Even allowing for President Clinton's fondness for theatrical presentation, the event staged in the East Room of the White House on June 26, 2000, attended by the ambassadors from the UK, Germany, Japan and France and, via satellite, by Tony Blair, the British prime minister, was an occasion of high drama and hyperbole. Two centuries before in that very room, said the president, Thomas Jefferson and Meriwether Lewis, the explorer, had spread out the map that had "defined the contours and forever expanded the frontiers of our continent and our imagination".
Today, "the world is joining us here in the East Room to behold a map of even greater significance. We are here to celebrate the completion of the first survey of the entire human genome. Without a doubt, this is the most important, most wondrous map ever produced by humankind." More than 1,000 researchers from six nations "had revealed nearly all three billion letters of our miraculous genetic code". It was a "stunning and humbling achievement", an "epic-making triumph of science and reason".
Humankind, said the president, was "on the verge of gaining immense, new power to heal. Genome science will have a real impact on all our lives - and even more, on the lives of our children. It will revolutionise the diagnosis, prevention and treatment of most, if not all, human diseases." Alzheimer's, Parkinson's, diabetes, cancer ? the days of all such diseases, said Clinton, were numbered. His enthusiasm was infectious. At his side stood Craig Venter, the president and chief scientific officer of Celera Genomics Corporation, which had worked alongside the public effort to sequence the human genome.
"As a consequence of the genome efforts that you've heard described ... this morning and the research that will be catalysed by this information," he said, "there's at least the potential to reduce the number of cancer deaths to zero during our lifetimes." It was a big claim. A decade on, however, that optimistic prognosis has yet to be fulfilled. Fierce debate has been sparked by a series of articles in The New York Times pointing out that, although the genome has yielded one surprise after another for scientists, "medicine has yet to see any large part of the promised benefits" and the human gene map has produced "few new cures".
Patrick Moore, the American Cancer Society professor at the University of Pittsburgh Cancer Institute and director of the institute's molecular virology programme, says the public expect too much from the human genome project, but concedes that scientists are in part to blame."It's a trap that scientists and science journalists frequently fall into," he says. "The work that they do is often complex and difficult to explain. To keep the audience - ie taxpayers - interested, scientists sometimes make claims that are, if not outlandish, at least unwisely overenthusiastic.
"To get funding for the human genome project in 1987 - which almost no lay people understood at the time - scientists had to make claims that this was the key to curing cancer. Indeed it almost certainly is, but it is only the first necessary step on a long road." Science, agrees Melvin Schindler, an emeritus professor of biochemistry and molecular biology at Michigan State University, is a process: "The challenge faced in communicating science to the public and the politicians is that a process doesn't necessarily imply a solution."
While the human genome project was undoubtedly a tremendous engineering achievement, he says, "the science of understanding how the components function together in pathways and networks to arrive at a physiological response tempered by the unique physiology of each human being is still at the crawling stage". Science journalists have also played a part in talking up the genome. Marcelo Leite, the science writer for the Brazilian newspaper Folha de São Paulo and a former Nieman Fellow at Harvard University, has criticised the coverage of genomics in high-impact journals such as Nature and Science for raising "disproportionate expectations among the general public about fast and revolutionary drugs and breakthroughs in biomedicine".
In 2003, when the genome draft was finalised, an article in Science by three of the "world genomic celebrities" - the leaders of the three main institutions, the US National Human Genome Research Institute, the US Department of Energy and the Britain's Wellcome Trust - was "hyperbolic", Leite wrote in the journal Genetics and Molecular Research the following year. It had featured "plenty of references to revolutions, new eras, visionary adventures, monumental scales, eternal benefits to mankind, exciting scientific challenges ? the ill-disguised purpose of the text was to justify and secure a continuous flow of research money, so that old promises could finally be met".
Without doubt the article, The Human Genome Project: Lessons from Large-Scale Biology, was a call to alms. "The millions of people around the world who supported our quest to sequence the human genome did so with the expectation that it would benefit humankind," wrote Francis Collins, Aristides Patrinos and Michael Morgan. "Now, at the dawning of the genome era, it is critical that we encourage the same intensity towards deriving medical benefits from the genome that has characterised the historic effort to obtain the sequence. If research support continues at vigorous levels, we imagine that genome science will soon begin revealing the mysteries of hereditary factors in heart disease, cancer, diabetes, schizophrenia, and a host of other conditions."
