Why are there laws and professional standards applying to genetic sex testing?
This is the first in a series of posts on sextestinginsport.org about why there are laws and professional standards at the national and international levels governing practices of genetic testing and the processing of genetic data. The series aims to support lawmakers, practitioners, sports policymakers, and researchers to understand the legal and ethical considerations associated with genetic testing and the processing of genetic data to determine eligibility in sport.
Over the coming weeks, the series will discuss (1) European laws governing genetic testing in and beyond sport; (2) genetic testing laws outside of Europe; (3) data protection laws and their relevance to genetic sex testing in sport; and (4) professional codes governing genetic testing in and beyond sport. We hope these blog posts can serve as useful resources both individually and as a collective.
Part I: Why are there European laws governing genetic testing in and beyond sport?
Authored by STS editorial group members Sone Erikainen, Marcus Mazzucco, and Madeleine Pape
When the International Olympic Committee (IOC) abandoned mandatory genetic sex testing for the women’s category in 1999 after decades of lobbying by geneticists, countries across the world were increasingly viewing genetic testing as a practice warranting careful regulation. Genetic data is widely considered to be unlike any other form of personal data: it is irreversible, distinctive and difficult to anonymize, can be predictive of future harm, and can lead to various forms of discrimination. This is particularly so in the case of genetic sex testing, the results of which are considered extremely sensitive according to numerous national, regional and international laws. For these reasons, in many contexts a range of laws and professional standards exist to prohibit or restrict the performance of genetic testing and the processing of genetic data.
In this blog post, we focus on the historical processes that led to genetic testing laws being developed in the first place. Questions around genetic sex testing in sport are part of a much broader history of legal and ethical issues pertaining to the use of genetic technologies. National and international laws that apply to genetic testing today were not developed in a vacuum: rather, they emerged in response to wider concerns around how genetic technologies could and were interfering with human rights, including integrity, privacy, dignity, and freedom from discrimination. By tracing this historical trajectory, we show that the factors that led to such laws have not changed: the results of genetic sex testing remain highly consequential, warranting extreme care and respect for the principles of bodily integrity, freedom from discrimination, and free and informed consent, particularly in a context where there is no medical justification or clear scientific evidence justifying the imposition of this practice on women and girls.
The eugenic potential of genetic technologies
In the late twentieth century and especially the 1990s, advances in research and genetic technologies made genetic testing relatively widely accessible, especially in countries with well-established biotechnological infrastructures. While genetic testing technologies were adopted in clinical and other healthcare contexts, they also became potentially available for non-medical purposes. These genetic technologies, including genetic testing, facilitated significant improvements in healthcare, including in the diagnosis and treatment of genetic diseases. However, they also gave rise to new ethical and legal concerns.
For example, genetic testing and screening were historically used to identify alleged deleterious genes connected to marginalized groups, such as African Americans and Ashkenazi Jews. They were also used to screen prenatally for genetic conditions such as Down Syndrome, which facilitated reproductive choice but also raised ethical concerns around the emergence of new kinds of eugenic practices. These concerns pointed to the potential slippery slope of prenatal genetic disorder screening leading to the selection of desirable non-medical genetic traits, like eye colour or skin tone, which gave rise to anxieties over potential “designer babies.” Although the notion that there is a genetic basis underlying socially stigmatized identities or traits (such as homosexuality or criminality) is now defunct or highly contested, there were fears that genetic tests or screening could be used to prevent the birth of people who were considered socially undesirable. The persistent legacy of eugenics was the basis for requiring legal control over the new genetic biomedical technologies to prevent their discriminatory use.
By the 1990s, and in the context of public and policy concerns over how genetic information could be used in ways that discriminate against individuals as well as undermine dignity, integrity, or privacy, states moved towards enhanced regulation of genetic technologies, including genetic testing and screening. Laws governing genetic testing are thus grounded in the historical relationship between these technologies and human rights violations, with this lesson continuing to underpin the regulation of genetic testing and screening today, including in the context of sport.
The Oviedo Convention (1997)
In Europe, recognition of the need to develop a common approach to emerging biotechnologies led the Council of Europe to harmonise legal standards across its member states. The result was the adoption of the Convention on Human Rights and Biomedicine (also known as the “Oviedo Convention”) in 1997, which established an international, human rights-based framework to safeguard human dignity in the face of advances in biomedicine and biotechnologies, including genetic technologies. Central concerns underpinning the Convention include genetic discrimination and the use of genetic data to stratify social groups in ways that reproduce historical injustices. Accordingly, the Convention contains the following provisions relevant to mandatory genetic sex testing in sport:
Article 12 specifies that certain types of genetic tests can only be performed for health purposes or for scientific research linked to health purposes, and only if genetic counseling is provided. An additional protocol specifies that the clinical utility of a genetic test must be taken into account before offering the test to an individual for a health purpose.
