The questions raised by the authorization of genetic tests to fight against doping

The subject was surely worth a little more than the few hundred deputies present (out of 577) in the hemicycle, but if we start to stop at the presenteeism of our elected officials, we risk not talking about much. Last week was discussed in the National Assembly article 4 of olympics billaimed at transposing the provisions of the World Anti-Doping Code into French law.

Nothing fancy said like that, but it is in fact the possibility of carrying out genetic analyzes during doping controls, something that has been prohibited in France until now. It will be now, and not just the time of the Olympics as wanted by elected officials from the opposition, after the adoption of the bill as a whole on Tuesday. Should we be worried about it? What are we talking about exactly? We summarize everything you need to know on the subject.

Why resort to genetic analyses?

From the beginning of the 2000s, the World Anti-Doping Agency (WADA) pointed out the risks of manipulation of their DNA by athletes in order to improve their performance. It therefore included in the World Anti-Doping Code the use of genetic analyzes to complete the arsenal of controls. “It’s the only way to detect gene doping,” says Jérémy Roubin, secretary general of the French Agency for the Fight against Doping (AFLD). But that’s not all. These analyzes also allow three things:

First of all, “to improve existing techniques with a much more robust method, which provides perfect proof of doping”, explains the specialist. For example, in the case of homologous blood transfusions (the use of another person’s blood to improve one’s performance), the basic method which relied on comparing the external sensors of red blood cells contained “a margin of error important, of the order of 1 in a few thousand, where the comparison of genetic fingerprints has a margin of error of the order of 1 in several billion, in other words almost infallible”, he explains.

Same spirit for the substitution of samples, that is to say when an athlete tries to pass off the sample of a third – own – as his own. “Genetic analysis is the only absolute way to ensure that sample 1 taken in March and sample 2 taken in June supposedly from the same athlete are in fact from two different people. »

Finally, recourse to the genome of athletes can be used to prove their innocence. Some suffer from natural genetic mutations, which have the effect of creating false positives. The best-known case is that of the “Asian variant of EPO”, which highlights the positive test for this hormone which stimulates the production of red blood cells when the athlete who is affected has not taken any. Genetic analysis provides proof of the mutation.

What do these analyzes consist of?

First thing to know, they do not change anything for the athlete. No cotton swab in the mouth or nose, it is always urine and blood that are collected. The samples are “simply” subjected to further analysis. Next, the detection technique obviously does not apply to the entire human genome. It’s explicitly forbidden by law, and it wouldn’t be a waste of time anyway. “The research is only focused on what are called genes of interest, that is to say those that are of interest for sports performance: the EPO gene or the growth hormone gene, for example. “explains Jérémy Roubin.

Insufficient not to worry about it, say elected officials. “The goal is laudable but the technique is problematic, recalled the socialist Marietta Karamanli during the debates in the Assembly. The provisions in force in our country authorize the examination of the genetic characteristics of a person only for medical purposes or scientific research. They have been enshrined in bioethical laws after having been the subject of real public expertise. This article returns to these principles. »

Is gene doping a real risk? And what exactly are we talking about?

Gene doping consists of modifying one’s genetic heritage to stimulate the endogenous (and therefore undetectable) production of a prohibited substance, such as EPO or growth hormone. Over the past ten years, warnings from scientists have multiplied. In 2013, the Senate set up a commission of inquiry into the effectiveness of the fight against doping. In his report, he mentioned “a risk of proven genetic doping”. “And since then, it has continued to strengthen,” said the leader of the AFLD. Genetic therapies [un procédé utilisé en médecine qui repose sur l’introduction d’un matériel génétique dans des cellules pour soigner une maladie] improve, and as in the whole history of doping, the more progress we make in an area the more there is a risk of misuse of the technique to improve sports performance. »

With detection techniques historically lagging behind those of cheaters, anti-doping agencies around the world are currently working to find new methods or improve existing ones. The AMA has regularly launched calls for projects in recent years, and the AFLD has set up an internal working group on the issue. “Today, gene doping is probably not within the reach of ordinary people, but it is possible”, maintains Jérémy Roubin. No positive test has been reported to date.

