genetic testing and sports medicine ethics

Genetic Testing and SportsMedicine EthicsMichael John McNamee,1 Arno Muller,2 Ivo van Hilvoorde3 and Søren Holm4

1 Department of Philosophy, History and Law, School of Health Science, Swansea University, Swansea, UK

2 Maastricht University, Department of Health, Ethics and Society, Maastricht, the Netherlands

3 Research Institute MOVE, Faculty of Human Movement Sciences, VU University Amsterdam,

Amsterdam, the Netherlands

4 Cardiff Law School, Cardiff University Law Building, Museum Avenue, Cardiff, UK

Abstract Sports medicine ethics is neither a well established branch of sports med-icine nor of medical ethics. It is therefore important to raise to more generalawareness some of the significant ethical implications of sports medicinepractices. The field of genetics in sports is likewise in its infancy and raisessignificant ethical concerns. It is not yet clear how genetics will alter ourunderstanding of human potential and performance in sports. While anumber of professional medical bodies accept genetic interventions of atherapeutic nature, we argue that the use of genetic technologies to predictsports potential may well breach both the European bioethics convention andNorth American anti-discrimination legislation, which are designed to sup-port important ethical ideals and the ongoing commitment of the physician tothe welfare of their patient. We highlight further ethical problems associatedwith confidentiality and consent that may arise in genetic testing as opposedtomore conventional methods of testing in sports medicine.We conclude thatgenetic testing in sport that is not strictly limited to the protection of theathlete against harm, should be viewed in a very sceptical light by sportsmedicine professionals.

With the particular exception of doping, theemerging field of sports medicine ethics hasattracted relatively little ethical discussion com-pared with more established branches of medicine.Recently, commercial,[1,2] professional and scientificdiscussions of genetics have raised the possibilityof genetic testing for sports performance predic-tion[3-7] in addition to preventative and therapeu-tic purposes.[6-8] We note the powerful case thatcan be made for genetic testing regarding theidentification of predisposition to hypertrophiccardiomyopathy.[9-13] However, in contrast, we

raise key ethical issues that reveal a conflict be-tween common employment practice and profes-sional sport from within the more establishedfields of medical ethics and legislation. Genetictesting for predictive purposes such as talentidentification or performance profiling is poten-tially in breach of the Council of Europe BioethicsConvention[14] and the Genetic InformationNon-Discrimination Act in the US.[15] Giventhe economic and power asymmetry betweenprofessional sports franchises and individualprofessional athletes, we argue that the voluntary

CURRENT OPINIONSports Med 2009; 39 (5): 339-344

0112-1642/09/0005-0339/$49.95/0

ª 2009 Adis Data Information BV. All rights reserved.

consenting to genetic testing may be underminedand that duress or even coercion may be usedto secure the data that can be acquired throughgenetic testing. Moreover, even if acceptance issecured under voluntary conditions it is necessaryto consider the degree of comprehension and thusthe ‘informedness’ of athletes of the consent. Fi-nally, if genetic testing is to develop in sportsmedicine, we highlight the need for acceptableand available systems for genetic counselling be-fore and after testing.[7] We conclude that genetictesting in sport, which is not strictly limited to theprotection of the athletes against harm, should beviewed in a very sceptical light by sports medicineprofessionals.

While sports ethics as a research field is in itsinfancy, sports medicine ethics can only be clas-sified as neonatal. Very few articles exist thatattempt to lay down the boundaries of what is apotentially important research field.[16,17] Theconflicts of interests between team doctors inrelation to their employing sports franchisesand other governing bodies such as the NationalBasketball Association or the National FootballLeague and their long-term commitment to thehealth and well-being of their athlete patient arerelatively well known[18] but rarely scrutinizedfrom an ethical point of view. The advent of ge-netic medicine in general and genetic testing insports medicine brings new ethical issues to lightthat merit critical ethical scrutiny.

It is not yet clear precisely how genetics willalter our understanding of athletic potential andperformance.[19,20] Some of the claims made bysports ethicists and scientists regarding the poten-tial for human enhancement seem to blur thelines between fact and science fiction.[3,21] Inaddition to these problems, a fairly recent articleneglects even to mention professional athleticsand sports medicine in its review of ethical, legaland social implications of genetic medicine.[22]

Whether or not we accept the enhancementscenarios, some research has established someimportant genetic precursors to athletic develop-ment especially regarding muscular contractionand growth. However, little comment has beenmade concerning the preventive application ofgenetic testing in sports as well as of the ethical

implications for sports medicine. This articleraises a number of interrelated ethical issues thataffect sports medicine in relation to professionalathletes.

