Title: Genomic Designation
Description: Genetics can do more than predict, explain or help treat medical conditions - it can create new ones. The social sciences have assumed that genetics must work in and through existing categories of human difference in order to inform clinical practice or social mobilization. By contrast, I go beyond the specter of reductionism and examine the emergence of new kinds of people at the intersection of genetics research, clinical practice and social action. For over fifty years, conditions like the XXX, Edwards, Fragile X and 22q11.2 Deletion Syndromes have been discovered, delineated and diagnosed strictly according to abnormalities in the genome, even in the absence of phenotypic coherence - a practice which I call `genomic designation'. This dissertation uses comparative historical methods, fieldwork and citation analysis to examine the history of genomic designation, its variable impact on practice and its implications for our understanding of the biosciences, medicine and social mobilization.

I argue that genomic designation represents an important and growing practice that extends and challenges existing formulations of key concepts like `biosociality', geneticization and the rise of a `molecular gaze' in contemporary medicine. Furthermore, I show how it offers an opportunity to develop a typology of ways in which genetics can radically reconfigure medical classification. However, over the course of its fifty-year history, genomic designation has varied enormously as a clinical and social phenomenon and therefore in the way it impacts lived experience. I show how, during the first few decades after genomically designated syndromes began to be delineated in the human genetics literature in 1959, they gave rise to very little by way of clinical protocols, practices or specialist centers and virtually no social or advocacy organizations. And yet, in recent decades, genomically designated conditions have emerged as bona fide categories of clinical practice and social mobilization.

Drawing on Fleck, Foucault and Haydu, I propose a framework of `reiterative facticity' that aims to combine work from the sociology of science and medicine with a comparative-historical approach by analyzing the way that the very same genetic mutations take on divergent meanings and implications according to contrasting conditions of possibility, repertoires of collective action and the networks of research and advocacy organized around genomically designated conditions. I discuss the way that genomically designated syndromes are often `leveraged' as models in biomedical research, and how this can turn them into privileged sites of knowledge production, commercial investment and social mobilization. In particular, I analyze the intersection of genetic disorders and autism in order to understand the nosological conditions for genomic designation and the `trading zones' in which genetic and psychiatric systems of classification can achieve a productive interface. Finally, I use historical and fieldwork material to examine the conditions and repertoires of collective action through which a complex network has been assembled around 22q11.2 Deletion Syndrome, turning it into what Hacking would call a new kind of person that can realign clinical judgment, treatment and care.

In this way, a comparative study of genomic designation shows how biological abnormality must be mediated by historical conditions and prevailing modes of understanding and acting on human difference, but also mobilized by heterogeneous networks of actors working to interface with but also transform existing structures. By way of conclusion, I discuss the possible impact of new non-invasive prenatal genetic testing on genomic designation, summarize my findings and suggest fruitful lines of future research.