Human Genome

This strand of the project reconstructs the efforts to determine the fine chemical sequence that constitutes human genetic material. Its starting point is investigating different human genome initiatives that proliferated in countries like Italy, France, Britain and the United States during the second half of the 1980s. These independent, national projects not always sought to sequence the whole human genome. However, they increased their coordination after 1990 and gradually led to a concerted, international effort to complete the human genome sequence. What we understand today as the Human Genome Project is this unified, international endeavour that emerged from initially unconnected and contradicting national initiatives. 

The increasing internationalisation of the Human Genome Project triggered a change in sequencing strategies. When the project was still dominated by national initiatives, there was an expectation that the human genome sequence would be achieved by pooling small contributions from a relatively large number of laboratories. The early coordination efforts at the European level – the Human Genome Analysis Programme of the European Commission – sought to create an infrastructure in which laboratories in the fields of human and medical genetics would share the results of their experiments. This would lead to an expanding volume of genomic information, given the interest of these laboratories in sequencing genes connected to human hereditary diseases.

Throughout the 1990s, this strategy was replaced by the establishment of five factory-style centres that systematically sequenced the human genome from one end to the other: the Whitehead Institute, Washington University in St Louis, the Baylor College of Medicine, the Department of Energy’s Joint Genome Institute (all of them in the US) and the Sanger Institute (in the UK). Unlike the medical and human geneticists, researchers at these centres were not involved in the further use of the genomic information. This change of strategy led to the completion of the human genome ahead of schedule, in 2000, but deferred the translation of the information (by clinicians, genetic researchers or pharmaceutical companies) to after its release in open access databases.

The questions on which this strand will focus are:

1) What were the factors shaping the transition towards a more hierarchical and centralised Human Genome Project? What was the role of funders – such as the Wellcome Trust and the US National Institutes of Health – in this transition?

2) What happened with the researchers and institutions involved in the previous pooling and result-sharing approach? How did they translate – or attempted to translate – the genomic data as it was produced?

3) Has the winning approach to the Human Genome Project been retrospectively identified with a unified, publicly-funded, international and open-access initiative? What are the consequences of this – and the implicit forgetting of the pooling and sharing approach – for current translational research building on human genome data?

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