Human Genetics in the Age of Patient Advocacy
Human Genetics in the Age of Patient Advocacy
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.
"A thought-provoking sociological analysis of the history of medical genetics from the beginning to this date, examining the impact of genetics-based diagnosis on individuals, families, advocacy organizations, and the society. . . . The book is well organized and written in a clear and straightforward language, presenting a novel perspective in perception of genetic disorders. It will be equally interesting to social scientists and medical professionals and to a diverse audience, including those whose lives are affected by a genetic disorder, who are interested in medical genetics, or who are involved with biomedical and social issues related to genetic disorders."
Anesthesia & Analgesia
"Navon elegantly integrates information from diverse media to examine shifting narratives about human biodiversity. Mobilizing Mutations will be an engaging read for anyone interested in the history of science and genomics, while offering students of the molecular basis of human disease a new perspective on the societal context of their work. . . . Recommended."
"A complex yet engaging monograph."
New Genetics and Society
"A critical examination of how genetic mutations create, shape and remake social patterns of inequality. . . . The monograph synthesises a historical critique with fieldwork, balancing theory with empirical evidence well. . . . Mobilizing Mutations provides a timely response to the emerging need to understand geneticisation from a sociological perspective, via the concept of 'genomic designation'. It challenges the ways in which genetic knowledge is both constructed and utilised, and what this means for the actors involved in the process. The book complements work by prominent Science and Technology Studies scholars such as Nickolas Rose, Annemarie Mol, Steve Epstein, Troy Duster, and Alondra Nelson. It is of interest to a wide range of audiences, and particularly given the focus on specific conditions (such as XXY Syndrome, 22q11.2DS and autism), it would be of great interest for those personally affected and directly involved in advocacy work in these areas."
Sociology of Health & Illness
"As our understanding of the idiosyncrasies of the human genome increases, so, too, does our ability to define and refine human disease categories. But what does this mean in terms of how we think about individuals who live with 'abnormal' genomes? . . . Navon reveals how 'genomic designations' became rallying points for patient advocacy and how genetic testing is redefining what it means to be human."
"Navon argues compellingly that we should not be so quick to . . . settle into existing analytical frameworks, lest we miss the variety of ways in which treating the genome as privileged site of classification can reshape identities and collective action."
Social History of Medicine
"Navon compellingly demonstrates—through archival research, bibliometrics, fieldwork at genetic disorders conferences, and interviews—the ways in which genomic designation not only adds new information to the existing categories (e.g., the identification of Trisomy 21 mutation in Down syndrome), but also creates entirely new categories (e.g., 22q11.2DS). . . . This typology, and the detailed analysis of the specific category of genomic designation, will be of interest to scholars in autism studies, rare diseases studies, disability studies, and the social studies of science and medicine more broadly. . . . Compelling not only for the explication of genomic designation itself, but also for what it highlights about the absence of genomic designation in other conditions. These contrasts demonstrate that genetics are not destiny, and that there is not one destiny for genetics. Overall, Mobilizing Mutations provides an ambitious theoretical framework with the possibility to pull genetic researchers, clinicians, and social scientists into conversations through detailed case studies strongly informed by both genetic science and social science."
Medical Anthropology Quarterly
"Navon’s monograph is a cogent overview of what genetic mutations already signify and a preview of what could come next. Mobilizing Mutations would be a worthy addition to upper-level courses in the sociology of knowledge, medical sociology, and science and technology studies."
American Journal of Sociology
"A landmark contribution to the social and historical study of genomic technologies and their consequences for the categorization of human difference. It will doubtless pave the way for a range of similar projects. . . . Navon has thus opened the door for a range of further investigations of how and why biology has an enduring impact on how we live our lives."
Journal of the History of Biology
"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."
Steven Epstein, author of Inclusion: The Politics of Difference in Medical Research
"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."
Alberto Cambrosio, McGill University
"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."
Brenda M. Finucane, Geisinger Autism & Developmental Medicine Institute and former president, NSGC
“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.”
Stefan Timmermans, University of California, Los Angeles
Table of Contents
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