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Article ID: CBB309822518

The Human Genome Project as a Singular Episode in the History of Genomics (2022)

García-Sancho, Miguel (Author)
Rhodri Ivor Leng (Author)
Gil Viry (Author)
Mark Wong (Author)
Vermeulen, Niki (Author)
James Lowe (Author)

Historical Studies in the Natural Sciences
Volume: 52
Issue: 3
Pages: 320-360

DOI: 10.1525/hsns.2022.52.3.320

URI: https://online.ucpress.edu/hsns/article/52/3/320/185531/The-Human-Genome-Project-as-a-Singular-Episode-in

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Scientific collaboration Scholarly publishing Social networks Human genetics Hereditary diseases Chorea Cystic fibrosis Molecular sequencing Genomics 21st century 20th century, late Human Genome Project

In this paper, we progressively de-center the Human Genome Project (HGP) in the history of genomics and human genomics. We show that the HGP, understood as an international effort to make the human reference genome sequence publicly available, constitutes a specific model of genomics: prominent and influential but nevertheless distinct from others that preceded, existed alongside, and succeeded it. Our analysis of a comprehensive corpus of publications describing human DNA sequences submitted to public databases from 1985 to 2005 reveals a plethora of authoring institutions, with only a few contributing to the HGP. Examining these publications in a co-authorship network enables us to propose two different sequencing approaches—horizontal and vertical sequencing—whose changing dynamics shaped the history of human genomics. We argue that investigating the extent to which different institutions combined these approaches or prioritized one of them captures the history of genomics better than using the categories of large-scale sequence production and sequence use, as much scholarly literature concerning the HGP has done. Sequence production and use became fully distinct only within the HGP model, and especially during the last stages of this endeavor. By exploring a collaboration between Celera Genomics, a large-scale sequencing institution, and two medical genetics laboratories, we show the potential of our co-authorship network and its analysis for historical research. Our study connects the historiographies of medical genetics and human genomics and indicates that the so-called translational gap from sequence data to clinical outcomes may reflect the assumption that genomics was substantially different from prior and parallel genetics research. This essay is part of a special issue entitled The Sequences and the Sequencers: A New Approach to Investigating the Emergence of Yeast, Human, and Pig Genomics, edited by Miguel García-Sancho and James Lowe.

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Article Miguel García-Sancho; James Lowe; Gil Viry; Rhodri Leng; Mark Wong; Niki Vermeulen (2022) Yeast Sequencing: “Network” Genomics and Institutional Bridges. Historical Studies in the Natural Sciences (pp. 361-400). unapi

Article James Lowe; Rhodri Leng; Gil Viry; Mark Wong; Niki Vermeulen; Miguel García-Sancho (2022) The Bricolage of Pig Genomics. Historical Studies in the Natural Sciences (pp. 401-442). unapi

Article James Lowe; Miguel García-Sancho; Rhodri Leng; Mark Wong; Niki Vermeulen; Gil Viry (2022) Across and within Networks: Thickening the History of Genomics. Historical Studies in the Natural Sciences (pp. 443-475). unapi

Article Rhodri Leng; Gil Viry; Miguel García-Sancho; James Lowe; Mark Wong; Niki Vermeulen (2022) The Sequences and the Sequencers: What Can a Mixed-Methods Approach Reveal about the History of Genomics?. Historical Studies in the Natural Sciences (pp. 277-319). unapi

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