Protecting human genetic information in sport

by Dominic Nagle

The Australian Law Reform Commission – in its new report Essentially Yours: The Protection of Human Genetic Information in Australia – recommends that SMA be included in developing policies and guidelines for using genetic information in sport.

The report is the result of a two-year inquiry by the ALRC into ways and means of protecting privacy, protecting against unfair discrimination and ensuring the highest ethical standards in research and practice.

Among its major recommendations are that:

• a standing Human Genetics Commission of Australia (HGCA) be established to provide high-level, technical and strategic advice to governments, industry and the community on current and emerging issues in human genetics and to provide a consultative mechanism for the development of policy statements and national guidelines;
• discrimination laws be amended to prohibit unlawful discrimination based on a person’s real or perceived genetic status;
• ethical oversight of genetic research be strengthened by ensuring that all such research complies with NHMRC standard, better supporting human research ethics committees, providing more guidance on best practice to researchers and research participants and developing new rules to govern the operation of research databases;
• employers should not gather and use genetic information except in rare circumstances (eg, where this is necessary to protect the health and safety of workers or third parties) and where it complies with standards developed by the HGCA and National Occupational Health and Safety Commission; and
• safeguards and improved policies and standards be applied to the insurance industry’s use of genetic information for underwriting purposes.

One chapter concentrates on the use of genetic information in sport, examining the use of genetic testing to identify:
• potential elite athletes carrying particular ‘performance’ genes, and
• individuals with genetic predisposition to sports-related injury.

The report notes that researchers from the AIS and the Department of Molecular and Clinical Genetics at Royal Prince Alfred Hospital in Sydney are working to identify genes that may be helpful in predicting natural sporting ability. Their research is aimed at identifying which genes are involved in elite performance, what contribution those genes make and how that contribution compares with other factors such as training.

Access to training and developments programs run by the AIS and other sporting organisations in Australia is regulated by anti-discrimination legislation, including the Disability Discrimination Act. (DDA)

Section 28
(1) It is unlawful for a person to discriminate against another person on the ground of the other person’s disability or a disability of any of the other person’s associates by excluding that other person from a sporting activity.

(2) In subsection (1), a reference to a sporting activity includes a reference to an administrative or coaching activity in relation to any sport.

(3) Subsection 1 does not render unlawful discrimination against a person:

a) if the person is not reasonably capable of performing the actions reasonably required in relation to the sporting activity; or
b) if the persons who participate or are to participate in the sporting activities are selected by a method which is reasonable on the basis of their skills and abilities relevant to the sporting activity and relative to each other; or
c) if a sporting activity is conducted only for persons who have a particular disability and the first-mentioned person does not have that disability.

Section 28 of the DDA “recognises that participation in sporting activity is frequently graded on the basis of skill and ability. Where such discrimination is reasonable, it is not unlawful…If the AIS, or other sporting organisation, were to introduce genetic testing as part of the selection process it would be important to ensure that the testing was a reasonable method of selection. Organisations would have to consider issues such as whether the test results were sufficiently reliable and relevant to the skills and abilities required. If not, it would be open to an athlete who was ‘reasonably capable of performing the actions reasonably required in relation to the sporting activity’ to challenge the decision of the selectors under Sec 28.

“The potential collection of genetic information from athletes also gives rise to privacy considerations…Privacy protection for personal health information is not comprehensive in Australia….The Privacy Act 1988 does not extend to state and local government organisations except in the ACT. Privacy legislation in other States and Territories is either absent, incomplete or non-uniform,” the report said.

“It is also likely that that a range of sports organisations will fall within the small business exemption in the Privacy Act. Although small business organisations may hold health information about athletes, they are unlikely to fall within coverage of the Act as “health service providers’ or ‘traders in personal information’. In addition, in relation to professional athletes, genetic information will be held in ‘employee records’, which also fall outside the protection of the Privacy Act.

“Genetic information is not currently widely used in sport. However, it is likely that financial and other pressures, which operate at the elite end of the sporting spectrum, will mean that genetic testing and genetic information will come to play a role in the early identification and selection of athletes for participation in elite competition, training and scholarship programs.”

The report recommended that the ASC and other stakeholders keep the anti-discrimination and privacy issues under review (See Recommendation 38-1).

Recommendation 38-1
The Australian Sports Commission (ASC) should monitor the use of genetic testing and genetic information for identifying or selecting athletes with a view to developing policies and guidelines for sports organisations and athletes. The policies and guidelines should be developed in consultation with the Human Genetics Commission of Australia (HGCA), the Human Rights and Equal Opportunity Commission (HREOC), the Office of the Federal Privacy Commissioner (OFPC), and other stakeholders.

The use of genetic screening for predisposition to injury was still largely experimental, the report said, but the Professional Boxing and Combat Sports Board of Victoria had given serious consideration in recent years to making the test for the apolipoprotein E e4 gene compulsory for boxers seeking a licence under the Victorian Professional Boxing Control Act.

“Research suggests that this gene, which is connected with late-onset familial and sporadic Alzheimers’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.

“Other genetic conditions can also give rise to concerns 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. Individuals with HCM may be advised not to participate in competitive sports or to participate only in low intensity sports.

“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.”

The report said that the issue for sports organisations and 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 serious 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.

The Inquiry had discussed with SMA the implications of the use of genetic information in sport and, in particular, had sought advice on the use of genetic information indicating a predisposition to sports-related illness or injury. SMA, it said, had indicated that, because it was interested in promoting participation in sport, it would not support policies excluding people from participation on the basis of their genetic information but would favour developing policies making sport safer.

Its recommendations relating to employment and occupational health and safety “will help ensure that genetic information is treated appropriately in employment in the context of sport,” the report said. “They would ensure, for example, 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 HGCA.”

The report pointed out that the exceptions in Sec. 28(3) of the DDA did 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’.

“Section 29 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.

Sec. 29
It is unlawful for a person who performs any function or exercises any power under a Commonwealth law or for the purposes of a Commonwealth program or has any other responsibility for the administration of a Commonwealth law or the conduct of a Commonwealth program, to discriminate against another person on the ground of the other person’s disability, or a disability of any of the other person’s associates in the performance of that function, the exercise of that power or the fulfilment of that responsibility.

“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.”

The report has made a number of recommendations relating to privacy, discrimination, employment and insurance generally which it says will help ensure a ‘more balanced and transparent’ approach to the use of genetic information in sport.

It considered, 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 its recommendation concerning genetic screening of applicants or employees for susceptibility to work-related conditions (Recommendation 32-1) may provide a starting point for the development of these policies and guidelines.”

Recommendation 32-1
The HGCA should establish procedures to assess and make recommendations on whether particular genetic tests should be used in employment for screening for susceptibility to work-related conditions. In assessing particular genetic tests, the HGCA should consider whether
• there is strong evidence of a clear connection between the working environment and the development of the condition;
• the condition may seriously endanger the health or safety of employees; and
• the test is a scientifically reliable method of screening for the condition.

These policies and guidelines, the report added, should be developed in consultation with the HGCA, HREOC, the OFPC and other relevant stakeholders such as SMA and ANZSLA.

Essentially Yours (ALRC Publication No. 96) is in two volumes. Price, postage and other details can be found at www.alrc.gov.au.