Genetic Testing and the Question of "Fair Play" in Athletics

           As technology has advanced in the last several decades, the role of genetic testing has become increasingly prominent in society. It has been used to determine genealogy, has come under fire for its use in the insurance world and in the realm of sports it threatens to open a venerable “Pandora’s Box” in new ways to cheat the system and gain an unfair advantage. This paper will address genetic testing from its beginning in the sporting world as a way to verify gender to current controversies raised and the questions it forces us as a society to answer, all the way to the potential role of genetic testing and, as a result, genetic doping has in the future of athletics.

            In a time before genetic testing was readily available, women in the sporting world, specifically track and field, had to, by mandate of the Internationals Association of Athletics Foundation (IAAF) and the International Olympic Committee (IOC), verify their gender by being, “…forced to parade in the nude before a panel of gynaecologists (sic) and were subjected to traumatic and degrading visual genital inspections.” (Ljundqvist, Martinez-Patino, Martinez-Vidal, Zagalaz, Diaz, Mateos) This practice was common until 1968, when the IOC implemented chromosomal testing for the first time in the Grenoble games. The reasoning was three fold: first, it was done to compromise against the outcry from the female participants against being violated, second, because the tests sometimes came back inconclusive, and lastly due to rumors of Eastern European men planning to impersonate women in the Olympic games. Unfortunately, these tests provided their own set of problems.

             Among the dozens of chromosomal disorders individuals could be affected by, one in particular, led to multiple “positive” chromosomal test for female competitors. The condition, androgen insensitivity syndrome (AIS), causes the cell receptors for testosterone to not recognize the androgen (testosterone) and as a result do not read the instructions being given to it. This would cause a male embryo to develop as a female with full feminine characteristics with the exception of XY chromosomes and undescended testes. There are several stages of AIS, the most severe of which results in a body’s complete inability to read testosterone. Those with a partial, or incomplete, version of AIS would be chromosomally male with a vagina and undescended testes, but may be able to read some of the testosterone signals in the body, but, as Ariel Levy of The New Yorker notes, “…that does not necessarily mean that they would have an athletic advantage.” Such was the case for Maria Patino.

            Patino, a Spanish champion hurdler and competitor in the World University Games in 1985, unknowingly also had AIS. At this point in time, visual inspections had been done away with and chromosomal tests were required of athletes without previous verification, which Patino had forgotten. Given her condition, the test came back registering her as a male. As a result, Patino was stripped of all previous athletic accomplishment, lost her university scholarship, and was left by her fiance.

Maria Patino - Redefining what "having a bad day" means.

         Her subsequent ban from athletic competition lasted three years and only after tireless campaigning on her part to prove that her condition did not make her male or give her an unfair advantage was it lifted. Unfortunately, by that time her athletic career was all but over. Three years later, in 1991, the International Association of Athletic Foundation (IAAF) abandoned the use of laboratory gender verification tests. The IOC did not do so until 1999. While it is estimated that at least one female athlete was excluded from the Olympic games due to AIS or a similar condition in the years between, it would be ten years before another controversy that would catch the world’s attention would arise.

            In 2009, Caster Semenya was an 18 year old up and coming track and field athlete from South Africa. She was a talented miler, but her best event was the 800m. Before she had even enrolled in college she had already won the 800 in the Commonwealth Games. She would later go on to win the African Junior Athletics Championships, dropping her personal best by over seven seconds in the effort and qualifying for the 2009 World Championships in Berlin, Germany. Even before competing in the World Championships, which she eventually won, there were whispers around the track and field world that a masculine woman was far and away surpassing her competition and dropping her times by unheard of margins. She had already broken the South African record previously held by Zola Budd. (Levy) As the whispers became roars from competitors and spectators alike, hitting its peak after she took the world championship by nearly three seconds, Semenya confirmed in a report that she had been approached and had submitted to a gender-verification test of her free will.

            A few months later the Daily Telegraph, an Australian paper, leaked that a source had confirmed that Semenya’s test had come back to reveal that she possessed neither ovaries or a uterus, but did have undescended testes that provided her body with three times the testosterone of a normal female body. They used this information to argue that she had an unfair biological advantage over her competitors.

The Daily Telegraph is also owned by Rupert Murdoch and we all know he's never told a lie.

            Though allowed to keep her title and prize money, Semenya was banned from further competition until the IAAF could come to a decision. When questioned, the IAAF stated that their, “…threshold for when a female is considered ineligible to compete as a woman is unclear.” It was nearly a year before Semenya was granted the right to continue competing. The IAAF has also never released her official medical records, citing privacy purposes as their reasoning.

