Is There a Role for Genetic Testing in Sports?


The last 15 years have witnessed a boom of genetic tests for sport performance. They relate to both the ability to predict athletes at higher risks for specific injuries, and to the ability to predict athletic talent. They raise scientific and ethical issues related to confidentiality, conflict of interest of the sports physician, informed consent in children and the possible infringement on the athlete's autonomy. We distinguish here genetic tests for injury prevention in four cases: (1) concussion‐related traumatic brain injuries; (2) sudden‐cardiac arrest‐related conditions; (3) overexertion complications related to the sickle‐cell anaemia trait; (4) Achilles tendinopathies and anterior crucial ligament ruptures. In addition, we discuss direct‐to‐consumer genetic tests for athletic performance prediction in children. We argue that although the former kind of genetic tests has utility, within the bounds of specified limitations, the latter is both ethically and scientifically problematic.

Key Concepts:

  • Genetic tests, whether administered by a doctor or as a direct‐to‐consumer product, cannot accurately predict an individual's predisposition to a greater risk of concussion, and should not be used in deciding whether or not athletes should return to play after a traumatic brain injury.

  • Genetic testing can play an important role in evaluating an athlete's risk of sudden cardiac‐arrest‐related conditions and could be included in rigorous preparticipatory screenings, but they should not be used as the basis for mandatory exclusion of individuals from participation in professional sports as that would constitute an infringement of their autonomy.

  • Genetic screening for sickle cell anaemia trait is able to identify individuals at higher risk of developing possibly fatal overexertion complications on the field of play. The mandatory genetic screening for the sickle cell trait as that put in place by NCAA should make sure not to discriminate against carriers of the trait and, in particular, not to target African‐Americans where the prevalence of the trait is higher. The NCAA should consider extending the screening to student athletes of all Divisions.

  • Genetic tests for an athlete's predisposition to Achilles tendinopathies and anterior cruciate ligament (ACL) injuries can and should be incorporated in a multifactorial risk model for the prediction of individuals at higher risk of this kind of injuries and for personalised training and prevention, but it should be noted that this kind of tests are not diagnostic in nature and that other nongenetic factors should always be taken into account in the prediction of individuals at a higher risk of developing injuries of Achilles tendon and ACL.

  • DTC genetic tests claiming to be able to predict athletic performance or athletic potential make overstated marketing claims and should not be taken seriously. In addition, they raise specific problems of informed consent in children, and of confidentiality and informed consent when used in the context of professional sports medicine.

Keywords: DTC‐genetic tests; sudden cardiac arrest; talent; traumatic brain injury; Achilles tendinopathy; anterior crucial ligament rupture; concussion; sickle‐cell anaemia; children; autonomy; return to play


American Haematology Association (2012) ‘ASH Policy Opposes Mandatory Sickle Cell Trait Screening for Athletic Participation, Recommends Universal Training Interventions & Additional Research’. and ‘Statement on Screening for Sickle Cell Trait and Athletic Participation’.‐statements/7704.aspx (accessed 30 January 2013).

Anderson L, Exeter D and Bowyer L (2011) Sudden cardiac death: mandatory exclusion of athletes at risk is a step too far. British Journal of Sports Medicine 46(5): 331–334.

Associated Press (2009) Family settles suit with Rice. ESPN College Football, 28 June 2009. (accessed 30 January 2013).

Berman Y and North KN (2010) A gene for speed: the emerging role of α‐actinin‐3 in muscle metabolism. Physiology 25(4): 250–259. doi:10.1152/physiol.00008.2010.

Bonham VL, Dover GJ and Brody LC (2010) Screening student athletes for sickle cell trait–a social and clinical experiment. New England Journal of Medicine 363(11): 997–999.

Bos JM, Towbin JA and Ackerman MJ (2009) Diagnostic, prognostic, and therapeutic implications of genetic testing for hypertrophic cardiomyopathy. Journal of the American College of Cardiology 54(3): 201–211.

Brooks MA and Tarini BA (2011) Genetic testing and youth sport. Journal of the American Medical Association 305(10): 1033–1034.

Caufield T (2011) Predictive or preposterous? The marketing of DTC genetic testing. Journal of Science Communication 10(3): 1–6. (accessed 30 January 2013).

Collins M and Raleigh M (2009) Genetic risk factors for musculosketal soft tissue injuries. Medicine and Sport Science 54: 136–149. doi: 10.1159/000235701.

European Society of Human Genetics (2010) Statement of the ESHG on direct‐to‐consumer genetic testing for health related purposes. European Journal of Human Genetics 18: 1271–1273.

Eynon N, Ruiz JR, Oliveira R et al. (2011) Genes and elite athletes: a roadmap for future research. Journal of Physiology 598(13): 3063–3070.

Gandy S and DeKosky ST (2012) APOE ɛ4 status and traumatic brain injury on the gridiron or the battlefield. Science Translational Medicine 4(134): 134ed4.‐3d47‐4a75‐8342‐139c141a080c (accessed 18 January 2013).

Goldberg DS (2009) Concussions, professional sports, and conflicts of interest: why the national football league's current policies are bad for its (players') health. HEC Forum 20(4): 337–355. DOI 10.1007/s10730‐008‐9079‐0.

Halkin A, Steinvil A, Rosso R et al. (2012) Preventing sudden death of athletes with electrocardiographic screening: what is the absolute benefit and how much will it cost? Journal of the American College of Cardiology 60(22): 2271–2276. doi: 10.1016/j.jacc.2012.09.003.

