Screening for predisposition to injury

There are certain advantages to knowing of a genetic susceptibility to injury. Identifying athletes who are susceptible to a specific injury would give physicians the opportunity to advise them of the potential risk. Such an athlete could elect to participate in a different sport. Other options might include modification of training or playing techniques, use of specialized safety equipment, rule changes, or more rigorous medical surveillance and health status monitoring. Furthermore, the identification of genes for sports injury susceptibility may also provide a basis for novel treatment strategies, such as gene therapy.[16]

38.29 The use of genetic information to establish whether an individual has a genetic predisposition to certain sports-related illnesses or injuries is still largely experimental. The Professional Boxing and Combat Sports Board of Victoria has, however, given serious consideration in recent years to making the test for the apolipoprotein E e4 gene compulsory for boxers seeking a licence under the Professional Boxing Control Act 1985 (Vic).[17] Research suggests that this gene, which is connected with late-onset familial and sporadic Alzheimer’s disease, may also be associated with an increased risk of chronic traumatic encephalopathy (CTE), or ‘punch drunk’ syndrome, in boxers. It has been suggested that a milder form of this condition can occur in players of rugby, soccer and other sports associated with repetitive blows to the head.[18]

38.30 Other genetic conditions can also give rise to concern in athletes. Although rare, hypertrophic cardiomyopathy (HCM) has been found to account for a significant number of sudden deaths in athletes during physical activity. One study found that 46% of sudden deaths in young athletes were due to HCM or possible HCM. It is thought that mutations in at least eight genes can cause HCM.[19] Individuals with HCM may be advised not to participate in competitive sports or to participate only in low intensity sports.[20]

38.31 A range of other conditions that are sometimes associated with a genetic mutation, such as deep vein thrombosis and pulmonary embolus, may also be dangerous to athletes. In the United States, the National Collegiate Athletic Association has imposed a mandatory pre-participation evaluation for athletes. This includes assessment for genetic conditions such as Marfan’s syndrome, which has been responsible for the deaths of at least two high profile athletes, one an Olympic volleyball player and one a college basketball player, in the United States.[21]

Issues and problems

38.32 Dr Barry Jordan has noted that:

Advances in molecular biology will undoubtedly expand our understanding of the interactions between inherited disease susceptibility and environmental precipitants. Any future application of such scientific knowledge in the domain of sports medicine must be accompanied by scientific validation, ethical responsibility, moral integrity, and appropriate regulatory policies. Genetic testing may be the wave of the future, but because of uncertainty about genetic and environmental interactions, its role remains to be delineated.[22]

38.33 The issue for sport organisations, and for athletes, is how to respond to the knowledge that athletes with a predisposition to particular genetic conditions are at increased risk of serious illness or injury, and sometimes death, if they participate in certain sporting activities. While exclusion from a particular sport, or sport generally, may not be a serious imposition for many members of the community, it is much more serious for elite athletes who have invested considerable time and other resources in developing their skills.

38.34 The Professional Boxing and Combat Sports Board of Victoria has not proceeded with its proposal to deny boxers a boxing licence on the basis of their genetic information. The issue was considered, but not resolved, at a Boxing and Martial Arts Industry Symposium held in October 2002 by Sports Medicine Australia (SMA).

38.35 The approach of the insurance industry to public liability and other forms of insurance associated with elite athletic competition may have an impact in this area. In March 2002 it was reported that the Australian Football League (AFL) was negotiating with its insurer in relation to public liability insurance cover for games involving Chris Grant. Grant had been diagnosed with a congenital spinal condition and the insurance company initially refused to issue a policy. The AFL reportedly asked Grant to sign an insurance waiver before he was allowed to continue to play. At the time Grant expressed concern about the handling of his case and, in particular, about the fact that his personal health information had been made public. The situation was apparently resolved when the insurer agreed to provide cover on the basis of specialist advice that Grant was at no greater risk of injury than any other player.[23]