1. Genetic Testing for Prevention or(Sports) Performance?

Recently both popular and scientific discus-sion has raised the possibility of genetic testingfor sports performance prediction. The followingis indicative: ‘‘Many of the variables that deter-mine athletic performance are partially inherited(Spurway, 2007) and therefore one can foreseethe use of genetic tests to predict performance.’’[3]

Beyond biomedical science, some bioethicistshave also made similar claims as to its potentialuses,[4-7] while others, ourselves included, aremore sceptical.[8] The potential of sports geneticsis often based on the claim that a single gene(ACTN3) is crucially related to sports perfor-mance potential.[23] This is based on its expres-sion in type II (fast twitch) muscle fibres, whichare of importance to sports where speed isintegral.

There are even commercially available testkits[1,2] for the most eager of sports parents oryouth sports coaches with talent identification(and its economic and social benefits) in mind.The discovery of ACTN3 apparently ‘‘marks thebeginning of a new era.’’[3] What is to be made ofsuch a grand claim? The first is that perhaps theattraction of citing such an important geneticcontributor is so great that some are prepared toleap precipitously to claim that without ACTN3there is no quick muscle contraction. However, arecent single case report of a Spanish double-Olympic, world-class long jumper has shown thathis achievements were notable because of a defi-cient ACTN3 gene.[24] We would be mistaken ifwe tried to reduce complex traits such as musclepower and speed down to a single gene.[25]

Therefore, a precautionary approach might bewiser until the evidence is supported more widelyabout the function of ACTN3. However, a recentanalysis of commercial genetic profiling forhealth risks and interventions suggests:

340 McNamee et al.

ª 2009 Adis Data Information BV. All rights reserved. Sports Med 2009; 39 (5)

‘‘Although genomic profiling may have poten-tial to enhance the effectiveness and efficiencyof preventive interventions, to date the scientificevidence for most associations between geneticvariants and disease risk is insufficient tosupport useful applications.’’[26]

Given that genomic medicine and technologyare advancing so rapidly, it is worth consideringtheir potential ethical impact in advance of actualmedical applications in athletics.[6] Although inseveral cases healthcare practitioners are power-less to prevent or treat certain conditions after therealization of a (genotype) positive test result,genetic testing for athletes might enable physi-cians to prevent individuals who are not aware oftheir health condition from dying a death trig-gered by sports, as in the case of hypertrophiccardiomyopathy.[9-13]

Currently, the health-related use of genetictesting in sport (i.e. in preparticipation examina-tions) is not a standard procedure. It is recom-mended by some cardiologists in borderline cases(ambiguous ECG/echo, borderline wall thick-ness). Pigozzi and Rizzo state that ‘‘if certaindiagnosis is not possible but the suspect of diseaseis high, the most definitive evidence for the pre-sence of hypertrophic cardiomyopathy (HCM)comes from DNA analysis.’’[27] If, however, afamily member is diagnosed with hypertrophiccardiomyopathy, then, despite lack of symptoms,a genetic screening of the entire family should beconsidered.[28] On the other hand, genetic testingis mandatory when definitive diagnosis for geno-type-related risk stratification and therapy is re-quired, as can be the case in athletes with long QTsyndrome (LQTS).[11] Regarding LQTS, theHeart Rhythm UK Familial Sudden Death Syn-dromes Statement Development Group soundscaution by stating that ‘‘genetic testing is notrecommended for diagnosis of uncertain or‘borderline’ congenital LQTS outside the settingof expert clinical and detailed family assess-ment.’’[29] Not all diseases are monocausal, whichobviously reduces the predictive quality of suchtests, not to mention the high costs as a con-sequence of testing a whole range of genes thatare suspected to be linked to a certain disease.These obstacles (among others) lead to the con-

clusion that genetic tests are probably not be-coming a standard in preparticipation screenings,at least not in the near future.

