Looping Genomes: Diagnostic Change and the Genetic Makeup of the Autism Population

Daniel Navon, Gil Eyal
2016 American Journal of Sociology  
This article builds on Hacking's framework of "dynamic nominalism" to show how knowledge about biological etiology can interact with the "kinds of people" delineated by diagnostic categories in ways that "loop" or modify both over time. The authors use historical materials to show how "geneticization" played a crucial role in binding together autism as a biosocial community and how evidence from genetics research later made an important contribution to the diagnostic expansion of autism. In the
more » ... second part of the article, the authors draw on quantitative and qualitative analyses of autism rates over time in several rare conditions that are delineated strictly according to genomic mutations in order to demonstrate that these changes in diagnostic practice helped to both increase autism's prevalence and create its enormous genetic heterogeneity. Thus, a looping process that began with geneticization and involved the social effects of genetics research itself transformed the autism population and its genetic makeup. It is by now well recognized that most traits and disease categories do not line up in a straightforward way with characteristics of the human genome ðLock
doi:10.1086/684201 pmid:27092389 fatcat:ip3asx3um5e5vfvmeorkfs4cqe