The regular demands of training and competition make professional, collegiate, and recreational athletes highly susceptible to injury. Avoiding injury is a key component to athletic success in order to stay on the field an out of the trainer’s room. Recent studies have made it possible to use genetic testing to find one’s inherent susceptibilities to sports injuries, so that personal training regimens can be modified to prevent injuries before they occur.
Since 2015, we have performed genome-wide association studies for musculoskeletal injuries and identified DNA markers associated with: ankle sprains (two SNPs), MCL ruptures (2 SNPs), rotator cuff tears (1 SNP), shoulder dislocations (1 SNP), plantar fasciitis (2 SNPs) and De Quervain’s tenosynovitis (a thumb injury afflicting tennis players and golfers due to repetitive use)(1 SNP). As with most SNPs identified in genome-wide association studies, many of the genetic markers for musculoskeletal injuries indicate a relatively mild increase in injury risk. However, this could still be worthwhile to test because the cost of testing is low but the price of injury to highly-valued athletes is high.
In 2017, I developed a genetic algorithm for low bone mineral density (BMD). Low BMD is the largest risk factor for stress fracture as well as other fractures. Stress fractures are common in athletes, especially endurance athletes, due to overuse and overtraining. The genetic algorithm showed a strong correlation with BMD and was able to predict increased risk for osteoporosis (15 fold) and fracture (2 fold). The BMD algorithm is the strongest genetic algorithm for low BMD, osteoporosis or fracture developed to date. This algorithm could be used to identify athletes at risk for osteoporosis or stress fractures, and then to take measures to prevent injury before it occurs.
Currently, I am conducting an IRB-approved study to investigate whether genetic testing can assist in predicting stress fractures for the Stanford and UCLA Varsity cross country teams. We want to know whether the genetic risk score for BMD can be used to reduce stress fractures for cross-country runners.
Since 2012, we have consulted athletes about genetic testing for sports injuries. We have worked with the Stanford Triathlon team, the U. Pacific women’s cross-country team and about 300 endurance athletes in the Bay Area. We created a password-protected, secure website for sports genetics. We met with each athlete for one-on-one consultations lasting about an hour, answered all questions, and encouraged the athletes to share their information with their coach and trainer.
None of the participating athletes has reported negative consequences, for example due to psychological stress from learning about their own injury risk. On the contrary, it was more often the case that the athletes felt empowered by the genetic testing. They felt that the genetic testing provided a new edge for them to train smarter and avoid injuries. There was no genetic discrimination as a result of the genetic testing.
Past experience has also taught us the best way to convey the information to the athletes. The sports genetics website conveys the genetic information in a manner that is quick and easy to understand, yet contains enough depth so that one can investigate any of the DNA markers in more depth.
Last modified 11/2018