Medical Translation in the History of Modern Genomics

TRANSGENE

Principal Investigator:

Miguel Garcia-Sancho

Research Team:

Jim LoweMark WongErika SzymanskiNiki VermeulenAnn BruceGil Viry

Funding:

This project is funded by a European Research Council Starting Grant.


Overview

In June 2000, during the presentation of the first draft of the Human Genome Project, US President Bill Clinton stated that humanity was learning “the language in which God created life” and that the “new knowledge” scientists were gaining would “revolutionise the diagnosis, prevention and treatment of most, if not all, human diseases.” This ceremony marked the climax of genomics, the science of collecting and compiling information about the fine chemical structure or sequence of human and other species’ genetic material. Sixteen years on, a huge volume of genome sequence information is available in open access databases, but its translation into medically relevant outcomes has proved trickier than expected.

Our project looks at how this medical translation was envisaged during the sequencing of the human, yeast and pig genomes, and how this envisaged translation shaped the collection, organisation and dissemination of the data. We start with the hypothesis that these three major and scientifically celebrated genomic projects began as bottom-up initiatives: a growing amount of sequence information was gathered through the coordination and pooling of results of a relatively large number of laboratories that were interested in the data, despite not specifically working on sequencing. As the 1990s went by, this bottom-up approach was abandoned in favour of a top-down strategy in which a selective club of factory-style centres sequenced each genome from one end to the other. These centres, unlike their predecessors, were not directly involved in the further exploitation of the data.

By investigating and comparing these changing organisational strategies, we hope to offer insights that will improve the translation of genomic information into medical, agricultural or other practical outcomes today. This is a five-year project that started in October 2016 and is funded by the European Research Council. Our methodology combines historical work in archives, qualitative social science and bibliometric analysis.

Our overarching research questions are:

1) Was the medical translation of genomic data postponed to after the completion of the human, yeast and pig genome projects? If so, when did this occur and why?

2) What happened to the visions of translation and bottom-up ways of organising the delivery of the data that were discarded in favour of genome completion?

3) Is the strategic choice of completion over usability relevant for current research projects that aim to translate biomedical or other forms of big data?

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