38.36 As discussed in other chapters of this Report, the uncertain predictive value of genetic information and the issues surrounding the interpretation of test results give rise to concern, particularly in a non-medical environment. As Dr Barry Jordan indicates:

Complicating all of this is uncertainty about the reliability of genetic testing in sports: It may be very difficult to determine the positive predictive value of a genetic test and to quantify the amount of athletic exposure that will trigger a pathobiologic response.[24]

Submissions and consultations

38.37 SMA is Australia’s peak national umbrella body for sports medicine and sports science, with a broad membership of sports medicine and health professionals, sports trainers, sporting clubs and community members. SMA members are involved in every level of sport from elite competition to grass-roots participation. According to SMA:

The safe participation of Australians in sport and healthy physical activity at all stages of life is the primary concern for all involved with Sports Medicine Australia.[25]

38.38 The Inquiry met with SMA to discuss the implications of the use of genetic information in sport and, in particular, to seek advice on the use of genetic information indicating a predisposition to sports-related illness or injury. In consultations, Gary Moorhead, Chief Executive Officer of SMA, indicated that, because SMA was interested in promoting participation in sport, the organisation would not support policies that excluded people from participation in sport on the basis of their genetic information. SMA would favour the development of policies that made sport safer for participants, including the use of safety equipment and amendments to relevant rules.[26]

38.39 SMA has, for example, produced a Policy on the Safety of Boxing in response to calls from the Australian Medical Association to ban the sport. The policy preamble states that:

There is irrefutable evidence that professional boxing leads to chronic brain injury. The case against amateur boxing is not so clear, but potential for brain injury is there. Potential for similar injuries also exists in kickboxing and full contact martial arts, although research in these sports is currently lacking.[27]

38.40 The policy makes a range of suggestions designed to make boxing a safer sport, including the education of boxers, referees and trainers on the dangers, a require-ment for the informed consent of participants, changes to rules to exclude the head and neck as target areas, and stricter medical supervision of boxers and boxing bouts.

38.41 The approach of SMA to safety in boxing identifies a range of strategies for responding to the risk of illness and injury in sport. These strategies include education of participants, safer rules for all participants, and an increased level of medical supervision. Other strategies might be developed in relation to individual athletes at increased risk of injury or illness. This might involve managing the athlete’s participation in sport, for example, by limiting the number of matches played in a particular period or modifying training methods, rather than excluding the athlete from the sport altogether.

Existing legal framework

38.42 As discussed above, the DDA and the Privacy Act regulate the use of genetic information in sport. In relation to professional positions, the DDA provisions relating to employment will be relevant. These include s 19, which prohibits disability discrimination by a body or authority responsible for the issue of licences or other authorisations necessary for the practice of a profession or the carrying on of a trade or occupation. Section 19(2) goes on to provide that it is not unlawful for an authority or body to discriminate if the person, because of his or her disability, would be unable to carry out the inherent requirements of the profession, trade or occupation.

38.43 This provision would apply to a decision by the Professional Boxing and Combat Sports Board of Victoria, for example, to deny a professional boxer a licence on the basis of genetic information indicating a predisposition to CTE. As discussed in detail in Chapters 31 and 32, the ability to work safely is one of the inherent requirements of a job, as well as giving rise to occupational health and safety issues. The recommendations made in those chapters in relation to employment and occupational health and safety will assist to ensure that genetic information is treated appropriately in employment in the context of sport. Recommendations 32–1 to 32–3, for example, will ensure that, before a genetic test is used to exclude a professional athlete from participation in that athlete’s chosen sport, for occupational health and safety reasons, the test will be approved for that use by the Human Genetics Commission of Australia.

