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.
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| 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?
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| 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.
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| 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.
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