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Halea Griffin

12/1/17

PHI317

Idziak

Interdisciplinary Paper

Through the application of principalism, testing elementary school aged children for their

expression of the ACTN3 genotype before allowing participation in sports is not ethical. This is

because it violates the ideas of Autonomy, Beneficence, Nonmaleficence, and Distributive

Justice. There is increasing evidence that there is a genetic influence and evolutionary tradeoff

between performance traits for speed and for endurance. (Garland, 1990) cited in (Ruiz et al.,

2013) The genotype encodes a-actinin-3, which is a sarcomeric protein that is expressed in fast

twitch muscular skeletal fibers and produces powerful muscle contractions. These muscle fibers

then translate into the actions needed for a particular sport. (Ruiz et al., 2013) The particular

genotype that is being examined is the R577X, rs 1815739 polymorphism, which looks at the

difference between an RR and an XX genotype in determining whether someone’s genotype is

associated with being a power athlete or an endurance athlete, respectively. (Ruiz et al., 2013) In

(MacArthur, 2007/2008), cited in (Ruiz et al.), mice with the XX genotype, which replaces

arginine residue at amino-acid 577, results in an ACTN3 deficiency, which gives them higher

aerobic activity ability, fatigue resistance, and lower muscular strength.


In many of the studies on the subject, the researchers have used PCR in examining the

genotypes associated with ACTN3. These tests would be difficult and costly to do on one’s own,

especially for an ordinary person without a scientific background. However, direct to consumer

tests (DTC) are becoming more and more common as well as affordable. These costs vary from

$80 to $200 (Camporesi, 2003). The field of sports genomics is still fairly new, and it focuses on

the organization and function of an “elite human genome”. Because it is so new and still in a

discovery phase of sorts, replication studies are needed before the practice of genome mapping

can really be applied in sports. (Ahmetov and Fedotovskaya, 2012) Some of the future studies

that have been planned include whole-genome sequencing, epigenetic transcriptomic and

proteomic profiling, and these sorts of studies would allow for a better understanding of what

genes make up the molecular physiology of elite athletes.(Ahmetov and Fedotovskaya, 2012)

Several studies have found a loose genetic correlation for elite athlete status. 79 genetic

markers in particular have been linked to elite athlete status, with 59 of these being through

endurance markers, and 20 through power and strength related markers. (Ahmetov and

Fedotovskaya, 2012). These studies have also found that a working copy of the ACTN3 gene is

almost always found in Olympic level athletes that participate in power sports, and the finding is

that someone without this protein would not be able to reach a peak performance in power

sports. (23andMe - Variations: Speed Gene: Fact or Fiction?) Other studies, including (Ruiz et

al., 2013), have examined the ACTN3 genotypes of swimmers, and have found no association

between a heterozygous genotype for ACTN3 (RX) and elite swimmer status. However, there is

a higher association of the R allele in elite female swimmers compared to the general population,
but there were no differences observed in men. There also seems to be a genetic correlation

between the ability of muscles to produce a force at high velocity and a high power and sprint

performance.(Eynon et al., 2013) However, this is not just simply from the ACTN3 gene, as elite

sports performance seems to be a polygenic trait, with minor variants that create a unique athletic

phenotype.(Eynon et al., 2013) Genes are not the only major influencer of success at the elite

level, but coupled with training and diet, are what enable success at the highest competition

level. (Eynon et al.)

Which leads into the factors that influence the ACTN3 gene and how much of an impact

it has on athletic training. In a study examining the effects of training on people with various

phenotypes of the ACTN3 gene, it was found that individuals differed in responding to similar

exercise training because of the influence of environmental and genetic factors.(Yan, et all, year

not noted, ACTN3 R557X genotype affects training-induced changes in mitochondrial

respiration in humans, found via worldcat) This was 4 weeks of HIIT training, and afterward,

XX participants showed higher increases in lactate threshold, while RR participants had higher

improvements in 20km time trials. (Yan, et all, year not noted) Unfortunately there was no

statistical significance in the data because of the small sample size, but there was an indication of

a possibility that the genetic variances provided by the ACTN3 gene would improve

mitochondrial function and lactate threshold, which in turn would improve athletic performance.

