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Monday, Feb. 12, 2001

Two independent groups of researchers who have invested years of effort to spell out the human genetic code will report their labors Monday, with special issues of the journals Nature, based in London, and Science, in Washington, to be published later this week.

"In order to use this [genome information] wisely, people have to pay attention and they have to be involved in the discussion of how it's going to be used," geneticist Robert Waterston told United Press International. Waterston, a co-author on the main Nature paper, is head of genetics as well as head of the genome sequencing center at Washington University in St. Louis.

The independent efforts by the international Human Genome Project and commercial venture Celera Genomics of Rockville, Md., have performed similar experiments and reached similar conclusions.

Arguably the biggest surprise among the findings is that far fewer genes exist in human programming than predicted – roughly 30,000 instead of the 100,000 figure bandied about for years. Of those, about 3,000 may lend themselves to medical use. About 1,000 genes, when they exist in certain altered forms, are currently associated with disease conditions.

Mark Adams, vice president for genome programs at Celera Genomics, told UPI, "If either one of us had come out with this claim about the number of genes there probably would have been a number of skeptics. But now the fact that it has been replicated already is great." Adams is a co-author of Celera's paper in Science this week.

At this point, researchers have elucidated the exact chemical sequence of more than 95 percent of the genetic essence of humanity. The discovery of the functions of new genes is also well under way.

Major practical applications are expected to come from the formulation of new drugs based on a knowledge of the chemistry of the genes, the proteins they produce and the physiological pathways of those proteins.

Molecular geneticist Leena Peltonen of the Department of Human Genetics at the UCLA School of Medicine spoke to UPI about some of the implications.

"There must be thousands of [physiological] pathways or cascades of which we have been unaware. Now the pharmaceutical companies can tackle those novel cascades and novel pathways, increasing the amount of information about individual cells. What will come very soon, I predict, is that we will learn in the immediate future how individuals differ in their responses to already very well known drugs." Peltonen's paper, "Dissecting Human Diseases After the Human Genome Projects," is in this week's Science.

Genetics experts say treatment of cancer, heart disease, diabetes, alcoholism and drug addiction will likely benefit first and most directly from genomics information.

"Scientists have been able to recognize the genes behind genetic disease," Waterston told UPI. "This represents a giant, giant step forward in that process so that we can vastly accelerate the pace of discovery of genes that are responsible for human disease and what makes us human."

"There will be an awful lot of people now trying to take this information and apply it to human health and that's great," Adams told UPI.

Eric J. Nestler, chair of the department of psychiatry at the University of Texas Southwestern Medical Center, spoke to UPI about the translation from a genome map into practical applications." It may take something like 20 years to really have the knowledge of addiction that is necessary in order to develop definitive treatment," he said.

"But I'm more optimistic. And I would normally use the five- to 10-year term to describe a process by which the discoveries of the biology and genetics of addiction would lead to a rational process and development of more effective medications," Nestler said. Five to 10 years of clinical trials would follow such discoveries. Nestler's paper, "Learning about addiction from the genome," appears in this week's issue of Nature.

In a less publicized impact, the genome project should also advance understanding of the biological rhythms that repeat on a daily basis in humans, called circadian rhythms. Researchers have already used computer programs to search the entire three-billion base-pair genome and found a new gene that has large elements identical to other genes involved with controlling circadian rhythms, researchers report in this week's issue of Nature. Some scientists expect additional research to lead to treatments for sleep disorders and jet lag.

Most researchers also predict genetic diagnosis and disease-risk assessment will expand rapidly, much of it leading to serious decisions for patients. "If we know that someone has a predisposition from early childhood on we can provide them with information about life styles that will reduce their health risks," Peltonen told UPI.

Privacy advocates warn of a dark side, however, in which employers, insurance companies and other organizations may make business decisions – hiring practices, for instance – based on individuals' genetic profile.

The potential for misuse is not just theoretical. Last week a major insurance firm in England admitted to illegally using genetic screening to deny insurance to applicants.

In the wake of that revelation, government regulation – or at least calls for it – is a logical outcome to control the misuse of the information. On the other hand, governments themselves may misuse the information to classify and discriminate against individuals, privacy advocates point out.

Don Kennedy, editor in chief at Science, which is publishing 25 articles on the human genome this week, spoke to UPI about the potential for misuse. "There's plenty of [potential]. It's not only in the area of insurance. It's in the area of employment. It's in the area of simply how much we want other people to know about ourselves. And I'm sort of a privacy hawk myself, so I really think we ought to be terribly cautious about any proposal that would either inhibit or enhance one's social or economic opportunities because of findings about their genetic constitution," Kennedy said.

As for the broader picture of genetic characteristics, many scientists stress repeatedly that the one-gene-one-disease model, or one-gene-one-trait, is far from what will emerge in most cases. Much more likely is a complex system of gene interaction that produces most health problems and traits.

"There is no gene for violence," for example, said John Crabbe, a behavioral neuroscientist at the Veterans Administration Medical Center of Oregon Health Sciences University, Portland. "Violence is too complicated for there to be a gene that's going to explain it."

The Human Genome Project received grants from governments and charities in the various countries and cost approximately $300 million worldwide – about half funded by the U.S. government – to produce the genome map. The consortium includes scientists at 20 institutions in France, Germany, Japan, China and Britain as well as the United States.

A Celera official declined to specify how much the company spent in its commercial effort.

Copyright 2000 by United Press International.