Duane Hoffmann / MSNBC
By msnbc.com contributor
msnbc.com contributor
updated 2/26/2006 9:41:15 AM ET 2006-02-26T14:41:15

Speculation about a coming age of genetically modified athletes has been rife for several years. The Turin winter games will probably not mark their debut, but some experts believe gene doping may not be far away.

In March of 2002, the World Anti-Doping Agency (WADA), the multi-national group that leads the fight against performance-enhancing drugs in sports, sponsored a meeting at the Banbury Center, a conference facility at the famed Cold Spring Harbor genetics lab on Long Island in New York. Doping authorities met with genetic scientists to ask if athletes and their handlers would soon be altering their very genomes in an effort to soup up their performance. Was the age of the genetically-enhanced athlete upon us?

The meeting resulted in a good deal of speculation and public fretting, both by pundits and by WADA. But much of that fretting, said experts in genetic science, was misplaced. Using genes to enhance athletic prowess was still far away.

The second meeting to assess the future of genetic tinkering in sport was held in December in Stockholm, but now, says Theodore Friedmann, one of the world’s leading experts on gene therapy to treat disease and the chairman of WADA’s gene-doping panel, “I’m not so sanguine as I was that this is far off in the future.” Scientists studying genetics, Friedmann reports, “often say they are approached frequently by athletes, trainers, entourage-type people asking what is available.”

Recently, evidence submitted at the trial in Germany of Thomas Springstein, a coach accused of doping his athletes, indicated his interest in a still-experimental gene therapy product called Repoxygen.

Still, all that proves is that athletes and coaches are motivated. But is the technology really ready?

Probably not, but, says Larry Bowers, the senior managing director of technical and information resources for the United States Anti-Doping Agency (USADA), the sports world has its eye on the Beijing summer games. “By 2008 there may be tempting possibilities. That might be the time we really need to be more concerned.”

Slideshow: Taking gold Though the idea of reaching into the human body to fix malfunctioning genes is more than 30 years old — Friedmann was one of its first proponents — the technology to actually do it has proved maddeningly elusive.

In May of 2001, for example, French scientist Alain Fischer traveled to the American Society for Gene Therapy meeting in Seattle to trumpet the success of a treatment for severe combined immune deficiency syndrome in children, the so-called “Bubble Boy” disease. A French team had used a virus to insert a corrective gene into the genomes of 11 children and 10 out of the 11 patients improved, sometimes dramatically. The gene therapy worked, one of the first triumphs for the field.

But in succeeding months, and then years, three of the patients contracted leukemia, a direct result of the treatment itself. One died. The U.S. Food and Drug Administration put a “hold” on all similar gene therapy experiments.

Winning at all costs?
“It is very difficult to do gene transfer well,” Friedmann says. “It’s easy to imagine doing it, easy to start injecting this or that in ways not designed to be safe, but extremely difficult to do well and safely.”

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This is what really has Friedmann and others so worried, that athletes and their handlers, with the millions of dollars in sponsorship pay-outs and other income at stake for winning a gold medal, may be so eager to win that they disregard safety.

Both Friedmann and Bowers say, however, that serious progress is being made in the field of gene therapy, especially in genetically modifying cells and then inserting those into the body, and that such progress increases the likelihood athletes will use it.

The advantages of superior genes are obvious. Eero Mantyranta, a Finnish cross-country skier, dominated the sport in the 1964 Innsbruck games, winning two individual golds and a silver in a relay. In all, he participated in four winter Olympics, winning seven medals. Mantyranta was dogged by accusations that he had used a technique called blood doping to enhance his endurance.

By training hard, and periodically removing oxygen-rich blood, storing it, then injecting it back into the body just before competition, athletes can boost the total number of oxygen-carrying red blood cells. As a result, the muscles, starved for oxygen during endurance events like cross-country skiing, hold up better.

But Mantyranta did not blood dope. It was later learned that he, like some other members of his family, carried a natural mutation in the erythropoietin (EPO) gene, the gene that tells the body to make more red blood cells.

Biotechnology has turned EPO into an injectable drug, often used for anemia, and it has become a favorite of endurance athletes like Tour de France riders. But they risk severe sanction if they are discovered. Modifying their own EPO gene, however, would be much more difficult to detect.

A race of technologies
In what amounts to a race of technologies, WADA and USADA are funding research programs aimed at spotting such genetic manipulation. The key, they say, is going to be the body’s “homeostasis,” its normal profile of physiological activity.

The body’s functions are complicated feedback loops. If one gene is overactive, other genes will react to compensate. “The point is, if you push in one place, something gives elsewhere and the job is to find that elsewhere,” Friedmann says. “There will be lots of them.”

Anti-doping authorities envision using a device called a gene chip, or a DNA microarray, custom designed for doping detection. The chip will feature a menu of genes most likely to be affected by altering other genes tied to performance enhancement, like EPO or growth hormone. Just as athletes give urine (and sometimes blood) that is then tested for the presence of certain doping drugs, athletes will give blood to be analyzed by the microarray technology. The DNA material on the chip will serve as canaries in the coal mine and squawk if genes are too active, or not active enough. These results will then be compared to historical profiles of the athlete’s genetic markers that have been established over time to see if something has changed.

According to Bowers, the anti-doping agencies hope to have such a system in place in time for 2008. There may be ways to circumvent even this system, though, by using technologies that will enable athletes to turn genes on and off for short periods. Still, says Bowers, “the hope is that we can identify good enough biomarkers, that even if you just turned it on or off to get benefit, that would, in fact, influence others down stream.”

Though Bowers is optimistic, both he and Friedmann admit there are many unknowns. Will such tests be scientifically and legally defensible? Will some other technology, like new doping drug regimens, slip behind the backs of the doping cops while they are preoccupied with genes? Will gene doping even be possible or will all the research and fretting be a waste?

Nobody can say for sure, but as long as athletes are willing to gamble, sports overlords have to gamble, too.

Brian Alexander, a California-based writer, recently covered the issue of drugs in sports for Outside magazine. He is also the author of the book "Rapture: How Biotech Became the New Religion."

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