Article 5 emphasizes the need for free and informed consent prior to any biomedical intervention carried out by health professionals, including specimen collection and the genetic testing of that specimen for medical or non-medical purposes. It clarifies that informed consent requires an individual to be given information about the purpose, nature, consequences and risks of the biomedical intervention.
Article 10 makes explicit that just as individuals have the right to know any data about them collected via genetic testing, they also have the right not to know. That is, individuals cannot be forcibly subjected to their own genetic data. This principle is also associated with the right to an open future; that is, individuals, particularly children, have a right to develop and shape their identities without being hindered by genetic data that was collected from them when they were too young to consent.
The Oviedo Convention is a legally binding treaty that requires states that have ratified it to bring their national legislation into conformity with its provisions. The Convention has been ratified by 31 Council of Europe member states, making it a major European framework regulating biomedical technologies. While national laws may adopt stricter standards of protection, once states ratify the Convention, they cannot introduce measures that fall below its minimum requirements.
The adoption and subsequent widespread ratification of the Oviedo Convention since the late 1990s facilitated the expansion of bioethics and genetic testing legislation across Europe. Many states introduced national laws to prohibit certain types of genetic testing for purposes unrelated to health and scientific research, codify principles relating to free and informed consent, the right not to know and the right to an open future, and constrain the processing of genetic data. These national legal frameworks, framed by the Oviedo Convention’s transnationally shared principles, secured the idea that genetic testing should be carefully regulated and circumscribed by law.
For example, in Switzerland––where the IOC and other international sports federations with genetic sex testing policies are headquartered––the Federal Act on Human Genetic Testing prohibits discrimination on the basis of genetic material, sets out detailed requirements for obtaining an individual’s explicit, voluntary, and informed consent for genetic testing, entitles an individual to refuse to be informed of information about their genetic material, and prohibits the disclosure of an individual genetic data without their consent.
Parallel concerns in the context of sport
The use of genetic testing in elite sport developed alongside these wider legal developments. From the late 1960s until the end of the twentieth century, international sports governing bodies used genetic sex testing to determine eligibility for women’s competition. However, these tests were subject to increasingly widespread criticism and opposition from scientists, including geneticists like Albert de la Chapelle, Malcolm Ferguson-Smith, Joe Leigh Simpson, and Louis Elsas.
By the 1990s, there was a general scientific consensus that a genetic test is too simplistic to reliably determine a person’s sex, while athletes who “failed” the tests experienced serious personal, professional, and psychological consequences. Critics in France in 1992, including the Ministry of Youth and Sports and the National Consultative Ethics Committee, raised the additional concern that athletes could not freely consent to genetic testing when refusal meant exclusion from competition, expressed uncertainty over whether sensitive genetic information could realistically remain confidential, and objected to the notion that tests developed for medical purposes should be repurposed to determine sporting eligibility.
These criticisms about the use of genetic testing in sport were consistent with wider concerns driving the development of broader genetic testing laws across and beyond Europe: that genetic data is particularly sensitive and thus requires high-level protection; that many forms of genetic testing require a clear medical or health-related rationale; and, that individuals must be protected against discrimination, coercion, and unnecessary intrusions into their genetic privacy. For these reasons, the use of genetic sex testing in sport was not exempt from these laws. Indeed, legislative debates in Norway reveal that lawmakers made a conscious decision to amend the country’s Biotechnology Act in 1997 to protect athletes by prohibiting genetic testing of sex characteristics for non-medical purposes, including sporting eligibility.
By the time the Oviedo Convention entered into force and national laws regulating genetic testing began to proliferate, genetic sex testing in sport had largely been discontinued. In 1999, on the unanimous recommendation of the IOC Athletes’ Commission, the IOC Executive Board abolished the use of genetic sex testing as of the 2000 Sydney Olympic Games. International sports federations that had not already discontinued genetic testing followed this lead, with the International Volleyball Federation becoming the last to abandon genetic sex testing in 2004.
Consequently, when many national laws on genetic testing were enacted in the early 2000s, there was little reason to include explicit prohibitions on genetic sex testing in sport, as the practice had already mostly stopped and, in any event, was prohibited under broader restrictions on genetic testing for non-health purposes. For example, in Sweden, a government report relating to the 2006 Genetic Integrity Act notes that, while “genetic sex testing should … not be carried out in the way it has been within sport,” there was no need to specifically reference genetic sex testing in sport in the legislation, because this testing had been abolished and there was a general consensus that it should no longer be carried out. The Swedish Government nonetheless stated explicitly that there was likewise no reason to exempt sport from the general prohibitions established by the Act concerning genetic testing and genetic data.
The legal frameworks developed in Europe during this broader history of regulating genetic technologies continue to be in force and apply to contemporary contexts where genetic testing in sport has been reintroduced.
Coming next: Genetic testing laws outside of Europe.