2. Genetic Testing in Sports and theLegal Regulation of Genetic Testing inEmployment

Suppose that athletic predestination is reliablypredictable by new genetic sports medicine atsome point in the near future. What will followfrom this? What is scientifically possible andwhat is ethically permissible do not always gohand in hand. One very significant barrier to thisuse of genetics already exists in Europe in theform of the Council of Europe Bioethics Con-vention where Article 12 regarding predictivegenetic tests states:

‘‘Tests which are predictive of genetic diseasesor which serve either to identify the subject as acarrier of a gene responsible for a disease or todetect a genetic predisposition or susceptibilityto a disease may be performed only for healthpurposes or for scientific research linked tohealth purposes, and subject to appropriategenetic counselling.’’[14]

Here, the idea of someone undergoing genetictesting in order to establish some kind of perfor-mance profile would itself go against the stricttherapeutic or preventative rationale of theCouncil of Europe Convention. Also, in theUS theGenetic Information Non-Discrimination Act of2008 Section 202a explicitly prohibits the use ofgenetic information in employment decisions.[15]

There are further obstacles to genetic testingfor sports performance arising from this Con-vention that raise ethical issues to be addressedbeyond European confines, which we addressbelow. For the moment, it is important to noteone important difference between genetic testingin public health and in professional sports. How-ever, as noted above, where healthcare practi-tioners are incapable of therapeutic interventions,the testing is still not futile given the possibilityof identifying susceptibility to HCM.[9-13] Equal-ly, this may cause problems since genetic datarevealed about a given athlete may be disclosedto public bodies such as the World Anti-Doping

Genetic Testing and Sports Medicine Ethics 341


Agency and in so doing the privacy of data ofrelatives will be denied.[6,7] Nevertheless, just be-cause it may be impossible to cure a patient of agiven condition, it does not follow that genetictesting is redundant. However ‘‘DNA-based di-agnostic tests that can definitively distinguishgenetic heart diseases from athlete’s heart’’[13]

could genuinely save lives. Moreover, genetictesting for APOE4 in addition to traditionalscreening has been used voluntarily in Australiawith boxers who are vulnerable to early onset ofAlzheimer’s disease if they have the gene.[4,30,31]

Our point is not against genetic testing in sportsper se, but merely against the questionable va-lidity of genetic prediction of sports performanceand the expansion of its role beyond traditionalpreventative and therapeutic aims. While it isclear that the boundary between the traditionalcurative goals of medicine and the more novelenhancement aims of sports medicine is notabsolute, the distinction still remains a useful one.

3. Problems of Confidentiality andConsent in Professional Sports Medicine

In highly paid professional sports, what arethe possible scenarios in offering a test for asports-related risk factor? Can the asymmetry ofpower between franchise and player be madeworse by genetic knowledge? If consent proce-dures are properly followed, the ability to vo-lunteer might still be in question: how does thesports physician present the case for and against,under what circumstances and with what pre-conditions? Even if this process was followedin an ethically acceptable manner, what stepsshould follow from different test results. Testingitself does not guarantee objective and unequi-vocal prognoses: nor does the genetic counselling,which would need to follow.[7,32] Human inter-pretation and valuation of risk factors are stillnecessary. How are the test results presented, bywhom and under what conditions? What does acertain risk mean in one context, compared withanother? All these issues will require seriouspublic professional debate if genetic testing is togain a foothold in sports medicine.

Moreover, while respect for patient autonomyis often regarded as the crucible of medical eth-ics,[33] concerns arise from the very nature ofgenetic data presented under the heading ‘geneticexceptionalism’.[34] For example, Yesley[35] dis-putes the claims to the uniqueness of genetic dataas opposed to other forms of traditional screen-ing and testing. Given, however, the complexityof issues surrounding genetic data, what confi-dence is justified regarding professional athletes’capacity to grasp fully the decision to be geneti-cally tested? A further problem arises regardingconfidentiality: with whom will the genetic databe shared? Will existing pressures on team doc-tors to divulge athlete/patient information[16] beexacerbated? Often the physiotherapist or teamdoctor find themselves caught in a conflict of in-terest. They serve both the athlete/patient and thefranchise/client who pay their wages. The datathey have regarding the health and performancestatus are highly sensitive but in great demandfrom the employing franchise, the coach andpotential commercial suitors.