            This issue raises an interesting problem for athletic governing bodies: how does one ensure “fairness” for all competitors in a game or event? With the inclusion of genetic testing and the intersex disorders it has unearthed, many of which would go unnoticed if not put to paper, the traditional gender guidelines must also be thrown out. If the IAAF cannot clearly determine what quantifies a participant as a male or female how can anyone? It is estimated that one in 20,000 people suffer from some sort of gene complication that contradicts their given and apparent gender. (Lemonick) Should these people be banned from competition for a genetic abnormality for which they have no control and, more importantly, may not even give them a distinct advantage over their competition? Even if it were to be advantageous in some fashion, the athlete is not cheating. They are simply taking advantage of the biological factors they were given at birth – no different than any other competitor.

            IAAF policy allows a medical delegate at all competitions to use his or her discretion on matters regarding gender determination. This means that a person can decide whether or not they think a person may be lying about their gender based on appearance and performance alone. Such was the case with Semenya, who first garnered attention for her remarkable drops in time - times that could just as easily have been attributed to a transition from a dirt track in one of the poorest regions in South Africa to a proper training facility with abundant resources at her university. Were it not for outstanding performances and her muscular build she would have continued competing without question from anyone. At most, it makes one question how different her career may be without this issue, at the very least it would have saved her humiliation on a global level.

            Given this, the question remains: if the lines between male and female are blurred beyond clear distinction how is fairness for all competitors involved ensured? Should competitors be divided by other factors that may affect performance, such as height or weight? Should clear cut skill levels be devised and competitors divided among them with no consideration to gender? In most cases, this would lead to an elite male level with few to no females, and elite level females racing against sub-elite males. In either situation there appears to be no real winner. What about masculinity?

Which athlete is more masculine?

How about now?

          Even as genetic testing calls into question gender results, many organizations began wondering why they should stop at gender at all. In 1987, Australia, angered over not qualifying a rower for the 1988 Olympics and looking to become a major player in international athletics, enlisted the Australian Institute of Sport to find the next crop of superstar athletes. From this, the Talent Search Program was born. The institute searched the country for high school athletes with physical attributes and skill sets that would translate to rowing, whether the athlete was currently a rower or not. They selected candidates based on physical traits such as broad shoulders, long limbs, power output and endurance, etc. (Taubes) The program proved its effectiveness when Megan Still, who had been a track athlete before being discovered by the Talent Search, won gold in women’s rowing in the 1996 Atlanta games.

            Pleased with their results, the Talent Search Program was expanded to include over half a dozen other sports. While a wide array of tests had been created to find athletes with the potential for success in a given sport, they still could not efficiently determine whether the teenager would respond positively to organized training or was reaping the benefits of simply maturing early and had, in essence, “peaked out”. Again, scientists turned to genetic testing for the answer.

            By isolating the genes that translated to an individual’s propensity to excel at a given type of athletic movement with training the institute hoped to truly uncover the genetic potential of the country’s children and ensure that each was placed in the athletic program with which they were most likely to be successful. In 2004, the Australian company Genetic Technologies marketed a test to the public for the gene ACTN3. By reading the variants on the gene, scientists could accurately determine whether a person was predisposed to be successful at speed and power movements or was more inclined to be an endurance athlete. Four short years later the same test was made available to the American population via Atlas Sports Genetics in Boulder, Colorado.

            What are the implications of this? A potential benefit of such genetic sequencing could be the discovery of previously unseen heart arrhythmias or the prevention of debilitating injuries from brain damage. (Van Langen, Hoffman, Tan, Wilde) The gene apoE3 has been linked to a predisposition towards brain injury and Alzheimer’s disease. So if testing unveiled the presence of this particular gene variation a person could be warned of the potential consequences before engaging in contact sports such as football or boxing where head trauma and concussions are a normal part of the game. Even so, can these leagues use information from these tests to ban individuals from participating due to their predisposition towards permanent damage? If the person in question understands the risk and decides to continue playing anyway what right does anyone have to tell them they cannot participate?

Fiction to future?

            There is also the obvious risk of pigeon-holing adolescents into sports due to a supposed genetic predisposition that may not even manifest. After all, these tests only show a predisposition. They do not guarantee success. In an age where overuse injuries are on the rise due to specialization of athletics too early in life, and not allowing children to experience a multitude of activities, it could be argued that choosing a single sport at an early age could do more harm than good for many kids. Genetic testing also completely cuts out the idea of  “drive” or “heart”. Maximizing one’s athletic ability is only part of the equation in many cases. Sometimes the game actually goes to the competitor who wants it more. Almost every child, at one point or another, dreams of being a star athlete. If a child is told from birth that they stand no chance of ever becoming a professional basketball player due to their genetics, the dream of doing so is destroyed. If a child is told at an early age that no matter how hard they work they will never accomplish what someone else might due to their genes what will that do to their work ethic? Essentially, it tells them that unless these tests tell them they will be the best there is no point in trying. While the obvious benefit of maximizing one’s athletic potential is positive, does it outweigh the potential negatives?