Hecht A (2002) Legal and ethical aspects of sports‐related concussions: the Merril Hoge story. Seton Hall Journal of Sport Law 12: 17–64.

McKee AC, Cantu RC, Nowinski CJ et al. (2009) Chronic traumatic encephalopathy in athletes: progressive tauopathy after repetitive head injury. Journal of Neuropathology and Experimental Neurology 68(7): 709–735.

McNamee MJ, Mueller A, van Hilvoorde I et al. (2009) Genetic testing and sports medicine ethics. Sports Medicine 39(5): 339–344.

Myerson M, Sanchez‐Ross M and Sherrid MV (2012) Preparticipation athletic screening for genetic heart disease. Progress in Cardiovascular Diseases 54(6): 543–552.

O'Connor A (2012) Should young athletes be screened for heart risk? New York Times.‐risk‐in‐athletes‐is‐gaining‐attention/ (accessed 18 January 2013).

Park M (2010) College football player who committed suicide had brain injury, CNN News. (accessed 18 January 2013).

Posthumus M, Collins M, Cook J et al. (2010) Components of the transforming growth factor‐β family and the pathogenesis of human Achilles tendon pathology – a genetic association study. Rheumatology 49: 2090–2097.

Rees D, Williams TN and Gladwin MT (2010) Sickle‐cell disease. Lancet 376: 2018–2031.

Roth SM (2012) Critical overview of applications of genetic testing in sport talent identification. Recent Patents on DNA & Gene Sequences 6(3): 247–255.

Rudnik‐Schoeneborn S (2012) Genetic tests in sports medicine – many studies, little impact. Genomics, Society and Policy 8(1): 13–19.

Saulle M and Greenwald BD (2012) Chronic traumatic encephalopathy: a review. Rehabilitation Research and Practice 2012(2012): 9. doi:10.1155/2012/816069.

Savulescu J (2005) Compulsory genetic testing for APOE epsilon 4 and boxing. In: Tamburrini CM and Torbjorn T (eds) Genetic Technology And Sport: Ethical Questions, pp. 136–146. New York, NY: Routledge University Press.

Scott A and Kham K (2010) Genetic associations with Achilles tendinopathy. Is it time to incorporate gene testing into clinical care? Rheumatology 49(11): 2005–2006.

September AV, Posthumus M and Collins M (2012) Application of genomics in the prevention, treatment and management of achilles tendinopathy and anterior cruciate ligament ruptures. Recent Patents on DNA & Gene Sequences 6(3): 216–223.

Stein R (2010) Sickle cell testing of athletes stirs discrimination fears, Washington Post.‐dyn/content/article/2010/09/19/AR2010091904417.html (accessed 30 January 2013).

The New York Times, Sports (2012) Head Injuries in Football. New York Times. 10 December 2012. (accessed 18 January 2013).

Thomas K (2010) NCAA Council approves testing for sickle‐cell trait, New York Times.

Tsaras G, Owusu‐Ansah A, Boateng FO and Amoateng‐Adjepong Y (2009) Complications associated with sickle cell trait: a brief narrative review. American Journal of Medicine 122(6): 507–512.

Vinocur L (2011) Sudden cardiac arrest kills too many young athletes. Huffington Post‐vinocur‐md/sudden‐cardiac‐death‐_b_821483.html (accessed 18 January 2013).

World Health Organization (2006) Report by the Secretariat on Sickle Cell Anemia A59/9Provisional agenda item 11.4 24 April 2006.…/A59_9‐en.pdf (accessed 30 January 2013).

Yang N, MacArthur DG, Gulbin JP et al. (2003) ACTN3 genotype is associated with human elite athletic performance. American Journal of Human Genetics 73: 627–631.

Further Reading

Camporesi S and McNamee MJ (2012) Gene transfer for pain: a tool to cope with the intractable, or an unethical endurance‐enhancing technology? Genomics, Society & Policy 8(1): 20–31.

Drezner JA, Levine BD and Vetter VL (2013) Reframing the debate: screening athletes to prevent sudden cardiac death. Heart Rhythm 10(3): 454–455. doi: 10.1016/j.hrthm.2012.12.037.

Macur J (2008) Born to run? little ones get test for sports gene. New York Times. (accessed 18 January 2013).

Malinowski E (2011) Sudden cardiac arrest strikes collegiate athletes at alarming ratewired.‐arrest‐ncaa‐athletes/ (accessed 18 January 2013).

Miah A (2012) Genetics & sport: bioethical concerns. Recent Patents on DNA & Gene Sequences 6: 197–202.

Savulescu J and Foddy B (2005) Comment: genetic test available for sports performance. British Journal of Sports Medicine 39: 472. doi:10.1136/bjsm.2005.017954.

Stein R (2011) Genetic testing for sports genes courts controversy. The Washington Post.‐testing‐for‐sports‐genes‐courts‐controversy/2011/05/09/AFkTuV6G_story.html (accessed 18 January 2013).

Tucker R and Collins M (2012) What makes champions? A review of the relative contribution of genes and training to sporting success. British Journal of Sports Medicine 46: 555–561. doi:10.1136/bjsports‐2011‐090548.

Contact Editor close
Submit a note to the editor about this article by filling in the form below.

* Required Field

How to Cite close
Camporesi, Silvia, and McNamee, Michael J(May 2013) Is There a Role for Genetic Testing in Sports?. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0024203]