Genetic testing in employment for anythingother than health risk related to the specific job isgenerally frowned upon. Why should profes-sional sports differ? Article 12 of the EuropeanConvention prohibits the use of predictive testsfor non-health-related reasons, even with theassent of the patient. Predictive genetic testing aspart of pre-employment medical examinations isforbidden whenever it does not serve the health-related interests of the individual. This meansthat in particular circumstances, when the work-ing environment could have prejudicial con-sequences on the health of an individual becauseof a genetic predisposition, predictive genetictesting may be offered without prejudice with theaim of improving working conditions. Whichgenetic anomalies are deleterious to given athletesin specific sports? Should sports employers beallowed to hire and fire based on unexpressedgenetic abnormalities? How should the athlete’sright not to know other deleterious conditionsbe respected? There is a justifiable requirementto carry out performance tests to judge, forexample, the effort of the athlete, or their ad-herence and commitment to a specified training

342 McNamee et al.


regimen in order to decide whether to offer orextend a professional contract. This does not,however, justify a ‘fishing expedition’ of poten-tially wide-ranging personal genetic data.

4. Conclusions

We have attempted to raise critical questionsregarding the potential of genetic testing in sportsmedicine without rejecting it tout court. Werecognize that if genetic testing is carried out forenhancement purposes it may have the unin-tended, but desirable, consequence of highlightingpotentially harmful diseases or conditions thatmay be exacerbated by high-level athletic activity.

Nevertheless, we have cast doubt on the possi-bility of sports performance prediction, but havealso raised key ethical issues where there is aclash between common employment practice andsport and mainstream medical ethics and law.Given the economic asymmetry between thecommercial sports franchise and the individualprofessional athlete, we have shown that genetictesting in sport that is not strictly limited to theprotection of the athlete against harm should beviewed in a very sceptical light by sports medicineprofessionals.

Acknowledgements

Dr Arno Muller’s research project ‘Sports, Ethics andGenomics’ at Maastricht University, Maastricht, the Nether-lands, Department Health, Ethics and Society is funded by theCentre for Society and Genomics (CSG). The CSG is a centreof excellence of the Netherlands Genomics Initiative (NGI).

References1. Genetic Technologies. Sports Performance ACTN3 Sports

Gene Test� 2006 [online]. Available from URL: http://www.gtg.com.au/archives/migration/2/110/383/ACTN3%20web%20brochure.pdf [Accessed 2009 Feb 27]

2. The Human Genetics Society of Australasia. HGSA posi-tion statement on genetic testing and sport performance.Alexandria: The Human Genetics Society of Australasia,2007

3. Williams AG, Wackerhage H, Miah A, et al. Genetic re-search and testing in sport and exercise science: BritishAssociation of Sport and Exercise Sciences position stand[online]. Available from URL: http://www.bases.org.uk/newsite/pdf/BASES [Accessed 2007 Sep 15]

4. Savulescu J, Foddy B. Comment: genetic test available forsports performance. Br J SportsMed 2005 Aug 1; 39 (8): 472

5. Miah A, Rich E. Genetic tests for ability? Talent identifica-tion and the value of an open future. Sport Educ Soc 2006;11 (3): 259-73

6. Munthe C. Selected champions: making winners in the ageof genetic technology. In: Tamburrini CT, Tannsjo T, edi-tor. Values in sport: elitism, nationalism, gender equalityand the scientific manufacture of winners. London: Taylorand Francis, 2000: 217-31

7. Munthe C. Ethical aspects of controlling genetic doping. In:Tamburrini C, Tannsjo T, editors. The genetic technologyand sport: ethical questions. London: Routledge, 2005:XII, 223 S

8. Murray TH. Assessing genetic technologies: two ethicalissues. Int J Technol Assess Health Care 1994 Fall; 10 (4):573-82

9. MaronBJ.Distinguishing hypertrophic cardiomyopathy fromathlete’s heart: a clinical problem of increasing magnitudeand significance. Heart 2005 Nov; 91 (11): 1380-2

10. Corrado D, Thiene G. Protagonist: routine screening of allathletes prior to participation in competitive sports shouldbe mandatory to prevent sudden cardiac death. HeartRhythm 2007; 4 (4): 520-4

11. Pelliccia A, Fagard R, Bjørnstad HH, et al. Recommenda-tions for competitive sports participation in athletes withcardiovascular disease: a consensus document from theStudy Group of Sports Cardiology of the Working Groupof Cardiac Rehabilitation and Exercise Physiology and theWorking Group of Myocardial and Pericardial Diseases ofthe European Society of Cardiology. Eur Heart J 2005;26 (14): 1422-45

12. Maron BJ. Hypertrophic cardiomyopathy: a systematicreview. JAMA 2002 Mar 13; 287 (10): 1308-20

13. Maron BJ. Sudden death in young athletes. N Engl J Med2003 Sep 11; 349 (11): 1064-75

14. Council of Europe. Convention for the Protection ofHumanRights and Dignity of the Human Being with regard tothe Application of Biology and Medicine: Convention onHuman Rights and Biomedicine. Oviedo: The Council ofEurope, 1997

