Mobilizing Mutations: Human Genetics in the Age of Patient Advocacy

Mobilizing Mutations: Human Genetics in the Age of Patient Advocacy. Daniel Navon, Chicago: University of Chicago Press, 2019, 396 pp.

When scientists identify a genetic marker, what meaning does that marker have? In the early 21st century, genetic testing can identify a broad number of genetic mutations—trisomy 21, fragile X, various sex chromosome abnormalities, and a wealth of precisely named but colloquially difficult-to-say mutations like 16p11.2 deletion syndrome, 22q11.2 deletion syndrome (22q11.2DS), and 22q13 deletion syndrome (22q13DS). Some of these mutations become focal points for scientific and advocacy mobilization, with their own biosocial organizations. Such organizations connect people with the mutation (and, quite commonly, their parents) with each other as well as with researchers and clinicians, in order to understand the mutation and apply that understanding to everyday life and social action. These mutations generate new “kinds of people” (p. 1). Other mutations, once named, spark no such movement. Their discovery becomes a chapter or footnote in the longer story of an existing diagnosis or condition.

Why do some mutations form the basis of biosocial advocacy organizations, and others do not? Why do some mutations create new kinds of people, and others do not? These are the core questions Navon explores in Mobilization Mutations, which focuses on the diverse trajectories of mutations in patient advocacy organizations, highlighting the factors that lead to successful mobilization of genetic mutations for directing research and impacting care.

Mobilization Mutations details Navon’s concept of “genomic designation,” which is “the delineation and diagnosis of medical conditions strictly according to observations of abnormal genomes, be it whole chromosome duplications, tiny point mutations, or anything in between” (p. 29). Such “genomically designated conditions” include 22q11.2DS and fragile X syndrome. Many of these conditions, phenotypically, are associated with intellectual and developmental disability. In line with similar scholarship on intellectual and developmental disability advocacy, Navon draws on the work of Paul Rabinow, Nikolas Rose, and Carlos Novas on biosociality and biological citizenship and on the work of Ian Hacking on “making up people,” the relationships between classifications and they people they classify. 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).

Navon covers a broad range of genetic mutations in this text. Indeed, the topology of different meanings a mutation can have, which he advances in Chapter 1, contributes greatly to the social study of science and advocacy. Navon lays out five trajectories that may result from the naming and identification of a new genetic mutation. Geneticization occurs when the mutation nearly exactly corresponds with an existing diagnosis (e.g., Down syndrome and trisomy 21). Recalibration occurs when the mutation does not correspond as exactly but stakeholders determine that it should be a necessary and sufficient condition for the diagnosis, causing the group of people included in the diagnosis to change (e.g., Williams syndrome and 7q11.23 microdeletion). Unification or lumping occurs when a mutation that appears across several diagnoses serves to create a new genomically designated condition that contains all of them (e.g., DiGeorge syndrome, VCFS, and 22q11.2DS). Conditions are split or fragmented when a new mutation associated with an existing syndrome inspires a new group or subgroup (e.g., several genes associated with intellectual disability). Clear-cut genomic designation occurs as described above (e.g., 22q13DS/Phelan-McDermid syndrome).

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. Personally, I came to this book from my background in autism studies. Mobilizing Mutations certainly sheds important light on the various complex relationships between genetic mutations and autism—how some mutations “are” autism, “are not” autism, or “are enough like autism.” This is not, however, a book about autism per se. Rather, autism comes into play primarily because autism advocacy is already such a powerful force in the U.S. advocacy landscape. Other, more genomically oriented advocacy groups have followed the example of autism advocacy and leveraged autism connections (see, e.g., the case of Fragile X connected with Bernard Rimland’s autism parent advocacy, Chapter 3).

My background in autism studies also leads me to the main weakness of the book, which Navon himself identifies on the very last page (p. 314)—the absence of the perspectives of people with genomically designated conditions themselves. Aside from a few moments (e.g., a section on the experiences of “mildly affected” patients upon receiving a 22q11.2DS diagnosis, pp. 252–53), the discussion of advocacy focuses on parent advocacy perspectives. While Navon does explain in text and footnotes the lack of Institutional Review Board approval to interview patients for this study, the absence of their perspectives could have been remedied through quoting non-ethnographic primary and secondary sources in line with the archival research strategy used in representing historical debate and biomedical research perspectives. Navon acknowledges the influence of unquoted informal conversations with patients (p. 14). Perhaps this influence inspired some of the book’s intentional use of non-deficit language (e.g., “childhood developmental difference” [p. 311]). Nonetheless, an explicit discussion of patient self-advocacy (and potentially tensions between patient and parent advocates) would be most welcome in future research.

The book is admittedly dense, focused as it is on the language and ways of knowing of genetics, which is often difficult for those of us not working in genetics or mobilizing genetic mutations in our own everyday lives. Indeed, this difficulty itself is testament to the type of work advocates are doing to mobilize genetic ways of knowing. The inclusion of tables greatly helps illustrate the argument in the opening chapters, and later chapters focused on specific case studies bring a relatable rich description. Chapter 2 on the history of XYY “super male” syndrome and its debunked links with criminality is especially compelling as a teaching tool, providing a new social history of this genetic mutation as “the exception that proves the rule” of genomic designation. While the bulk of the book focuses on genomically designed conditions, especially 22q11.2DS, I find it 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.

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