Research support, however, is not continuing at anything like vigorous levels, says Prof Moore. "Right now, I am both tremendously enthusiastic and disappointed with the human genome project. It is like we've taken the ball to the 95-yard line in American football and then said, 'Well, that's close enough', and begun to cut-off funding for science to exploit this information." He has the human genome project to thank, he says, for his discovery in 2008 of a virus that causes a deadly type of skin cancer, but says exploitation of the genome has been stifled by the socio-economic realities of the medical marketplace.
"The past six years have been among the lowest levels of funding for individual scientists and so the breakthroughs that already have been made have been all the more remarkable." The biggest research budgets are wielded by pharmaceutical companies but, he says, left to their own devices they will "fail to address critical public health concerns. Often this is not because they won't make money doing so, it is just that they make much more money by not doing so."
He has an example close to his heart - and to the region. Sixteen years ago he and his wife, Yuan Chang, discovered a virus that causes Kaposi's sarcoma, a relatively common tumour in the UAE and other Middle Eastern countries. "Basic research has fully dissected the virus, there are research tests to detect infection, there are drugs that have been proven to be effective in preventing it and we have very good ideas about how to make a vaccine to prevent it."
But although Kaposi's sarcoma is now the leading cancer of adults in sub-Saharan Africa, it is uncommon in the US and Europe and "medical test and drug manufacturers can make a profit by developing interventions but they don't because these aren't likely to be multibillion-dollar blockbuster products. Michael Farzan, an associate professor of microbiology and molecular genetics at Harvard Medical School, says he has no doubt that Clinton struck the right note back in 2000.
"This was a landmark achievement," he says, "greater, for example, than landing on the Moon. "Ten, 20 years from now we will not be questioning the importance of the genome project and its impact will grow greater with every year." The key problem "is not the message from scientists or Clinton's statements [but] the large lead time it takes to develop a new therapy from the time a discovery is made ? a lot of the discussion simply doesn't appreciate how long it takes for things to get to the clinic".
But get there they will, he is sure. "Every medical researcher I know refers constantly to the data in the genome." Examples abound, he says, though largely away from the public gaze. In 2003, Prof Farzan and his team identified the specific cellular receptor the Sars virus needed to enter human cells. "We identified this receptor fishing it out [from cells], digesting it with enzymes and comparing the resulting fragments to a database of all human genes. We could not have done this in 1998, when we only knew about five to 10 per cent of total genes."
Prof Moore agrees that, "in essence", Clinton was right. "Genomic science does provide the possibilities for revolutionising medicine. This will take time and in the next decade I strongly suspect that many remarkable medicines will be based on genome project data." What is needed is education to better manage expectations. "If the general public was better informed about science and the workings of scientific research, it would be easier to get more sustainable research funding, the quality of the research would be better, and the public's anticipation about what can and cannot be realistically achieved would be more appropriate."
Although the genome "can give us clues to disease targets, it then takes years to actually make a drug or vaccine that will effectively treat the disease. For example, HIV was discovered in 1983 and only through a concerted effort were effective drugs developed between 1996 and 1998, 12 to 15 years later." By comparison, it had been only 10 years since the genome project's completion - and it had focused on the DNA sequences of healthy people.
"For the genome project, we know the sequences of a few tissues in a few healthy persons but we do not necessarily know the genome sequences for a cancer, or a predisposition to heart disease or depression. These studies could take decades more research and then, once precise targets are found, additional time to make effective drugs." The potential is there, he says, to speed up the process; sequencing "is like computer technology: every year we can sequence far more, for far less. Not all of this sequencing is done wisely or efficiently but we are now orders of magnitude ahead with sequencing technologies than we were 10 years ago.
"Now that the genome map is complete, these studies might be able to be completed faster than anyone ever anticipated - if there is money available for the research." jgornall@thenational.ae