On the threshold of a brave new world

By Carol Clark
CNN Interactive

Information on DNA is written in a four-letter code with each letter corresponding to DNA's chemical components, adenine (A), thymine (T), cytocine (C) and guanine (G). Each band above represents one of the letters.

(CNN) -- Two separate groups of researchers published the results of their quest to produce the master blueprint of a human in scientific journals on February 12, 2001.

The private U.S. research team, Celera Genomics, published its results in the U.S. magazine Science. The findings of the publicly funded Anglo-U.S. Human Genome Project were released simultaneously in the British journal Nature.

The researchers said they have learned that humans have only about 30,000 genes -- far fewer than was previously thought -- and that the genetic differences between any two people are relatively small.

The database opens the door to the possibility of tailor-made treatments based on an individual's unique genetic makeup, and the use of gene therapy to cure, or even eliminate, devastating inherited disorders. It could also lead to a brave new world of "designer" babies and genetic discrimination.

Despite the ethical uncertainties and technical challenges ahead, the 10-year effort to unlock the mystery of our biological essence is being hailed as one of the greatest scientific undertakings of all time.

The race to sequence the human genome pitted the international, public consortium against the private, upstart laboratory. The competition ended in a draw, with both sides announcing that they had finished rough drafts of the human genome at press conferences in Washington and London on June 26.

"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, a consortium of 1,100 scientists from four large genetic centers in the United States, the Sanger Center 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.

Some tasks still have to be done by hand. Researchers transfer DNA on the plate to pipettes where it replicates, making it easier to sequence.

Researchers used powerful computers to sort through the 3 billion bits of DNA contained in every human cell to identify the 30,000-40,000 genes 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'

A computer monitor displays DNA being sequenced. The four colors represent the four chemicals that make up the instructions for DNA.

"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 20,000-30,000. 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 to eventually lead to more effective therapies for everything from cancer to overeating. Individuals can be also 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 drug stores," 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 greatly reduce the time and effort involved.

Patenting genes

Bubbles represent all the information contained in a gene. Proponents of gene patents argue they are simply patenting a database of information.

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.

U.S. President Bill Clinton and British Prime Minister Tony Blair issued a joint statement in March 2000 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.

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 to eventually cash in on its findings, perhaps through applying for patents on individual genes.

"People think that patenting genes is patenting life, that's the cliche you constantly hear," Venter told CNN. "But genes are not life. They're just strips of chemical information that can be used in lots of important ways."

By June 2000, the U.S. Patent and Trademark Office had awarded 2,000 gene patents and had 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'

Genetic research is not without risks. Eighteen-year-old Jesse Gelsinger died in 1999 after undergoing experimental gene therapy.

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," 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 2000 because of the death of a research subject.

Eighteen-year-old Jesse Gelsinger died in September 1999 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."

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