5
ISBN-1 3: 978- 0-2 26- 63809- 6 (cloth)
ISBN-1 3: 978- 0-2 26- 63812-6 (e-b ook)
DOI: https://d oi. org/ 10. 7208/c hicago/9 780226638126. 001. 0001
Library of Congress Cataloging-in-Publication Data
Names: Navon, Daniel, author.
Title: Mobilizing mutations : human genetics in the age of patient
advocacy / Daniel Navon.
Description: Chicago : The University of Chicago Press, 2019. |
Includes bibliographical references and index.
Identifi ers: LCCN 2019009779 | ISBN 9780226638096 (cloth :
alk. paper) | ISBN 9780226638126 (e-book)
Subjects: LCSH: Human chromosome abnormalities. | Medical
genetics. | Human genetics. | Mutation (Biology)
Classifi cation: LCC RB155.5 .N38 2019 | DDC 616/.042—dc23
LC record available at https://lccn.loc.gov/2019009779
This paper meets the requirements of ANSI/NISO Z39.48- 1992
(Permanence of Paper).
for Claire Bear

Contents
Acknowledgments ix
Introduction: From Mutations to New Kinds of People 1
1 Genomic Designation: How Genetics Creates
New Medical Conditions 29
2 Immobile Mutations: Nowhere to Go in the 1960s and
1970s (and the Exception That Proves the Rule) 60
3 Leveraging Mutations: Going from the Rare to the Common
in Human Genetics 97
4 The Loops That Tie: Mutations in the Trading Zone of
Autism Genetics 134
5 Assembling a New Kind of Person 171
6 Mutations in the Clinic: Reframing Illness and
Redirecting Medical Practice 206
7 Remaking the Normal versus the Pathological in
Genetic Medicine 239
8 The Future for Genomic Designation and the New Prenatal
Testing Landscape 275
Conclusion 306
Notes 315
References 335
Index 383

Acknowledgments
The fi rst note of thanks goes to the many researchers, cli-
nicians, caregivers, and patient advocates who took the
time to share their perspectives and their stories with me.
Above all, I am enormously grateful for the opportunity
to meet so many people and families dealing with the ge-
netic conditions discussed in this book. Although I was
not able to formally interview patients themselves, spend-
ing time with them and their families enriched my think-
ing and my understanding immeasurably. I hope that
this book helps open the door for research that directly
addresses their perspectives and starts to unpack impor-
tant policy questions about the way our knowledge about
genetic mutations is shaping their lives.
I am grateful for research support from the Robert
Wood Johnson Foundation, the UC San Diego Hellman
Fellows Program, and the Binational Science Foundation.
In addition, Columbia’s Mellon Foundation Fellows Pro-
gram and Lindt and Lazarsfeld Fellowships, as well as its
Institute for Social and Economic Research and Policy and
Department of Sociology, provided crucial support at an
earlier stage of this project.
Various parts of this book were presented at dozens of
conferences, workshops, and talks over the years— thank
you to everyone who posed challenging questions or pro-
vided helpful feedback. Parts of chapter 1 were published
in much earlier form as follows: Daniel Navon, “Genomic
Designation: How Genetics Can Delineate New, Pheno-
typically Diffuse Medical Categories,” Social Studies of Sci-
ence 41, no. 2 (2011): 203– 26; and Daniel Navon and Uri
ix