Transgene

Introduction

Medical Translation in the History of Modern Genomics (TRANSGENE) was a research project that explored the development of genomic science across three different species: the baker and brewer’s yeast (S. cerevisiae), the pig (Sus scrofa) and Homo sapiens. Supported by the European Research Council, it mapped different ways of organising the practices of DNA sequencing over time. When we think about genomic science, the success story of the Human Genome Project comes most readily to mind, along with the image of large-scale genome centres producing DNA sequences on an industrial scale. Yet the history of genomics as a field reveals that there were other smaller-scale ways of conducting DNA sequencing and, crucially, connecting the resulting information to medical and agricultural goals.

One way in which we uncovered these less well-known trajectories was mixing qualitative and quantitative methods in the study of both the practices of DNA sequencing and the field of genomics. With the help of bibliometric experts and quantitative social scientists, we produced a dataset that gathers all the submissions of human, pig and yeast DNA sequences to public repositories for the period of 1980 to 2015. This unique collection, formed of over 13 million records, allows the identification of the institutions and scientists who submitted the sequences. It also documents the dates of submission and the first publication in which the sequences were described in the scientific literature. Prior historical research on genomics has built on pre-selected case studies rather than a full portrayal of the practices of DNA sequencing. Our dataset thus provides the foundation for a new and exciting way of approaching the history of genomics.

The compilation and analysis of our data involved a team of nine people and the combination of the submission records with other historical evidence, namely archival materials and interviews with scientists and administrators. With this qualitative and quantitative information, we historicised genomics in ways that included non-human species and were chronologically comprehensive: from the yeast genome sequencing proposals of the 1980s to the completion of the whole-genome sequence of the pig in 2012. This historical reconstruction revealed strategies that prioritised the medical and agricultural usability of the sequences rather than the completion of the genomes. These strategies, which were eclipsed by the Human Genome Project, provide insights on how to manage the perceived translational gap of current genomics research.

The project concluded in 2022. Its results can be reviewed in a number of publications, among them a special issue of Historical Studies in the Natural Sciences and an open access book entitled A History of Genomics across Species, Communities and Projects (upcoming, Palgrave Macmillan). We also held a workshop in which we explored our project’s conclusions vis-à-vis other data intensive endeavours.