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Journal of the History of Biology

, Volume 51, Issue 4, pp 841–873 | Cite as

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

  • Ramya M. RajagopalanEmail author
  • Joan H. Fujimura
Open Access
Article

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 (HGP) 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 (SNPs) 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(s), as a result of the decisions, assessments and choices of collaborative and hybrid research collectives in medical genomics research.

Keywords

Sociotechnical practice Biomedical genomics Human genetic variation Single nucleotide polymorphisms (SNPs) Population Difference DNA microarray SNP chip Haplotype map Public–private research partnerships Genomics consortia 

Notes

Acknowledgments

We gratefully thank respondents at our field sites who generously shared their time and allowed us to observe their work. We also thank Christopher Donohue and the staff at the NHGRI History of Genomics Program for facilitating access to the NHGRI Archival Resource, and for organizing the workshop ‘‘Capturing the History of Genomics,’’ where an early version of this article was presented. The article also benefited from questions and comments at presentations in Australia, Denmark, France, Norway, Taiwan, the U.S. and Wales. We thank the two anonymous reviewers who offered valuable feedback to strengthen the manuscript. RMR acknowledges research support from the Life Sciences Foundation (now the Science History Institute). JHF acknowledges research support from the Russell Sage Foundation and the Center for Advanced Study in the Behavioral Sciences. This work was supported by NSF grant 0621022, NIH/NHGRI Grant R03HG005030, NIH/NHGRI Grant R03HG006571, a University of Wisconsin-Madison Vilas Life Cycle Professorship Award, and grants from the University of Wisconsin Institute for Race and Ethnicity and the University of Wisconsin Graduate School

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corrected publication 2019

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Authors and Affiliations

  1. 1.Institute for Practical EthicsUniversity of California, San DiegoSan DiegoUSA
  2. 2.Department of Sociology and Holtz Center for Science and Technology StudiesUniversity of Wisconsin-MadisonMadisonUSA

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