15. H.R.493–110th Congress, 2008. Genetic Information Non-discrimination Act of 2008: an act to prohibit discrimina-tion on the basis of genetic information with respect tohealth insurance and employment [online]. Available fromURL: http://www.govtrack.us/congress/billtext.xpd?bill=h110 [Accessed 2008 Oct 3]

16. Johnson R. The unique ethics of sports medicine. ClinSports Med 2004; 23 (2): 175-82

17. Dunn WR, George MS, Churchill L, et al. Ethics in sportsmedicine. Am J Sports Med 2007 May 1; 35 (5): 840-4

18. Waddington I, Malcolm D, Roderick M, et al. Drug usein English professional football. Br J Sports Med 2005April 1; 39 (4): e18

19. Rankinen T, Bray MS, Hagberg JM, et al. The human genemap for performance and health-related fitness pheno-types: the 2005 update. Med Sci Sports Exerc 2006 Nov;38 (11): 1863-88

20. Unal M, Ozer Unal D. Gene doping in sports. Sports Med2004; 34 (6): 357-62

Genetic Testing and Sports Medicine Ethics 343


21. Miah A. Genetically modified athletes: biomedical ethics,gene doping and sport. London: Routledge, 2004

22. Clayton EW. Ethical, legal, and social implications ofgenomic medicine. NEngl JMed 2003 Aug 7; 349 (6): 562-9

23. Yang N, MacArthur DG, Gulbin JP, et al. ACTN3 geno-type is associated with human elite athletic performance.Am J Hum Genet 2003 Sep; 73 (3): 627-31

24. Lucia A, Olivan J, Gomez-Gallego F, et al. Citiusand longius (faster and longer) with no alpha-actinin-3 inskeletal muscles? Br J Sports Med 2007 Sep; 41 (9): 616-7

25. Roth SM. ACTN3 was never ‘the’ gene for speed. Br JSports Med 2007 Sep 24 (electronic letter) [online]. Avail-able from URL: http://bjsm.bmj.com/cgi/eletters/41/9/616#1707 [Accessed 2008 Dec 11]

26. Janssens ACJW, Gwinn M, Bradley LA, et al. A criticalappraisal of the scientific basis of commercial genomicprofiles used to assess health risks and personalize healthinterventions. Am J Hum Genet 2008; 82 (3): 593-9

27. Pigozzi F, Rizzo M. Sudden death in competitive athletes.Clin Sports Med 2008; 27 (1): 153-81

28. Trusty JM, Beinborn DS, Jahangir A. Dysrhythmias and theathlete. AACN Clin Issues 2004 Jul-Sep; 15 (3): 432-48

29. Garratt CJ. Clinical indications for genetic testing in familialsudden cardiac death syndromes: an HRUK positionstatement. Heart 2008 Apr 1; 94 (4): 502-7

30. Jordan BD, Relkin NR, Ravdin LD, et al. Apolipoprotein Eepsilon4 associated with chronic traumatic brain injury inboxing. JAMA 1997 Jul 9; 278 (2): 136-40

31. McCrory P. Boxing and the risk of chronic brain injury.BMJ 2007 Oct 20; 335 (7624): 781-2

32. Shickle D, Chadwick R. The ethics of screening: is ‘screen-ingitis’ an incurable disease? J Med Ethics 1994 Mar 1;20 (1): 12-8

33. Gillon R. Ethics needs principles – four can encompass therest – and respect for autonomy should be ‘first amongequals’. J Med Ethics 2003 Oct 1; 29 (5): 307-12

34. Murray T. Genetic exceptonalism and future diaries: isgenetic information different from other medical informa-tion? In: Rothstein MA, editor. Genetic secrets: protectingprivacy and confidentiality in the genetic era. New Haven(CT): Yale University Press, 1997: xvi, 511

35. Yesley MS. Genetic privacy, discrimination, and social pol-icy: challenges and dilemmas. Microb Comp Genomics1997; 2 (1): 19-35

Correspondence: Prof. Michael John McNamee, Departmentof Philosophy, History and Law, School of Health Science,Swansea University, Swansea, Wales, UK SA2 8PP.E-mail: [email protected]

344 McNamee et al.


genetic testing and sports medicine ethics

Documents