Variations on a Chip: Technologies of Difference in Human Genetics Research

Journal of the History of Biology 51 (4):841-873 (2018)
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Abstract

In this article we examine the history of the production of microarray technologies and their role in constructing and operationalizing views of human genetic difference in contemporary genomics. Rather than the “turn to difference” emerging as a post-Human Genome Project phenomenon, interest in individual and group differences was a central, motivating concept in human genetics throughout the twentieth century. This interest was entwined with efforts to develop polymorphic “genetic markers” for studying human traits and diseases. We trace the technological, methodological and conceptual strategies in the late twentieth century that established single nucleotide polymorphisms as key focal points for locating difference in the genome. By embedding SNPs in microarrays, researchers created a technology that they used to catalog and assess human genetic variation. In the process of making genetic markers and array-based technologies to track variation, scientists also made commitments to ways of describing, cataloging and “knowing” human genetic differences that refracted difference through a continental geographic lens. We show how difference came to matter in both senses of the term: difference was made salient to, and inscribed on, genetic matter, as a result of the decisions, assessments and choices of collaborative and hybrid research collectives in medical genomics research.

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References found in this work

Blood groups and human groups: Collecting and calibrating genetic data after World War Two.Jenny Bangham - 2014 - Studies in History and Philosophy of Science Part C: Studies in History and Philosophy of Biological and Biomedical Sciences 47:74-86.
Indigenous populations in Mexico: Medical anthropology in the work of Ruben Lisker in the 1960s.Edna Suárez-Díaz - 2014 - Studies in History and Philosophy of Science Part C: Studies in History and Philosophy of Biological and Biomedical Sciences 47:108-117.
“Geographical Distribution Patterns of Various Genes”: Genetic studies of human variation after 1945.Veronika Lipphardt - 2014 - Studies in History and Philosophy of Science Part C: Studies in History and Philosophy of Biological and Biomedical Sciences 47:50-61.
Chromosome surveys of human populations: Between epidemiology and anthropology.Soraya de Chadarevian - 2014 - Studies in History and Philosophy of Science Part C: Studies in History and Philosophy of Biological and Biomedical Sciences 47:87-96.

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