What you need to know about gene doping

Photo: SXSW

A groundbreaking and controversial technology is on the horizon for the field of genetics. CRISPR-Cas9 is a relatively new technology that allows for precise editing of a human’s genetic code.

Clinical trials using CRISPR-Cas9 techniques for medical treatment are just beginning this year on humans. It’s being tested for its ability to cure genetic diseases like cystic fibrosis and cancer. The techniques are still a long way from mass adoption until the efficiency of the CRISPR-Cas9 system is improved. However, researchers in nanochemistry at the University of Massachusetts are working hard to advance the technique.  

In the future, it’s possible that CRISPR-Cas9 will be adopted by the world of professional sports and abused to enhance performance. This would be a new avenue for “gene doping”.

On March 11, 2017, Athletigen CEO and founder Dr. Jeremy Koenig spoke on a South by Southwest (SXSW) panel on gene doping titled: “Genetically Modified Athletes.”

As stated publicly, Athletigen doesn’t support or facilitate gene doping.

How could CRISPR be used to unethically enhance athletic performance?

It’s important to understand the difference between gene therapy and gene doping.

Gene therapy is an experimental treatment aimed at curing diseases through repairing existing harmful genetic mutations, or introducing foreign DNA segments into a human.

Gene doping is the abuse of gene therapy to enhance an athlete’s performance. The most notable – and controversial – example of gene doping in recent years surrounds the use of DNA that codes for erythropoietin (EPO), a hormone that increases red blood cell production and oxygen carrying capacity. This approach is still under development and carries many health risks.  

These techniques are still a long way off from enhancing athletic performance. We don’t fully understand the complex interactions between the human genome, its environment and how specific DNA segments affect the human body. We do know that over 200 gene variants are related to athletic performance traits, such as endurance, power, or injury risk. It goes without saying that athletes without these genetic advantages might want to alter their genome for a leg up in their chosen sport. Unfortunately, it’s not as simple as adding in a bit of DNA and gaining an athletic advantage. While human genomics has advanced at breakneck pace in the last few years, we still don’t know what effect changing one or several genes will have on the resulting trait. Many genes work together to produce traits, and each gene has a certain power over the overall outcome. Genetics is only one facet of athleticism, and as scientists haven’t yet figured out what combination of genes would produce the ideal athlete, without putting them at risk of a harmful condition, we’re not quite at the stage where this technology would be be viable to produce a ‘super athlete’.

How could an athlete use this technology?

Considering genome-environment interactions associated with athletic performance, CRISPR-Cas9 technologies could one day be used for performance enhancement. Imagine, athletes whose genetics appear to be unfavorable for high-level performance could change and upgrade their genes, reduce their injury susceptibility and potentially get a leg up on the competition. The possibilities are endless, but vast improvements in the technology are needed before this scenario could become a reality.

The genetic basis of tendon injuries has been studied in-depth. One marker in the COL5A1 gene has been linked to tendon injury susceptibility in more than 10 large-scale studies. It’s conceivable that athletes with the ‘increased susceptibility’ variant would want to swap it out to mitigate this risk. With a technology like CRISPR-Cas9, this type of genetic alteration is on the horizon – but where does the line get drawn?

WADA.

The World Anti-Doping Agency (WADA) is already laying the groundwork for the possible future of gene doping in professional sport. Gene doping is on WADA’s prohibited method list along with the manipulation of blood and blood components.

“Most experts do not think that gene transfer is being misused by athletes yet, but we know that there is a growing level of interest in the sports world in the potential for gene doping, and that scientists working on potential genetic cures for muscle diseases or blood disorders are being approached by sports figures to inquire about the use of genes to enhance performance in sport,” said former WADA vice president prof. Arne Ljungqvist. “We need to make sure that athletes know the dangers associated with these technologies, and, for those who may choose to ignore them and cheat, that they will be caught.”

WADA has brought together scientists, ethicists and athletes for three symposia on gene doping since 2003. WADA is also spearheading the refinement of technologies to detect when an athlete has used gene editing technologies.

Therapeutic use exemption is when athletes get approval to use substances on the prohibited list for medical purposes. If gene therapy is used to prevent an athlete from being infected with HIV, are they still able to compete? What if the athlete cured their haemophilia when they were a child?

The Olympic committee stance is Athletigen’s stance – fairness in sport is different from improving quality of life for people who are suffering. To simplify: relief from suffering, not enhancement. Some cases may not be so black and white. The differentiation between therapeutic use exemption and performance enhancement will have to be handled on a case-to-case basis.

Here’s why an Athlete can’t and shouldn’t consider gene editing to enhance performance.

The desire to edit your genetic profile to enhance performance implies there is something wrong with your DNA. This perpetuates the myth that there are such things as bad genes. Truly some genetic mutations that result in disease aren’t beneficial, but if the gene doesn’t damage someone’s health, it isn’t a bad gene and it can’t inhibit optimal performance.

Athletes have won Olympic gold medals without ACTN3 (The sprint gene).

Nurturing your genetic profile through a personalized training environment is the most effective way to use genetic information in sport. Monitoring an athlete’s environment and blending that data with the athlete’s genetic predispositions can help optimize training programs, allowing for athletes to access their body’s full potential.

We only understand one per cent of the human genome. Misinterpretation of the role of genetics leads to misuse of the information. Talent identification can’t be done through genetic analysis and there is no perfect genetic-recipe for a high-performance athlete.

Education and transparency is imperative in the advancement and application of genomics in sport and medicine.

The future of gene editing.

It’s impossible to tell what the future of gene editing will look like. Nobody knows when or what the next breakthrough will be.

It seems that these technologies present the possibility to save millions of human lives. Despite the possibility for abuse, banning this research outright is not the answer. To ensure the safe development and use of these technologies, oversight, transparency and an open dialogue between scientists, policy makers and citizens is necessary.

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