            The question of fair play again comes to the forefront when one considers the potential to unveil other genetic mutations that have nothing to do with gender. For example, truncated EPOR genes, those responsible for the creation of erythropoietin (EPO), have been shown to lead to an overproduction of red blood cells (RBCs). These individuals are then predisposed to excel at endurance sports due to their body’s increased ability to transport and utilize oxygen. Some have even shown RBC levels higher than those attainable by EPO doping, a practice all too prevalent in cycling and endurance sports. Another genetic mutation that causes Becker’s muscular dystrophy cause individuals to put on muscle mass much easier than a normal person. Arguably, this could predispose that person to gain size and strength faster than the average person. Those suffering from acromegaly, or Marfan’s syndrome, can thank an overactive pituitary for growing to heights sometimes well over seven feet due to higher than normal levels of growth hormone in the blood. This would allow them advantages in the game of basketball or volleyball that the average person would not have. In all three cases, athletes with these disorders have been found that have gone on to great success in athletics, showing that while they indeed suffer from a disorder, in many cases they are by no means disabled.

You want to tell him he has to compete in the Special Olympics due to a genetic disorder? Be my guest.

            So what do governing bodies do when genetic testing unveils that several top competitors are succeeding, at least in part, due to a genetic mutation that allows them to achieve levels of performance unreachable by “average” humans? Should they be banned for something entirely out of their control? They are not intentionally cheating in any way. Their condition is due to nothing but a genetic “roll of the dice”. At some level, are we not all the victims of our genetics? It is known that some people will never reach the elite level of athletics due to “inferior” genes. The chances of athletic parents having an athletic kid are much higher than the chances of un-athletic parents having athletic kids. The advantages these genetic anomalies give individuals are no different than the advantages alleged of Caster Semenya. As we attempt to dictate how much success is too much, it creates a very slippery slope. Do we now go back through the annals of history and test the remains of every record holding athlete to determine whether their success was due, at least in part, to a genetic condition that at the time was untraceable?

            There are currently no rules in place in any sporting arena that force every competitor to play to the level of the least talented individual. Every athlete is expected to perform to the best of their ability and at some point the weaker athletes fall by the wayside and the more talented continue on. If a competition has been conducted by the rules set forth beforehand, at the end there is a winner and a loser. In most cases the more talented person or team wins and this still falls in the realm of “fair”. Rationality dictates that this same pattern should continue on until the very best athletes are competing at the highest level.

            The one caveat to the question of fairness as it relates to genetic differences is the quickly approaching issue of genetic doping. In this case, genes have been intentionally modified to illicit a specific response. Such technology is coming about thanks in part to the Genome Project and, as a result, due to science’s search for cures to diseases such as anemia and muscular dystrophy. In these cases, genetic alteration could lead to a cure for these disorders. In the case of anemia, the intentional truncating of the EPOR gene could lead to an increased production of RBCs which, in the sick individual, would lead to near average levels. In muscular dystrophy, the activation of genes used to synthesize insulin-like growth factor (IGF) could help to ward off the muscle wasting that accompanies muscular dystrophy. In either case, the intended result is to bring those afflicted with the condition up to near “average” levels if not negating the disease entirely. However, were these gene therapies to be performed on a healthy individual and an intentional advantage could be gained through higher than normal levels of either EPO or IGF and the corresponding training response.

What’s worse is that such practices would be difficult, if not impossible, to test for. (Rupert) The process alters the body on the genetic level. The gene then expresses a targeted strand of RNA, which then produces the desired protein. As this is occurring naturally in the body, at the time there is no effective means to test for it. (Unal and Ozer Unal) Along with the threat to fair play, the side effects of such doping practices are currently unknown. An overproduction of EPO could result in permanent high blood viscosity, predisposing one to blood clots, hypertension and stroke – side effects currently seen in today’s manual EPO dopers. Hormones in the bodies of today’s EPO dopers help to bring RBC levels back down when doping is discontinued, but if the gene triggering the production cannot be turned off then the dangerous levels of blood viscosity would be irreversible. Unregulated production of IGF could lead to disproportionate power and strength gains in a particular muscle; gains the body cannot compensate for. As a result, the doper is more likely to suffer tendon tears and avulsion fractures due to the muscle’s disproportionate power to the connective tissues around it. Unfortunately, if such practices were to become available to the masses and were to be safely regulated then the question of fair play goes completely out the window.

