Who owns our knowledge about ourselves? A short history of the sequencing of the human genome

The text of this article is exerpted from Privatising our genes? by Micheal Ashburner, 2001.

The issue at stake could hardly be more momentous: who owns our knowledge about ourselves?

Since the early 1990s it has been clear that research technology could sequence the very large genomes of mouse and human. Nobody underestimated the magnitude of the task. Government agencies in the United States, and the Wellcome Trust, an independent UK biomedical charity, were persuaded to make the necessary investment. Slowly at first, the sequencing of the human genome began.

By 1998, less than 10 per cent of the human genome had been sequenced. With growing investment and mounting confidence the ramp-up in sequencing rate started. In the process two important principles about the endeavour were established.

The human genome project would be truly international. Despite the domination of the USA and UK, groups from Germany, France, Japan, China and other countries were making significant contributions. Moreover, it would be truly public. At a historic meeting in February 1996 in Hamilton, Bermuda, the partners agreed not to patent any of the sequences that they determined, but instead immediately to deposit them in a public database, where they were freely available to all.

The Bermuda Agreement had three essential elements. First, that something as fundamental to our nature as the sequencing of our own genome should not be the property of any individual, group or government, however enlightened, but should belong freely to all humankind. Such knowledge, Bermuda ruled, should as a matter of principle be freely available to all: to simply hold in one’s hand, to ponder, to study and analyse or, within certain ethical limits, to exploit.

The second essential feature was more pragmatic. Everyone at Bermuda was aware that determining the sequence of genomes, whether human or not, is but the first step to understanding the complete meaning of the message they contain. This process could take decades of work. Progress in it will be much faster if the problem of interpreting sequences attracts the brightest interested minds, and most skilled and experienced geneticists, available everywhere. This possibility would be seriously impeded if access to a sequence is controlled in any way, either by legal or commercial constraints.

The standard argument for patents of inventions is that they encourage investment and therefore accelerate the development of the advances they embody. Here, the opposite holds true. The swift advancement of knowledge involves unimpeded scientific rivalry and collaboration.

But in May 1998 Craig Venter announced he was forming a new company to sequence the human genome in three years and make money by selling access to the sequence to business, in total breach of Bermuda. This was not pure bravado. It coincided with a technological breakthrough in sequencing technology, achieved by Venter’s backers, PE Biosystems Inc. They wagered that their new machines could be coupled with novel computational methods to make the task much easier, cheaper and faster.

Reactions to Venter’s announcement varied from outrage to disbelief. Some said that it could not be done technically; others said that even if it could it was immoral, unethical and offended all of the laws of human nature other than those of capitalism. Those responsible for the public sequencing project had three choices: to lay down and let Venter do it; to collaborate with Venter; or to compete. They competed. The competition did, of course, have a bright side – despite their public statements to the contrary, the public sequencing group accelerated their progress many-fold in response to Celera. It was an ugly, not friendly, competition. Both sides took every opportunity to question the integrity of their opponent in public.

Science allowed itself to be persuaded to publish Celera’s paper with neither public data deposition nor full disclosure of the methods by which the work was done. The fact that Celera is a major financial donor to the AAAS (Science’s charitable owners) had, of course, no influence on this decision.

Most, though not all, reputable scientists regard the Celera paper published in Science as little more that an expensive advertisement, a form of science by press release. One of the defining features of science is that it is public knowledge. Only if scientific knowledge and the methods used to acquire it are freely available, can the cardinal principle of the reproduction and testing of experiments take place. It is a tragedy that a great scientific magazine has seen fit to bow to the will of big business to compromise such a basic principle.

The consequences are only beginning to be felt. When Heather Kowalski of Celera Genomics announced at the end of April that the company had assembled the genetic code of the mouse, it was with a mixture of PR-speak (“the Rosetta stone”) and keep-off-the-grass. The denial of access to non-subscribers means that the scientific credibility of the findings cannot be tested where it matters – in the public realm.