International Mammalian Genome Society

The 14th International Mouse Genome Conference (2000)

The Verne Chapman Memorial Lecture (II)

Society and the Human Genome

John Sulston and the International Human Sequencing Consortium

The Sanger Centre, Wellcome Trust Genome Campus, Hinxton, Cambs, CB10 1SA

The announcement of the draft sequence of the human genome in June 2000, was generally regarded as an iconic moment. Why? The data, after all, was already in the public databases, and was being searched and analysed by tens of thousands of scientists in academia and industry. But, quite correctly, people perceived that humanity had gained a new and unprecedented power over its own destiny: not simply from the sequence, but from the cumulative work of molecular biology during half a century. It is time for society to take stock of the way the information should be handled. There are huge potentials for discovery and invention, for improving medical care, and for wealth creation. There are also issues of human rights if the information is not handled appropriately.

The vast majority of the sequence is now available. More than a quarter is finished (including two complete chromosomes), and the rest has good coverage though not long range continuity. We can now see the entire landscape of base composition and repeated sequences for the first time. First pass analysis indicates fewer genes than expected: about 40000 now looks a likely number. The predicted proteins have few novel domains relative to invertebrates, but they do have a wider range of architectures. However, we do not expect at this stage to be able to interpret the sequence fully. Rather, it is a resource to be continually reanalysed as our biological understanding increases. That is the scientific reason for releasing it promptly, fully and freely. The social reasons for doing so are even more compelling.

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Last modified: Saturday, November 3, 2012