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Decoding human existence

Print edition : Jul 08, 2000 T+T-

The joint announcement of the first results of public and private projects on sequencing the human genome raises a host of scientific, economic, social and ethical questions that have not been subjected to adequate public discussion.

IT is a scientific and technological landmark that has been compared to the invention of the wheel, a historic breakthrough that will not only transform scientific enquiry and medical knowledge but also human society. In late June, two competing groups o f scientists announced that their much-publicised race to produce the "complete" decoding of human deoxyribonucleic acid (DNA) was over, in a tie. And, with it, a new phase in human self-knowledge has apparently begun, with ramifications that are not onl y far-reaching but as yet little understood.

Despite the celebratory tone which has marked the announcement, this particular declaration is preliminary at best. Even so, it already raises a host of social and ethical issues about medical research and public control over it. But quite apart from the se thorny questions of philosophy and social policy, there are at least two aspects of this which are immediately of special interest to concerned citizens, because of the insights they provide into the current contradictions of scientific research.

The first is the story of how a major public science research programme turned into a race between public and private sectors, which was turned into the equivalent of an Olympic race by media attention. And the second is the issue of private involvement at all, with clearly commercial motives, in activities with huge implications, both positive and negative, for society.

The Human Genome Project is a venture of a consortium of academic centres financed largely by the United States and British National Institutes of Health and the Wellcome Trust of London. It is an international project, which officially began in 1990, an d has involved not only American scientists but also contributions from scientists working in Britain, France, Germany, Japan and China. When it started, it was estimated that the project would take 15 years to complete its work, at a cost of around $15 billion.

The consortium's leader, Francis Collins, Director of the National Human Genome Research Institute based in the United States, as well as the chief scientists involved in the project, John Sulston of the Sanger Centre in Cambridge, England and Robert Wat erston of Washington University in St. Louis, insisted that the genome data should be published nightly on the Internet as it was worked out. This was an unusually generous policy, given the tendency common among scientists today to harvest new data for their own discoveries before sharing it with others. It reflected both the public orientation of the project as well as the perception that such knowledge is the common property of all humanity, and that all humanity should therefore have access to it as well as decide about how it should be used.

The consortium was halfway through what already appeared to be a successful project, when a maverick American genomics scientist, Craig Venter, announced in May 1998 that he would head a new private company that would beat the public consortium to the go al of mapping the entire code by five years. This turned what had been a staid, if ambitious, scientific enquiry into a fiercely competitive race.

Dr. Venter's company, now known as Celera Genomics, is a unit of the PE Corporation which made the public consortium's DNA sequencing machines. It declared that it would provide a complete listing of the code by the end of this year. In response, Dr. Col lins put forward the date of completion of the official project to 2003, and set June 2000 as the target for a 90 per cent draft.

The race certainly led to an acceleration of research, and has involved much lower costs than anticipated. It has also been characterised by acrimony and fed by avid media hype, but the joint declaration in June indicated at least a temporary seal on a t ruce to concentrate on the significance of the discovery itself. For Celera, such a truce may have been necessary to avoid alienation of members of the academic community who may be potential commercial clients in future. The public consortium may have s een a joint declaration as preferable to coming in second with a more complete draft.

In the event, the actual declaration meant more than a compromise between rival groups; it also required a compromise with the stated goals. For a start, Celera's achievement, remarkable as it was in terms of speed, was nevertheless highly dependent upon the public consortium, because by its own admission it has relied on the results posted nightly on the Web which facilitated its own research. Also, because it is a private venture based on the expectation of commercial profit, it was not initially in f avour of public dissemination of the results, and had to be persuaded into such an announcement.

Meanwhile, the Human Genome Project itself has had to settle for an 85 per cent draft, less than it had planned, so as to enable it to meet the deadline. Nor is even this information completely secure and established. The two sides cannot even agree on t he size of the gene-coding part of the genome. Celera says it is 3.12 billion letters of DNA; the public consortium says that it is 3.15 billion units, which amounts to a letter difference of 30 million. Neither side can yet describe the genome's full si ze or determine the number of human genes.

But such biomedical research is fraught with all sorts of risks along with the positive opportunities it offers, and that is why the deep involvement of private companies in this is so problematic. For example, the ability to diagnose vulnerability to di sease on a genome-wide basis will multiply the quandaries which have already been raised by the present level of genetic testing. It is likely that almost every person possesses many gene variants associated with adverse health effects.

If this information is not kept confidential, it could be used to the individual's detriment, and of course it can be psychologically devastating if diagnosis runs ahead of treatment in medical science, and physicians have no therapy to offer. Consider, for example, how insurance companies or potential employers could use such information for discrimination between clients or potential employees. And remember that such agents are most likely to value such data, and to be prepared to pay for it, and woul d therefore be the most lucrative consumers of such information for private companies. This is even prior to the more complex and worrisome ethical questions raised by the future possibility of genetic "designing" of offspring.

A more immediate issue relates to the patenting of genes. Several scientists have shared the public concern about the patenting of genes along with other life-forms. But the U.S. Patents and Trademarks Office allows patenting of discoveries from nature, if they are isolated and purified by the hand of man. According to a commissioner of this Office, "from a patent law standpoint, genes are treated just like any other chemical found in nature". The U.S. Patent Office has now issued patents on 6,000 genes , more than 1,000 of them human genes.

This explains the veritable Gold Rush among private companies rushing to patent various genes, even when they have no idea of what these genes actually do. While genes have been patented in the past, high-speed gene sequencing and other techniques are no w allowing genes or fragments of genes to be discovered en masse, without knowing the functions of the proteins produced by the genes. There is concern that if these genes are patented it would discourage other scientists from doing research using the same genes.

Earlier this year, for example, a U.S.-based company, Human Genome Sciences, was granted a patent on a gene for a protein that turned out to serve as the entry for the Acquired Immune Deficiency Syndroms virus to infect cells, even though the company did not know what the gene did at the time. The gene's function was subsequently discovered by other researchers. Despite this, this company can now receive royalties on any drug that targets this entry portal - or even block development of such a drug.

Under the current U.S. patent law, companies have filed for patents in massive numbers without knowing the functions of many genes, claiming that, at a minimum, they can be used as animal feed. Some of these patents have been granted and applications are pending for more than half a million fragments of genes. While this law is due to be revised with stricter guidelines, critics say the new law also contains too many loopholes.

There are now dozens of companies dedicated to the search for finding and patenting genes. And there are others devoted to more esoteric - if possibly more immediately profitable - activities related to genetic information. Thus there is a company called Oxford Ancestors that offers to tell people which of 30 founding human lineages they belong to, based on their DNA.

Of course, all this should not detract from the undoubtedly huge medical advantages that will spring from the current discoveries. But it should certainly indicate that there has to be much more public awareness about the implications of such scientific activity, as well as greater social control over it. Otherwise, the possibility of a science-fiction horror story may not be entirely fanciful.