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Accelerating into a new age


The full sequencing of the human genome is being completed - spectacularly - 15 years ahead of the initial target date. An example of the formidable increase in the speed of modern genome research - due to the partnership between basic science and the computer - and of the fierce competition between public and private research which helped generate the momentum. This is a competition which also lies at the heart of the ethical debate on the 'ownership' of mankind's genetic heritage.



'The challenge now is to identify between 30 000 and 100 000 genes (the number itself is the subject of much discussion) which are in fact just 5% of the total sequence'.

In the early 1980s when, together with a number of other visionary scientists, James Watson, one of the researchers who discovered the double helix of DNA, launched the age of 'conquest' of the human genome, the task seemed as vast and difficult as sending a manned spaceship to Mars. Even the most optimistic believed it would take 20 to 30 years (until 2010 or 2020) to successfully complete the project at a cost of at least 3 billion euros.
Yet little by little, the ambitions of these pioneers were seen to be an achievable challenge. Rapid advances in molecular biology over the past two decades - especially the sequencing technique developed in 1977 by the British researcher Frederick Sanger, a 1980 Nobel prizewinner - had clearly shown the possibilities that would be opened up by the identification of human genes. At that time, nearly 3 000 of them had already been provisionally identified. Not many perhaps, but a start.

The birth of HUGO
Progressively, the idea of decoding all 3 billion bases strung out along our 23 chromosomes began to look increasingly possible. Realising the need to pool all public research efforts worldwide before embarking on such an enterprise, in 1988, at the initiative of British biologist Sydney Brenner, a team of scientists decided to set up an international coordinating structure: the Human Genome Organisation (HUGO). Two years later the United States gave the sequencing starting signal when it set up the famous HGP (Human Genome Project), cofinanced by the NIH (National Institutes of Health) network and the Department of Energy. In 1992 the United Kingdom came on board, thanks largely to the considerable financial support the Wellcome Trust decided to grant the Sanger Research Centre in Cambridge. In the mid-1990s, France, Germany, Japan and China all joined the HGP, that by then had become a vast intercontinental consortium under the leadership of an American, Francis Collins of the NIH. US scientists completed 55% of the total sequencing, the British 33%, and France, Germany and Japan between them the remaining 12%.

The outsider
The initial research stage was laborious. Everything had to be organised, in particular the allocation of tasks and the infinitely complex storage of the data obtained. Above all, it was vital to boost the speed and cut the cost of the decoding methods. This was where in 1992 Craig Venter, a brilliant NIH biologist, came onto the scene, causing quite a surprise by setting up his own private research centre and, in 1998, founding Celera Genomics. Dr Venter very quickly took the stance of a formidable rival to the public researchers at the HGP by developing his own sequencing technique, known as Shotgun. Unlike the HGP method of sequencing DNA fragments, arranged in advance by the physical mapping of the human genome, the Shotgun method permits the random sequencing of unmapped fragments. At the end of the process, this method requires a vast computing capacity (several terabytes - thousand billion bytes - of RAM) to reconstitute the human genome on the basis of these randomly sequenced fragments. In short, this Shotgun method can be described as quicker and cheaper - but less systematic.

It was under the stimulus of this competition between public and private research (Dr Venter keeping up the media interest - and reassuring his financial backers - with regular announcements of his company's successes) that genome research moved into top gear. 'This race to the finish boosted the scientific performances. In 1993, the HGP's objective was to sequence 80 million of the 3 billion base pairs of the human genome within five years. Today, with the automation of sequencing techniques and the extraodinary power of computers with memories of several terabytes this same number of base pairs can be decoded in a week,' explains Jacques Remacle, the scientist responsible for genomic research at the European Commission.

Patenting life?
But behind this competitive 'sporting scientific spirit' lie the huge ethical implications and financial stakes of the genomic age which are the real reason for this fierce rivalry. There are two opposing stances. On the one hand are the HGP researchers who fear any appropriation of humanity's common biological heritage and who have consistently made their sequencing results available on the Internet within 24 hours of obtaining them. On the other is Celera Genomics which, while denying any designs on monopolising the human genome, has never concealed the fact that it had the firm intention of reaping the rewards of its investments.

At present, the mobilisation of public research and its stupendous effort to cross the finishing line at the same time as its private competitor has obliged the politicians to 'show their hand'. Celebrating the announcement at the White House with Tony Blair on 26 June, Bill Clinton repeated the US wish - shared by Europe and most other countries - for the basic genomic data to be a part of man's common heritage.

It remains to be seen how such statements of principle shape up in the dawning 'post-genomic' age which, over the coming decades, is going to demand even more strenuous research efforts than we have already seen. The challenge now is to identify between 30 000 and 100 000 genes (the number itself is the subject of much discussion) which are in fact just 5% of the total sequence. Francis Collins, the director of the NIH's National Human Genome Research Institute, likens it to finding a needle in a haystack but 'even more difficult ... because at least a needle is different from hay, while a gene is a piece of DNA like any other.' It is as the researchers advance with this formidable undertaking - and the medical discoveries are made - that the problem of the patenting of life will assume its full significance.

In Europe, European Directive 98/44/EC (July 1998) laid the foundations for a general rule that a DNA sequence can only be patented if its knowledge permits a demonstrable technological application. Is this principle enough? In the spring of this year, two MPs, Jean-François Mattéi of France and Wolfgang Wodarg of Germany, drew up a petition against the directive, signed by many prominent European politicians and scientists. Present difficulties in transposing the directive into national legislation - especially in France - show that the debate is far from settled.

The EU chips in
In addition to the commitment of those individual Member States involved in the HGP, many European genomic research projects have received support from the EU over recent years (see European firsts). The current Quality of Life programme attaches great importance to genomic research in relation to a number of human complaints (cancer, infectious diseases, inherited deafness, autism, muscular dystrophy, etc.). Other projects concentrate on the use of genomic tools for developing diagnosis and treatment methods.

The Commission also plans to adapt the Fifth Framework Programme to take account of the new prospects opened up by the accelerated rate of progress in sequencing the human genome. This autumn, Commissioner Philippe Busquin will be submitting a new initiative to the Research Council and European Parliament aimed at increasing the capacity for scientific cooperation in the new 'post-genomic' field.

A trip through cyberspace

Explore the world of research on the human genome at the HUGO/HGP site:

Visit the European centres of excellence involved in the HGP project:

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