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Mapping mankind's future
Decade-long effort to unlock mystery
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Dr. Michael Dexter of the Wellcome Trust says the genome project shows us our "common humanity"
Researchers at the Sanger Centre say genome sequencing is the beginning of a new journey
That database opens the door to many medical possibilities. It could produce tailor-made treatments based on an individual's unique genetic makeup. Or it might lead to creating "designer" babies, in which parents and doctors can select the characteristics children inherit. Doctors might also be able to use gene therapy to cure, or even eliminate, devastating inherited disorders. In gene therapy, researchers replace or fix a gene that causes a disease.
Despite the ethical uncertainties and technical challenges ahead, the 10-year effort to unlock the mystery of our biological essence was hailed as one of the greatest scientific undertakings of all time.
Discovery process to accelerate
At a White House press conference, President Clinton said, "This is the most important, most wondrous map ever produced by humankind. I congratulate all of you on your achievement."
The race to map out, or sequence, the human genome pitted an international, publicly funded consortium against Celera Genomics, a private, upstart laboratory. The competition appears to have ended in a draw, with both sides announcing their achievements at the same time.
"It's hard to overstate the importance of reading our own instruction book, and that's what the Human Genome Project is all about," Dr. Francis S. Collins, director of the National Human Genome Research Institute in Bethesda, Maryland, told CNN.
Collins heads the Human Genome Project, the publicly funded consortium of 1,100 scientists from four large genetic centers in the United States, the Sanger Centre near Cambridge, England, and labs in France, Germany, China and Japan.
The international team -- financed primarily by the National Institutes of Health in the United States and the philanthropic Wellcome Trust in London -- began working on sequencing the human genome a decade ago.
Researchers used powerful computers to sort through the 3 billion bits of DNA contained in every human cell to identify the 80,000 to 100,000 genes that determine our inherited physical traits and many of our behaviors.
Now that the human genome has apparently been sequenced, scientists can use the information to try to decode the set of instructions contained in each gene.
The next step is the "interpretation phase," said Craig Venter, president of Celera Genomics in Rockville, Maryland. Venter said his private laboratory has completed its own gene-sequencing project simultaneously with the Human Genome Project.
"We finally have the complete order of all the layers of genetic code, and [now] we have to discover what it all means," Venter said.
"You're going to see a proliferation of discoveries about the genetic contributions to diabetes and heart disease and high blood pressure and schizophrenia and multiple sclerosis and on down the list," Collins said. "Conditions that we know have genetic contributions but which have been rather difficult to nail down, this set of power tools that the genome project is producing will accelerate this discovery process rather dramatically."
'A whole new frontier'
"It's comparable to Darwin's theory of evolution," said Dr. Steve Kay, a geneticist at the Scripps Research Institute in La Jolla, California. "I have never, ever been so excited at the rate of change we're experiencing in biology. This opens a whole new frontier."
Before the sequencing of the genome, scientists studying genetics were essentially "watching a soap opera on a TV screen with only two or three pixels illuminated," Kay said. "Now, lots more pixels are filled in, and we'll get a much more clearer picture. Instead of looking at two or three genes at a time, we'll be able to observe groups of 20,000 to 30,000. It gives us a global view of biology, enabling us to understand much better how a cell works."
The sequencing of the human genome is expected eventually to lead to more effective therapies for everything from cancer to overeating. Individuals also can be screened to determine whether they are at risk to develop certain diseases or whether they might react adversely to a particular drug.
"It will be a long time before each of us has our own genetic bar code when we go into the drugstores," Kay said. "But not that far away is the ability to develop more drugs a lot more quickly."
It takes an average of $500 million and 14 years to get a drug to market, Kay said, partly due to the problem of adverse reactions that set back progress of clinical trials. The ability to scrutinize the genes of individual test subjects is expected to reduce the time and effort involved.
Patenting genes
As private laboratories rush to tap the gold mine of the human genome, legal quandaries, such as who owns genetic information, are coming to the forefront.
Clinton and British Prime Minister Tony Blair issued a joint statement in March declaring that the basic information on the human genome is public property.
"To realize the full promise of this research, raw fundamental data on the human genome, including the human DNA sequence and its variations, should be made freely available to scientists everywhere," the Clinton-Blair statement said.
"Unencumbered access to this information will promote discoveries that will reduce the burden of disease, improve health discoveries around the world and enhance the quality of life for all humankind," they said.
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Each human cell contains 3 billion bits of DNA. |
The statement added, however, that "intellectual property protection for gene-based inventions will also play an important role in stimulating the development of important new health-care projects."
Celera Genomics has made it clear that it entered the gene-sequencing race intending eventually to cash in on its findings, perhaps through applying for patents on individual genes.
"People think that patenting genes is patenting life -- that's the cliché you constantly hear," Celera's Venter recently told CNN. "But genes are not life. They're just strips of chemical information that can be used in lots of important ways."
The U.S. Patent and Trademark Office has so far awarded 2,000 gene patents and has more than 25,000 patent applications on human genes pending.
"People seem to assume that there's some nefarious reason for getting patents on genes," Venter said. "It's treated like it's some evil thing that industry is doing, [but] if industry wasn't doing that, we would not have any new treatments."
'The results should not be hyped'
The U.S.-led international genome project set aside 3 percent of its budget to study the implications of the commercialization of genome research and the other ethical, legal and social issues associated with the discoveries the research likely will generate.
Among the key questions the project has identified are:
- Should insurers, employers, courts, schools or law enforcement agencies have access to an individual's genetic information, and how should it be used?
- Should people be tested to determine whether they might later develop a disease if there is no cure for that disease?
- Should fetal genetic testing extend beyond the health of a baby, to screen for desirable physical and mental traits?
"Politicians and medical policy makers are going to have to do a lot of catch-up to keep pace with the science of genetic research," geneticist Kay said.
The potential benefits of gene-based treatments do not come without risk. The Food and Drug Administration shut down gene therapy trials at the University of Pennsylvania in January because of the death of a research subject.
Jesse Gelsinger, 18, died in September after receiving an experimental gene therapy for an inherited liver disease, OTC deficiency. His father, Paul Gelsinger, testified at a U.S. Senate hearing that the researchers acted irresponsibly and downplayed the risks involved when his son agreed to become a test subject.
"When lives are at stake, when my son's life was at stake, money and fame should take a backseat," Gelsinger testified. "The concern should not be on getting to the finish line first, but making sure no unnecessary risks are taken, no lives filled with potential and promise are lost forever. No more fathers lose their sons."
Ruth Macklin, a professor of bioethics at the Albert Einstein College of Medicine in New York, said that the first social responsibility in regard to the human genome breakthrough is to not give people false hopes that all their health problems will soon be solved.
"The results should not be hyped," she said. "The first gene transfer research was done in 1990 [for cystic fibrosis]. There has been very, very, very little progress. After 10 years of research, there is still no cure. It's true that genetic information is a new and growing area, but people should not hold it up as if it's a magic bullet."
RELATED SITES
Human Genome Project
Human genome sequencing
CDC's Office of Genetics
Institute for Genomic Research
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