(Yan, et. all, unknown year)

Testing for the ACTN3 gene at the elementary school level, however, would not be

ethical through the application of Principlism. Thanks to the easy affordability of Direct to
Consumer genetic tests, many parents have started to seek earlier and earlier advantages, which,

if accurate, would allow them to push their children into turning into professional athletes at

younger and younger ages. (Camporesi, 2003) Thanks to the pressure from society to ensure that

their children are the best at whatever they do (sports, music, the like), parents may feel like they

do not have a choice in determining whether or not to test for the ACTN3 phenotype. Then these

choices that parents make early on then create an “opportunity cost” for children and close the

door to other types of upbringings, so it would make sense for parents to want the best options

for their children. (Camporesi, 2003)

If we examine Autonomy further, these tests would not be ethical because the elementary

school age children could not give the proper consent for these tests to be done. According to

Webborn et al.), children’s consent to a particular genetic test should be postponed, so long as

the postponement is not detrimental to the child’s health, or would not impact the management of

a child’s health. Looking at a couple of genes that don’t seem to have a profound impact on a

child’s health from such a young age, when they are unable to consent fully to the implications

of this test, would violate the principal of Autonomy.

If we look at Beneficence it becomes slightly more ethical to test for the ACTN3 gene at

an early age. As mentioned previously, the phenotype can determine whether or not someone

would be better suited to power sports, or if they should stick to distance sports, or if it really

doesn’t matter (if they’re heterozygous for the gene). There are also genetic factors associated

with injury, including ankle sprains. RR genotypes have been found to have lower numbers of

acute ankle sprains, however, heavier groups (that may favor power sports even without knowing
their phenotype) had much more higher instances of acute ankle sprains. (Shang et al., 2015) By

knowing the genetic risks of injury, steps can be taken to prevent it, such as extra rehabilitation

in the athletic training room to strengthen ankles or other areas of the body that are prone to

injury.

Further, if we examine Nonmaleficence, it becomes even less ethical to test for the

ACTN3 gene at an early age. This is because parents would put too much pressure on their

children to specialize in a particular sport at an early age in order to maximize the chances that

the child will become a professional athlete in the sport. This is by using direct-to-consumer tests

that will tell them whether their child is suited for power sports or not based upon their

phenotype. By pushing at such an early age, nonstop, it could create burnout for the child, and

resentment towards the parents. Since all of their time would be taken in training for a particular

sport, other options may not be available to the child for things such as music or a focus in

school. So then in the future, if they don’t become a professional athlete, they may feel that they

have no place in the world because the one thing that they’ve focused on didn’t pan out.

There could also be false negatives from these direct-to-consumer tests, which would

indicate to parents that the child doesn’t have the genotype needed for elite athletics.

(Camporesi, 2003) Armed with this false knowledge, parents would then act upon the results of

the tests by discouraging children from sports that they don’t have a genetic predisposition for,

even if the children would be good at these sports (or would want to play them). Further, if the

tests were required by the school system itself, and were found to not have this particular gene,

students could lose out on playing sports and enriching their lives. At one point, there were
thirty-nine companies that provided direct to consumer testing for sports performance. However,

54% of these companies could not identify specific DNA sequences that were tested for.

(Webborn et al.)

Even if someone does not reach a professional level in sports, athletics still have a

tremendous impact on someone’s mental, physical, and emotional wellbeing. With childhood

obesity rates at an all-time high, the focus should be on enabling as many people as possible to

play sports and begin healthy exercise regiments at an early age to curb some of the problems

that have been seen with the high rates of obesity.

Finally, in examining Distributive Justice, we can definitively see that the testing for the

ACTN3 genotype in elementary school aged children is not ethical. The costs associated with

DTC tests are still a heavy burden on a family that may already be struggling, and would mean

that not everybody would have equal access to the tests that would enable them to have a leg up

in training and gaining access to athletic scholarships. These families would already have a leg

up in the sense that they would have more monetary access to training and nutritional food that

would boost one’s athletic performance, so by genetically testing their children at an earlier age

to be able to see what sports they would be best at, it closes the door even more to children who

may not have the same access to this help, and drives the gap between haves and have nots even

more than it does to begin with.

Studies have found that the only major differences between someone genetically inclined

towards a sport and someone not genetically inclined are ones that manifest themselves at the

Olympic top-tier level. That means that it would not be ethically sound to limit participation in
sports at such an early age. Even if there is a substantial difference at the elite level, it’s been

found that this genetic difference is not the end all, be all, when it comes to athletic performance.

