Practical Use of Genetic Testing in Athletes

Genetic testing for health-related purposes is becoming increasingly common in the practice of medicine. Identification of genetic forms of cardiovascular disease, including channelopathies, cardiomyopathies, and aortopathies, is becoming more of an important component of sports cardiology practices. This chapter will review general principles of genetic testing and provide guidance on how genetic testing can help in the detection of inherited cardiovascular disorders that are associated with sudden cardiac death and which have an impact on athletes and decisions regarding sports participation. Medical providers who are provided with genetic data on their patient-athletes must be able to separate properly used and validated genetic information from increasingly popular direct-to-consumer genetic testing products that offer unsupported claims to predict such things as athletic ability, sports performance, and injury risk. The growing market of such genetic tests being advertised directly to the athletic community has led to a 2015 scientific consensus statement warning on the danger of these products to aspiring athletes that can be detrimental to their physical and psychological health. Our role as healthcare providers is to use validated genetic testing practices and data as an added tool promoting the health and safety of athletes.