Mobilizing Mutations

Human Genetics in the Age of Patient Advocacy

Cloth $40.00 ISBN: 9780226638096 Published September 2019

E-book $10.00 to $40.00 About E-books ISBN: 9780226638126 Published September 2019

With every passing year, more and more people learn that they or their young or unborn child carries a genetic mutation. But what does this mean for the way we understand a person? Today, genetic mutations are being used to diagnose novel conditions like the XYY, Fragile X, NGLY1 mutation, and 22q11.2 Deletion syndromes, carving out rich new categories of human disease and difference. Daniel Navon calls this form of categorization “genomic designation,” and in Mobilizing Mutations he shows how mutations, and the social factors that surround them, are reshaping human classification.

Drawing on a wealth of fieldwork and historical material, Navon presents a sociological account of the ways genetic mutations have been mobilized and transformed in the sixty years since it became possible to see abnormal human genomes, providing a new vista onto the myriad ways contemporary genetic testing can transform people’s lives.

Taking us inside these shifting worlds of research and advocacy over the last half century, Navon reveals the ways in which knowledge about genetic mutations can redefine what it means to be ill, different, and ultimately, human.

Table of Contents

Contents
Review Quotes

Contents

Acknowledgments

Introduction: From Mutations to New Kinds of People

1              Genomic Designation: How Genetics Creates New Medical Conditions
2              Immobile Mutations: Nowhere to Go in the 1960s and 1970s (and the Exception That Proves the Rule)
3              Leveraging Mutations: Going from the Rare to the Common in Human Genetics
4              The Loops That Tie: Mutations in the Trading Zone of Autism Genetics
5              Assembling a New Kind of Person
6              Mutations in the Clinic: Reframing Illness and Redirecting Medical Practice
7              Remaking the Normal versus the Pathological in Genetic Medicine
8              The Future for Genomic Designation and the New Prenatal Testing Landscape

Conclusion

Notes
References
Index

Review Quotes

Steven Epstein, author of Inclusion: The Politics of Difference in Medical Research

"What does it mean to ‘mobilize’ mutations? In his crystal clear and compelling analysis, Navon reveals the potent intertwining of medical breakthroughs with new ways of imagining who we are, how we are connected to others, what diseases we suffer from, and how we should best be cared for. This is a first-rate study of scientific and cultural changes on a topic of ever-growing significance."

Alberto Cambrosio, McGill University

"Full of fascinating insights and arguments, Mobilizing Mutations breaks new intellectual and conceptual ground without departing from its solid empirical foundations. Exploring the nexus between biomedical research and patient advocacy as a key to the analysis of the emergence of ‘genomic designations,’ i.e., pathological syndromes that are de novo defined by genomic analysis rather than pre-existing clinical symptoms, the book chronicles the accretion of new patient populations—new kinds of people. Far from merely complementing the work of others, Navon takes us in unexpected directions, as epitomized by the notion of reiterated fact making that casts objects of knowledge at the center of his combined sociological, historical, and epistemological endeavor."

Brenda M. Finucane, Geisinger Autism & Developmental Medicine Institute and former president, NSGC

"Navon's important and thought-provoking book brings a fresh sociological perspective on rapidly moving advances in medical genetics. This work marks an overdue and welcome departure from social scientists' long-standing aversion to genetic 'labeling.' With an engaging and persuasive style, Navon sheds new light on the profound impact of genetic diagnoses on individuals, families, advocacy groups, and society as a whole."

Stefan Timmermans, University of California, Los Angeles

“A brilliant insight in the cutting edge of genomics. Navon expertly reveals how genetic knowledge changes our identities, biologies, and diseases and, vice versa, how social action allows some genetic mutations to define who we are while others languish in medical journals. The genomic revolution is a social revolution.”

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Disability Studies

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Medicine

Sociology: Medical

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