In fact, a Spanish scientist found a world champion long jumper who had two non-working

copies of the ACTN3 gene. (23andMe - Variations: Speed Gene: Fact or Fiction?) However,

this is the first and only Olympic power athlete who has so far been found to lack the ACTN3

gene.

Overall, the field of sports genomics is still in its infancy. This means that we don’t know

the full extent of how genetics impact sports performance, as opposed to training and nutrition.

Further, since the field is still so new, the chances of false negatives are still fairly high. If these

false negatives occur, someone who would be talented at these sports may then miss out on the

opportunities to participate.

Even if it weren’t false negatives that made this test unethical, it would be the opportunity

costs for the children that would stem from this testing would make it wholly unethical. If

schools were to require it, the costs associated would disproportionately impact lower income

schools that would already struggle with general costs to begin with, and if schools required the

testing without paying for it, struggling families would be at an even higher disadvantage, not

allowing their children to participate in sports.

Without them being required, widespread testing for the ACTN3 genotype would be

unethical because the general societal implication would be that the tests should still be done

because it would give a leg up to kids. In a world of striving for perfection (on a genetic basis as
well as on a regular basis), kids and adults are left without a choice but to do these tests. This

means that they don’t have full autonomy when deciding whether or not to test for this genotype.

However, this genotype is not the end all, be all, of sports performance. It’s been found

that people the XX genotype (the non-working form of ACTN3) are better in endurance sports,

while those with the RR genotype (two working copies of the ACTN3 gene) are better in power

sports. It doesn’t mean that the kids won’t be athletically gifted, but it’s not clear whether that is

the case. Parents may panic when seeing that their child does not have a working copy of this

genotype, and just assume that their child won’t be good at sports. Studies have shown that genes

have a low impact on sports performance when compared to environmental factors including

training and nutrition, and may not even really have an impact, if you look at the case of the

Spanish long jumper with two non-working copies of the ACTN3 gene.

Thanks to the field being so new with so many untested waters, it’s worthwhile to wait

before deciding that widespread testing of kids for the ACTN3 gene is ethically permissible. We

don’t know the full extent of what the gene controls, if it controls anything of substance. Further,

the issues with cost to families who may already be struggling is insurmountable and would be

inexcusable. Testing for this gene in children who cannot consent fully would be unethical,

because the tests would not have a substantial positive impact on their health and wellbeing, and

should be postponed until an age where they can fully consent to the tests.
Works Cited

23andMe - Variations: Speed Gene: Fact or Fiction?

https://www.23andme.com/gen101/variation/speed/. Accessed 10 Nov. 2017.

Ahmetov, Ildus I., and Olga N. Fedotovskaya. “Sports Genomics: Current State of Knowledge

and Future Directions.” Cellular and Molecular Exercise Physiology, vol. 1, no. 1, Apr.

2012, p. e1. www.cellularandmolecularexercisephysiology.com,

doi:10.7457/cmep.v1i1.e1.

Camporesi, Silvia. “Bend It like Beckham! The Ethics of Genetically Testing Children for

Athletic Potential.” Sport, Ethics and Philosophy, vol. 7, no. 2, 2013, pp. 175–85.

PubMed Central, doi:10.1080/17511321.2013.780183.

Eynon, Nir, et al. “Genes for Elite Power and Sprint Performance: ACTN3 Leads the Way.”

Sports Medicine, vol. 43, no. 9, Sept. 2013, pp. 803–17.

Proc. Au.P.S. 45:78P. http://aups.org.au/Proceedings/45/78P/. Accessed 10 Nov. 2017.

Ruiz, J. R., et al. “ACTN3 Genotype in Spanish Elite Swimmers: No ‘Heterozygous

Advantage.’” Scandinavian Journal of Medicine & Science in Sports, vol. 23, no. 3, June

2013, pp. e162–67.

Shang, Xuya, et al. “The Association between the ACTN3 R577X Polymorphism and

Noncontact Acute Ankle Sprains.” Journal of Sports Sciences, vol. 33, no. 17, Sept.

2015, pp. 1775–79.


Webborn, Nick, et al. “Direct-to-Consumer Genetic Testing for Predicting Sports Performance

and Talent Identification: Consensus Statement.” British Journal of Sports Medicine, vol.

49, no. 23, Dec. 2015, pp. 1486–91. PubMed, doi:10.1136/bjsports-2015-095343.