The Human Genome Project as a singular episode in the history of genomics

Miguel Garcia-Sancho *, Rhodri Leng, Gil Viry, Mark Wong, Niki Vermeulen, James Lowe

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

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 Michael García-Sancho and James Lowe.
Original languageEnglish
Pages (from-to)320-360
Number of pages41
JournalHistorical Studies in the Natural Sciences
Issue number3
Publication statusPublished - 1 Jun 2022

Keywords / Materials (for Non-textual outputs)

  • genomics
  • DNA sequencing
  • Homo sapiens
  • Human Genome Project
  • Celera Genomics
  • medical genetics
  • cystic fibrosis
  • Huntington’s disease


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