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Rio 2016 introduces tests to hunt for genetically modified athletes

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WHY THIS MATTERS IN BRIEF

In the not so distant future drugs cheats will give way to gene cheats, and WADA plans on catching them all – eventually.

 

Mention Erythropoietin to most people on the street and they won’t have any idea what you’re talking about. It took over a decade from the time that US biotech firm Amgen managed to create a synthetic version of the blood boosting hormone before world anti-doping agencies managed to create a reliable test for it and during those ten years EPO, as it is now better known, became the go to drug for sports cheats. From elite cyclists and athletes to swimmers, they queued up for it and then, once the test had been developed and hundreds of professional sports men and women had been caught using it, everybody suddenly heard of it.

The unfortunate fact is that most drug regulators are usually playing catch up to drug users – it’s an arms race in the truest sense of the word so it’s with great aplomb that officials at the Rio Olympics are trialling out a test for a doping method that athletes might not even be using yet – the genetic manipulation of the body’s own cellular machinery, or, as it’s rapidly becoming known “Gene doping”.

“We feel there’s a great risk that this novel technology will be used, and perhaps already is being used,” said Carl Johan Sundberg, an exercise physiologist at the Karolinska Institute in Sweden who reviewed the new test for the World Anti-Doping Agency (WADA), “so we are being proactive for the first time.”

 

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Some argue, against the furore that erupted around WADA’s treatment of the Russian Olympic team, that they’re possibly too proactive. Steroids, which are used to help build muscle mass and speed recovery from rigorous training efforts are easy to come by. Order them from an online pharmacy, then look up the best dosage and timing to avoid tripping a positive test. But inserting a snippet of DNA into your tissue or muscle so that it’ll make a hormone itself? You’ll  need someone that’s read a few more books.

“Paediatricians and immunologists already know how to use these technologies to improve human performance,” Sundberg said at an interview at the EuroScience Open Forum in Manchester, England. But even Sundberg acknowledges that no one has any evidence of gene doping – yet.

WADA’s just trying to get ahead and with the pace of progress with these technologies, such as CRISPR-Cas9, a gene editing technique so advanced it’s often referred to by experts as the “Genesis engine”, accelerating, many would argue that they’re right to be proactive and try to get ahead of the cheats. It’s already known that unscrupulous athletes scour academic and commercial labs in order to obtain the latest substances that might give them the edge they need and those labs include gene therapy labs.

“We have more than 1,000 clinical trials underway for various diseases,” he says.

“We also have animal work prior to the human trials and there are a number of groups around the world that know what to do with gene therapy in animals who might support those athletes.”

Take EPO for example. Under normal circumstances, human kidneys pump out EPO when the blood’s oxygen supply is running low, for example, when you’re climbing a mountain. The hormone triggers production of more oxygen carrying red blood cells so even at a basic gene doping level and, hypothetically, someone could insert genes that would help the athlete’s body make more EPO than their body’s natural ability giving them a significant advantage.

 

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Until now, WADA officials have been quiet about the details of the new EPO gene doping test being used in Rio. Developed by Anna Baoutina, a molecular biologist at Australia’s National Measurement Institute who used to work in Russia her test has two parts.

The first part checks for the virus a scientist would use to deliver the new DNA to the body. Viruses are a good vector for gene delivery, after all that’s already how they work, so it’s just a matter of replacing the viral genetic material with whatever you want to insert.

The second part of the test sequences a person’s EPO genes. A normal stretch of DNA in the body has sequences called introns between the genes that produce the EPO protein. But an artificial DNA sequence has all the genes right next to each other – no introns.

“This sequence that you introduce in gene therapy looks different than the one in your body,” Sundberg says.

All this sequencing introduces a new level of complexity into drug testing. It takes a lot more technology and expertise to look for genes such as sequencing machines, computers, and the people who know how to use it all, than it does to hunt for chemical byproducts in blood or urine.

For Rio, all the samples have to go to Sydney – to the only lab in the world that can run the test and the results won’t be available until a month or two later, which could get tricky if a medalist turns out to have used genetic modification eight weeks after the Games finish.

 

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Furthermore EPO isn’t the only gene a doper could enhance. They might try for insulin growth factor to boost muscle growth, or vascular endothelial growth factor, which makes more blood vessels in the heart and many, many more besides.

But that’s why it makes sense for WADA to try to get out in front of the oncoming onslaught. Technicians from the agency just retested several hundred samples from the 2008 Beijing and 2012 London Olympics using methods that weren’t available back then. Nearly 8 percent came back positive for metabolites of various steroids, much worse than the 1 percent failure rate reported after the Games.

“That’s probably a more accurate figure,” says Arne Ljungqvist, former chairman of the International Olympic Committee’s medical commission and former WADA vice president who also spoke in Manchester.

“But it means nine of 10 athletes are clean.”

So the arms race continues and we can be certain of one thing – it won’t be long until we see headlines about the discovery of the first gene cheat, then, perhaps, drug cheats will become a thing of the past… but that’s not the end of the story. What happens when the first designer babies are born – people whose DNA has never been modified because it was handed down by their parents? As we race headlong into the age of genetic manipulation and engineering the only thing that we know is that this things are about to get much, much more complicated and I for one look forwards to watching the first olympian to break the 5 second 100m sprint record.

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