38.44 The exceptions in s 28(3) of the DDA, set out above, do not address the issue of excluding a person from a sporting activity on the basis of a predisposition to illness or injury expressly. It is unclear, therefore, whether that provision would allow a sporting organisation to exclude an athlete on these grounds. It may be possible to argue that where a genetic condition exposes an athlete to a high degree of risk, that athlete is not ‘reasonably capable of performing the actions reasonably required in relation to the sporting activity’.[28]

38.45 Section 29, discussed above, would apply to AIS and other Commonwealth sports programs. Once again it would be important to ensure that reliance on particular genetic information indicating a predisposition to illness or injury in the selection process was reasonable in the context of the particular program. It would be necessary to demonstrate, for example, that the genetic predisposition was relevant to, and likely to have an impact on, the athlete’s ability to fulfil his or her potential as an elite athlete.

38.46 Finally, the recommendations made in Chapters 26 and 27 in relation to the use of genetic information by the insurance industry will ensure that there is greater transparency and an increased level of independent oversight in this complex and rapidly developing area.

Inquiry’s views

38.47 The use of genetic information to screen athletes for predisposition to illness or injury is a more pressing issue than the use of genetic information to assess athletic performance potential. Sporting organisations in Australia are already actively considering using this information to exclude athletes from participation in some sports.

38.48 The recommendations made in other parts of this Report in relation to privacy, discrimination, employment and insurance will assist to ensure a more transparent and balanced approach to the use of genetic information in sport, as well as in a range of other contexts. The Inquiry is of the view, however, that sports organisations and authorities should give further consideration to these issues. In particular, the ASC should take the lead in developing policies and guidelines for use by sporting organisations and athletes on the use of genetic information in relation to predisposition to sports-related illness or injury. The elements included in Recommendation 32–1 in relation to genetic screening of applicants or employees for susceptibility to work-related conditions may provide a starting point for the development of these policies and guidelines.

38.49 The policies and guidelines should be developed in consultation with the HGCA, HREOC, the OFPC and other relevant stakeholders such as Sports Medicine Australia and the Australia and New Zealand Sports Law Association.

Recommendation 38–2 The ASC should develop policies and guidelines for sports organisations and athletes on the use of genetic information in relation to predisposition to sports-related illness or injury. The policies and guidelines should be developed in consultation with the HGCA, HREOC, OFPC and other stakeholders.

[16] B Jordan, Genetic Susceptibility to Brain Injury in Sports: A Role for Genetic Testing in Athletes, The Physician and Sportsmedicine, <>, 6 February 2003.

[17] J Robotham, ‘Pro Boxers Face Going Down for the Gene Count’, The Sydney Morning Herald, 1 June 2001.

[18] B Jordan, Genetic Susceptibility to Brain Injury in Sports: A Role for Genetic Testing in Athletes, The Physician and Sportsmedicine, <>, 6 February 2003.

[19] J Puffer, The Athletic Heart Syndrome — Ruling Out Cardiac Pathologies, The Physician and Sports-medicine, <>, 6 February 2003.

[20] J Moeller, Contraindications to Athletic Participation: Cardiac, Respiratory and Central Nervous System Conditions, The Physician and Sportsmedicine, <>, 6 February 2003.

[21] R Ballard, The Preparticipation Athletic Evaluation, Journal of the Louisiana State Medical Society, <>, 6 February 2003.

[22] B Jordan, Genetic Susceptibility to Brain Injury in Sports: A Role for Genetic Testing in Athletes, The Physician and Sportsmedicine, <>, 6 February 2003.

[23] Australian Associated Press, ‘The wait is over for Grant but his anger may take some time to subside’, Sydney Morning Herald, 22 March 2002.

[24] B Jordan, Genetic Susceptibility to Brain Injury in Sports: A Role for Genetic Testing in Athletes, The Physician and Sportsmedicine, <>, 6 February 2003.

[25] Sports Medicine Australia, Who is Sports Medicine Australia? (2002) Sports Medicine Australia.

[26] Sports Medicine Australia, Consultation, Canberra, 20 November 2002.

[27] Sports Medicine Australia, Policy on the Safety of Boxing, Sports Medicine Australia, <>, 16 January 2003.

[28]Disability Discrimination Act 1992 (Cth) s 28(3)(a).