Playing with heart and soul…and genomes: sports implications and applications of personal genomics

Abstract

Whether the integration of genetic/omic technologies in sports contexts will facilitate player success, promote player safety, or spur genetic discrimination depends largely upon the game rules established by those currently designing genomic sports medicine programs. The integration has already begun, but there is not yet a playbook for best practices. Thus far discussions have focused largely on whether the integration would occur and how to prevent the integration from occurring, rather than how it could occur in such a way that maximizes benefits, minimizes risks, and avoids the exacerbation of racial disparities. Previous empirical research has identified members of the personal genomics industry offering sports-related DNA tests, and previous legal research has explored the impact of collective bargaining in professional sports as it relates to the employment protections of the Genetic Information Nondiscrimination Act (GINA). Building upon that research and upon participant observations with specific sports-related DNA tests purchased from four direct-to-consumer companies in 2011 and broader personal genomics (PGx) services, this anthropological, legal, and ethical (ALE) discussion highlights fundamental issues that must be addressed by those developing personal genomic sports medicine programs, either independently or through collaborations with commercial providers. For example, the vulnerability of student-athletes creates a number of issues that require careful, deliberate consideration. More broadly, however, this ALE discussion highlights potential sports-related implications (that ultimately might mitigate or, conversely, exacerbate racial disparities among athletes) of whole exome/genome sequencing conducted by biomedical researchers and clinicians for non-sports purposes. For example, the possibility that exome/genome sequencing of individuals who are considered to be non-patients, asymptomatic, normal, etc. will reveal the presence of variants of unknown significance in any one of the genes associated with hypertrophic cardiomyopathy (HCM), long QT syndrome (LQTS), Marfan’s syndrome, and other conditions is not inconsequential, and how this information is reported, interpreted, and used may ultimately prevent the individual from participation in competitive sports. Due to the distribution of genetic diversity that reflects our evolutionary and demographic history (including the discernible effects of restricted gene flow and genetic drift associated with cultural constructs of race) and in recognition of previous policies for “leveling” the playing field in competitive sports based on “natural” athletic abilities, preliminary recommendations are provided to discourage genetic segregation of sports and to develop best practice guidelines for genomic sports medicine programs that will facilitate player success, promote player safety, and avoid genetic discrimination within and beyond the program.

Pesquisas genéticas, prognósticos morais e discriminação genética: um estudo de caso sobre traço falciforme

“…O caso estudado pode ser considerado relevante devido à lacuna, no país, de pesquisas que analisem o uso da informação genética no meio desportivo e as repercussões sociais desse uso na vida de atletas (GUEDES; DINIZ, 2007). Além disso, o caso suscita a necessidade de reavaliar o avanço de programas de rastreio genético sem os devidos fundamentos éticos e a possibilidade de segregação genética no meio esportivo (WAGNER, 2013).…”

“…A adoção de testes genéticos no meio esportivo, porém, levanta dilemas éticos tendo em vista os usos que se podem fazer das informações obtidas. Os resultados dos testes genéticos podem tanto servir para o fornecimento de assistência e cuidados imediatos em saúde, capazes de evitar agravos à integridade física, como revelar prognósticos de doenças ou dar margem a especulações sobre o desempenho futuro do atleta em treinamentos e competições (WAGNER, 2013). Sendo assim, uma questão no debate contemporâneo é: qual uso deve ser feito da informação sensível obtida por meio de testes genéticos aplicados em atletas?…”

Sports genetics moving forward: lessons learned from medical research

“…In fact, such application is already occurring, with some groups using commercially available genetic tests to guide the training, and even selection, of athletes (67). Yet such application is dependent on the rigor and robustness of the existing research, which currently faces the many challenges that we have outlined here.…”

“…The currently available genetic tests assess a handful of common variants purportedly associated with athletic ability (such as ACTN3, ACE, NOS3) or injury (such as COL5A1, COL1A1, MMP3) (67). Given the available data, we can be quite confident in some of these associations (e.g., ACE for endurance and ACTN3 for power events) (47), while most others are somewhat suspect since these associations have not been replicated and, at a minimum, need further investigation before any clear conclusion can be drawn.…”

The Dawning Age of Genetic Testing for Sports Injuries

“…The sports genetics program at Stanford University utilizes genetic variants associated with bone mineral density – as well as other pathological or predisposing states such as osteoporosis, asthma, vitamin and mineral levels, red blood cell phenotypes, caffeine metabolism, and disc degeneration – that can be used to reduce injury risk. 45,55 By incorporating results from GWA studies, the Stanford Sports Genetics Program has greatly expanded the set of DNA polymorphisms that can be used to reduce sports injury risk from approximately 13 previously known polymorphisms to 195 polymorphisms now currently in use. 45 …”