Sociology in an age of genomic instability: Copy number variation, somatic mosaicism, and the fallen genome

Abstract

Purpose - This study analyzes the rise of genome instability in the life sciences and traces the problematic of instability as it relates to the sociology of health. Genome instability is the study of how genomes change and become variable between generations and within organisms over the life span. Genome instability reflects a significant departure from the Platonic genome imagined during the Human Genome Project. The aim of this chapter is to explain and analyze research on copy number variation and somatic mosaicism to consider the implications of these sciences for sociologists interested in genomics. Methodology/approach - This chapter draws on two multi-sited ethnographies of contemporary biomedical science and literature in the sociology of health, science, and biomedicine to document a shift in thinking about the genome from fixed and universal to highly variable and influenced by time and context. Findings - Genomic instability has become a framework for addressing how genomes change and become variable between generations and within organisms over the life span. Instability is a useful framework for analyzing changes in the life sciences in the post-genomic era. Research implications - Genome instability requires life scientists to address how differences both within and between individuals articulate with shifting disease categories and classifications. For sociologists, these findings have implications for studies of identity, sociality, and clinical experience. Originality/value - This is the first sociological analysis of genomic instability. It identifies practical and conceptual implications of genomic instability for life scientists and helps sociologists delineate new approaches to the study of genomics in the post-genomic era.