Ladies, the line starts to the left.

            As we enter an age where science shows that gender may not be as binary as once thought, perhaps it is time to do away with gender stratification in competition. Or perhaps governing bodies need to come to a consensus on the difference between what truly constitutes an unfair advantage in sport and what is simply an individual making the best of their genetic potential. After all, is that not what is at the foundation of athletics? People working towards the goal of becoming the best they can given what they have to work with? It seems absurd that anyone could dictate that a person did “too good” of a job at using the tools they had at their disposal from birth. As Jaime Schultz puts it, “…the small percentage of those who excel at the elite levels of sport enjoy some form of advantage that the general population does not - whether that advantage is circumstantial, cultural, psychological, or biological.” It’s possible that if people spent less time making excuses involving the advantages their competitors have and focused more on what they themselves can control, the playing field may find itself more level than we once thought.

References

23andMe. 23andMe, Inc., 2007. Web. 13 Apr. 2012. <https://www.23andme.com/>.

Beiter, T., M. Zimmermann, A. Fragasso, J. Hudemann, A. M. Niess, M. Bitzer, U. M. Lauer, and P. Simon. "Direct and Long-term Detection of Gene Doping in Conventional Blood Samples." Gene Therapy 18 (2010): 225-31. EBSCOHost. Web. 15 Mar. 2012.

Bland, Jesse A. "There Will Be Blood...Testing: The Intersection of Professional Sports and the Genetic Information Nondiscrimination Act of 2008." Vanderbilt Journal of Entertainment & Technology Law 13.2 (2011): 357-83. EBSCOHost. Web. 15 Mar. 2012.

"Dennis Morrison on Genetic Testing." Telephone interview. 21 Apr. 2012.

"Firm Offers DNA Testing for Child Athletes." UPI News Track (Consumer Health) 29 Nov. 2008. EBSCOHost. Web. 15 Mar. 2012.

Gattaca. Dir. Andrew Niccol. By Andrew Niccol. Perf. Ethan Hawk and Jude Law. Columbia Pictures, 1997. DVD.

Lemonick, M. D. "Genetic Tests Under Fire." Time 24 Feb. 1992: 65. EBSCOHost, 24 Feb. 1992. Web. 15 Mar. 2012.

Levy, Ariel. "Either/Or: Sports, Sex, and the Case of Caster Semenya." The New Yorker 30 Nov. 2009. NewYorker.com. Web. 15 Mar. 2012.

Ljungqvist, Arne, Maria Jose Martinez-Patino, A. Martinez-Vidal, Luisa Zagalaz, Pino Diaz, and Covadonga Mateos. "The History and Current Policies on Gender Testing in Elite Athletes." International SportsMed Journal 7.3 (2006): 225-30. EBSCOHost. Web. 15 Mar. 2012.

Magnay, Jacquelin. "Born To Run? Families Turn to Genetic Testing." Sydney Morning Herald 10 May 2008. EBSCOHost. Web. 15 Mar. 2012.

Rupert, J. L. "Transcriptional Profiling: A Potential Anti-doping Strategy." Scandinavian Journal of Medicine & Science in Sports 19.6 (2009): 753-63. EBSCOHost. Web. 14 Mar. 2012.

Rushin, Steve. "Gene Genies." EBSCOHost, 29 Aug. 2011. Web. 15 Mar. 2012. <http://sportsillustrated.cnn.com/vault/article/magazine/MAG1189739/index.htm>.

Schultz, Jaime. "Caster Semenya and the "Question of Too": Sex Testing in Elite Women's Sport and the Issue of Advantage." Quest 63 (2011): 228-43. EBSCOHost. Web. 15 Mar. 2012.

Taubes, Gary. "Toward Molecular Talent Scouting." Scientific American Presents (2000): 26-31. EBSCOHost. Web. 15 Mar. 2012.

Trumble, Paul D. ""Knickel" and Dime Issues: An Unexplored Loophole in New York's Genetic Discrimination Statute and the Viability of Genetic Testing in the Sports Employment Context." Albany Law Review 70: 771-76. EBSCOHost. Web. 15 Mar. 2012.
Unal, Mehmet, and Durisehvar Ozer Unal. "Gene Doping in Sports." Sports Medicine 34.6 (2004): 357-62. EBSCOHost. Web. 13 Mar. 2012.

Van Langen, M., N. Hofman, H. L. Tan, and A. A M Wilde. "Family and Population Strategies for Screening and Counselling of Inherited Cardiac Arrhythmias." Annals of Medicine 36 (2004): 116-24. EBSCOHost. Web. 15 Mar. 2012.