Mobilizing Mutations: Human Genetics in the Age of Patient Advocacy by Daniel Navon

Abstract

Reviewed by: Mobilizing Mutations: Human Genetics in the Age of Patient Advocacy by Daniel Navon Lewis A. Grossman Daniel Navon. Mobilizing Mutations: Human Genetics in the Age of Patient Advocacy. Chicago: University of Chicago Press, 2019. 396 pp. $40.00 (978-0-226-63809-6). Mobilizing Mutations examines social mobilization efforts around genetic mutations in recent decades. Navon focuses on mutations with ambiguous and diverse effects, rather than those with clear causal relationships to established medical conditions. He examines how a "genomically designated condition becomes a category of practice and social action" (p. 35), giving rise to its own clinical guidelines, treatment centers, advocacy organizations, and support groups. Although Navon describes his book as "a comparative-historical analysis of genomically designated conditions" (p. 14), it is obviously the work of a sociologist rather than a historian. As such, it is a challenging read for scholars from other disciplines (like this reviewer). Nevertheless, the insight Navon provides into the complex interactions among genetics, disease, and society is well worth the effort. Mobilizing Mutations depends heavily on the deployment of several technical concepts. One is philosopher Ian Hacking's "looping" effect, by which the classification of people into categories transforms the identity and behavior of the people themselves and thus creates a new "kind of person." These changes reshape experts' categorizations, which then recursively loop back to influence the conduct of the classified group, and so on. The specific type of classification that Navon explores in his book is "genomic designation." This term, which he coins (p. 34), refers to the delineation of medical conditions strictly according to the presence of abnormal genomes. Navon's goal is to show how social mobilization transforms such mutations into potent categories of identity and community formation and how activists (in alliance with experts) forge the creation of new clinical guidelines, treatment protocols, and research agendas. In short, Navon argues that "what it means to have a genetic mutation is as much a sociological phenomenon as it is a biomedical one" (p. 7). [End Page 429] Chapter 1 familiarizes the reader with the phenomenon of "genomic designation" in the context of 22q13 and 22q11.2 Deletion Syndromes. Chapter 2 goes back in history to explore how in the 1960s and 1970s, newly discovered mutations had little impact outside the field of human genetics research because American culture was not yet fertile ground for social mobilization around genetic categories. Navon calls the broad societal interest in XYY syndrome during this period and its discredited link to criminality and "super male" behavior as "the exception that proves the rule" (p. 61). Returning to recent instances of successful social mobilization, Chapter 3 introduces the notion of "leveraging," a strategy by which rare mutation activists increase their resources and influence by persuading a community organized around a common disease that research on the mutation will improve understanding and treatment of the disease. For example, Fragile X advocates have effectively hitched their mission to that of the autism community—which itself has reconceptualized autism by pulling Fragile X and other mutations into its orbit, as shown in Chapter 4. Chapters 5 and 6 describe how networks of advocates and experts have mobilized mutations into "new kinds of people" in forums ranging from the biomedical literature, specialist clinics, and doctors' offices to support groups, social media, and summer camps. Chapter 7, perhaps the most fascinating, discusses how mere knowledge of a genetic mutation can redefine the border between normal and pathological, most often by recasting what would otherwise be a normal clinical observation into a pathological finding deserving of attention and treatment. Finally, Chapter 8 assesses possible future paths for genetic mutation mobilization, with an eye toward the potential eugenic consequences of prenatal testing for mutations. Critics often dismiss patient advocacy groups as manipulated pharmaceutical industry shills. Notably, however, patients and (especially) their parents were indisputably the primary impetus behind the mobilization campaigns Navon examines. Indeed, drug companies had no particular interest in the rare mutations discussed in the book until patient groups mobilized around these mutations and leveraged them to attract some of the resources devoted to more widespread conditions like autism and ADHD. So far, no targeted drug therapies have...