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

• In Event: 511 - Section on Science, Knowledge, and Technology Paper Session. Topics in Science, Knowledge and Technology Studies

Abstract

How does the classification of human difference interact with the genetic makeup of the populations who are so classified? We draw on Ian Hacking’s framework of “dynamic nominalism” (1995; 2007), which shows how diagnostic classifications and the “kinds of people” they delineate can interact or “loop” over time in ways that recursively transform the categories, their attendant expert practices and even the people themselves. Crucially, we add knowledge about genetic etiology to the mix of elements that can both effect change and be changed through looping processes. Using historical materials, we examine the relationship between autism’s “geneticization” and its secular growth in prevalence, arguing that evidence of genetic heritability and the related destigmatization of the condition made an important contribution to the processes of diagnostic expansion that drove the autism “epidemic”. However, we also show how diagnostic expansion helped create autism’s enormous genetic heterogeneity, such that there are now well over a hundred genomic anomalies associated with autism spectrum disorders or ASDs. But how could we possibly demonstrate this? We use disorders that are delineated strictly according to genetic mutations as a strategic research site: because they are fixed to genetic mutations, rising ASD rates in these “genomically designated” conditions indicate that changes in diagnostic practice have dramatically increased the genetic heterogeneity of autism. We argue that this finding indicates the need to consider the way looping processes, including those that involve genetics research itself, can transform the genetic makeup of populations.

Authors

• Daniel Navon, Harvard University

• Gil Eyal, Columbia University