The quest is for the Holy Grail of modem science—a multibillion-dollar international crusade to map in meticulous detail the hundreds of thousands of bits of information that make up the human genetic code, or genome. Scientists say that the information they hope to discover will offer clues to the causes—and possible cures—of more than 4,000 inherited diseases, as well as many others with suspected genetic links, including heart disease, schizophrenia and Alzheimer’s disease. Others predict that the 15-year project will ultimately allow people to know, and perhaps change, their genetic makeup—or the genes of unborn children. The project has prompted debate in some medical circles over its ethical implications.
Indeed, some scientists say that the growing fund of genetic knowledge could lead to human rights infringements if people are rejected for jobs or insurance policies because of flaws in their genetic makeup. At the same time, some Canadian scientists say that bureaucratic wrangling has helped to stall efforts to secure funding for a Canadian role in the massive project.
Expected to cost up to $4 billion over the next 15 years, the U.S. Genome Project, launched in 1989, has
grown into an international effort in-
volving the work of an estimated 3,000 scientists in the United States, Europe, the Soviet Union and Japan. Now, Canadian scientists say that they will need up to $150 million to fund a Canadian contribution to the genome map during the next 15 years. But Ronald Worton, geneticist-in-chief at Toronto’s Hospital for Sick Children, said that, until recently, various organizations that fund Canadian scientific studies, including the National Research Council, the Medical Research Council (MRC) and the Natural Sciences and Engineering Research Council (NSERC), have as yet been unable to agree on which agency should provide the money, or where the money will come from. One problem is that agencies want specific research proposals, which scientists say they need money to provide. Said Worton: “It’s a fairly complex undertaking that can’t be presented as a
regular research proposal, or funded from the existing pot. So nobody is quite sure where to start.”
The global project that Canadian scientists want to join is aimed at producing, by the early 21st century, a complete so-called map, actually a huge chart, showing the exact molecular sequence of about 100,000 genes, the genetic code-carrying units that are embedded in the deoxyribonucleic acid, or DNA, that makes up the core of human cells. Each gene contains part of the overall genetic blueprint that determines § the physical makeup of all 1 forms of life. The informag tion is encoded in combinations of four chemical IQ “bases,” as scientists call I them—adenine, thymine, 18 guanine and cytosine. Each
piece of genetic information directs cells to produce proteins that determine everything from the height of a man and the color of his hair, to the shape of a woman’s foot and her tendency to develop certain illnesses. In all, a total of three billion DNA bases are involved^ determining human characteristics.
The project that involves charting each the bases and the genes they make up, so that doctors will some day know exactly which gei» is responsible for every function of the human body, is the first comprehensive project to* embrace the science of molecular biology. The brainchild of Robert Sinsheimer, then chancellor of the Uni-^ versity of California at Santa Cruz, the idea attracted the attention in 1986 of. James Watson, the American biologist who, with British biologist Francis^ Crick, discovered the molecular structure of the DNA molecule in 1953. Irii 1988, the Bethesda, Md.-based U.S. National Institutes of Health (NIH) established an office of human genonje research, led by Watson, to co-ordinate American efforts to map the genome.
Despite the delay in establishing4«Canadian contribution to the project, Canada is a highly regarded partied pant in genetic research. Last August, doctors at Toronto’s Hospital for Sick Children located the gene responsible for cystic fibrosis, a fatal disorder that affects one in every 2,000 children and causes excess mucus to clog the lungs and digestive system. The teasn leader was Dr. Lap-Chee Tsui, who says a complete genome map would have allowed the discovery to take place three years earlier. “Right now“, g scientists have to start locating genes 5 again with each new project,” he said. I Tsui and other supporters say the “ proposed computerized map would o eliminate that need, increasing scientific efficiency and enabling small labs to work in complex genetics.
The same hospital’s Worton is a
member of the executive of the Human Genome Organisation, a Geneva-based group of about 250 scientists from two dozen countries that was set up last year to promote international collaboration in the genome effort. Said Worton: “Canada is a world leader, so people naturally ask why we’re dragging our feet on a project that will have huge payoffs for the public and industry.” Last October, Worton helped to write a general proposal for Canadian genome research, which called for grants from Ottawa of between $25 million and $50 million during the next five years.
For his part, Gilles Julien, executive vicepresident of the NSERC, said that part of the reason that no funding had yet been designated for the project was that no one had determined the scope of a Canadian contribution to the Genome Project. His agency, said Julien, could “not hand over an envelope without having a specific project to fund.” In an effort to resolve the ambiguity, the agencies agreed in June to
let the MRC form a task force to review and recommend a potential national role. Lewis Slotin, the council’s director of programs, says Canadian researchers are already doing genome research, but “the question is whether we should associate with this effort—whether we need to join the bigger club.” Slotin added that the MRC hopes to have the task-force recommendations by the end of the year.
Meanwhile, the Genome Project has spawned widespread criticism, including complaints that the huge undertaking may divert funding from other worthwhile oauses. Some scientists say that the factory-like nature of the Genome Project, in which technicians will spend thousands of hours recording data, has caused some scientists to worry that money will ^e diverted from basic science to an essentially technical exercise. For his part, Michael Smith, director of the Wotechnology laboratory at the University of British Columbia, said that he feared that, in Canada, “general scientific research may suffer” if new funding is not allocated, forcing Canadian scientists to pursue genetic research from existing funds.
► At the same time, the information gathered through Research into the human genome poses difficult ethical
questions. One kind of genetic dilemma could emerge when science becomes capable of predicting an individual’s genetic destiny. The anguish that can result from the possibility of possessing such knowledge already affects the more than 13,000 Canadians who are at risk of developing Huntington’s disease, a rare degenerative disorder that usually begins to affect people in their 30s or 40s. Although Nancy
Wexler, an associate psychology professor at New York City’s Columbia University, helped to develop a test in 1986 to determine who will develop Huntington’s, she said that many people “are not mentally prepared to handle knowing a fate they really can’t change.”
Others scientists say that the huge investment of time and money in genetic research will reinforce the controversial theory of biological determinism, which maintains that heredity is the main force that shapes human behavior and social destiny. Proponents point to recent studies that showed striking similarities in the lives of identical twins who were raised apart, appearing to suggest that even an individual’s choice of profession or I his spouse’s name may be £ hidden in his genes. Said % Smith of those worried about “ the ethics and potential abuse of genome research: “The trouble starts when people measure or blame biology for things that really can’t be measured. There isn’t a single gene for intelligence or for football ability.”
As well, some scientists say that a road map of the human genome could open the door to new forms of discrimination. In the future, employers might force job applicants to submit to genetic testing. As a result, applicants with a genetic susceptibility to certain diseases might never be able to find jobs. At the same time, some U.S. insurance companies have already called for access to results of genetic testing by private physicians to help them assess the risks associated with prospective new customers. Insurance companies say they do not want mandatory testing, but admit the results could be useful. Said James Wright, a spokesman for the Toronto-based Canadian Life and Health Insurance Association: “Family histories are already a form of crude genetic testing. Specific tests could prove who is really prone to diseases, making rates more fair for everybody.”
Despite the issues surrounding human genome research, most scientists maintain that the massive effort is more likely to benefit the human race than to harm it. And members of the international scientific community are eager to have Canadian involvement in the project. Norton Zinder, chairman of the NIH genome advisory committee, calls the project “a really exciting global initiative in which Canada is noticeably absent.” Without funds or official support, Canadian scientists say that they may miss the chance to play a part in one of the most important scientific undertakings of the century.
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