Why is this a problem in France?

Until now, these tests were not authorized in France, except as provided by law. And doping detection was not one of them. However, they are provided for in the World Anti-Doping Code, and when a country hosts the Olympic Games, it is obliged to respect it. “It is an obligation for the Games, we must comply and this in a sustainable way”, moreover underlined the Minister of Sports Amélie Oudéa-Castera before the Assembly, pleading at the same time for France remains “at the forefront of this struggle”.

Because that is another issue. The French anti-doping laboratory (LADF), historically one of the most advanced in the world (it was in Châtenay-Malabry that the EPO detection test was developed in 2000), has lost its reputation in these years, in particular because of the ban on working on these tests. It was the only one in this case, according to the AFLD, among the 30 laboratories accredited worldwide by WADA.

The JO law will allow him to remove this obstacle, and to put an end to certain incongruities, recalls Jérémy Roubin. For example, the tests carried out at Roland-Garros are sent – ​​at the option of the International Tennis Federation – to the Montreal laboratory, which has the possibility of carrying out genetic analyses. In general, it is the international federations who manage the anti-doping controls of the world’s best in their discipline. “We therefore have athletes checked, including at their homes in France, whose samples can be sent to a laboratory abroad where genetic analyzes will be carried out”, illustrates our expert.

The latest World Anti-Doping Agency symposium in Lausanne took place on March 14, 2023.
The last symposium of the World Anti-Doping Agency, in Lausanne, took place on March 14, 2023. – AFP

What are the safeguards?

This is the main concern of French elected representatives. There is the question of the athlete’s consent, which must be clearly established, and that of the use of genetic data. Let us first look at what is written in the famous article 4: “The planned analyzes are carried out on pseudonymized samples and relate only to the relevant parts of the genome. The data analyzed cannot be used for the identification or profiling of athletes or for the selection of athletes based on a given genetic characteristic. »

“The laboratory does not have access to the identity of the athlete, and the agency ordering the test does not have access to his biological data, and even less genetic, translates Jérémy Roubin. There is a sort of Chinese wall between the two operators. The second safeguard, even more important, is that there is no file made up from the data collected. “They do not leave the machine, are not interconnected with any file, are not stored and cannot be queried,” explains the expert. Unlike, for example, the National DNA Fingerprint File (FNAEG), a DNA fingerprint database used in the police and justice sector to identify the perpetrators of certain offenses and missing persons.

As for consent, it is provided for by law and in any case induced. When an athlete takes out a license, he agrees to comply with the anti-doping rules provided by his Federation. Same thing when he registers for a competition. It’s a block deal.

What does the National Consultative Ethics Committee think?

CCNE is an authority on ethical issues and societal issues raised by scientific progress. Solicited by us, he believes that “this project does not derogate from the laws on bioethics”. There are several reasons for this: there is consent from the person with prior information, these are analyzes targeted on a question asked, and there is no storage of samples for later use or discrimination-selection. from the genetic data obtained.

The CCNE simply wonders about the speed with which the implementation of these tests must be carried out in view of the 2024 Olympic Games, while recognizing that there is not really a choice with regard to “the scientific literature which since several years questioning these genetic doping practices” and the World Anti-Doping Code.

A reservation, however, raised by “an inverse problem, when the anomalies observed are not artificially obtained but result from natural characteristics”. The well-known case, for example, of Caster Semenya, the South African middle-distance runner who crushes the competition thanks to a very abnormally high level of testosterone (the male hormone). The scientific and legal battle around her case to determine whether or not she has the right to participate in international competitions is not about to end, and could even proliferate, believes this expert. “It is to be feared that genetic anti-doping tests will give rise to controversies where the parties involved will clash with a lot of contradictory expertise,” he concludes.



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