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Hype or science? Genetic testing in sports

Personal genetic testing is increasingly popular, but it’s a mixture of real science and marketing hype. One area is especially prone to exaggerated promise and possibility: Sports.

Billions of dollars are devoted to professional and amateur athletes, and genetic testing may help answer some of their most burning questions:

Which athletes will excel in which sports?  

People love to learn about areas of strength and untapped potential for themselves and their children. An article in Genome magazine reports that more than three dozen companies market consumer genetic tests in relation to athletic performance, more than double the number available in 2013.

More than 200 genetic variants have been associated with athletic performance. For example, a variant in one gene might indicate a higher ability to build muscle mass, while another might be linked with lung capacity for endurance. However, findings sometimes conflict with one another and more scientific rigor is required before there is strong evidence to support one claim or another.

How vulnerable are athletes to different types of injury?

Research is expanding in areas that can affect athletic performance, such as nutrition and injury. There are more than 300 DNA variations associated with 12 categories that affect injury risk in sports, including the sickle-cell trait and bone density. Researchers have linked a variant in the COL1A1 gene with anterior cruciate ligament (ACL) ruptures.

Which exercise program will be the most effective?

Learning that an athlete may be genetically predisposed to certain injuries could help develop more effective, preventative training programs. If you find that you have the variant associated with ACL injury, maybe you can optimize strength exercises or change your footwear.

As a family doctor, I’m called upon to complete pre-participation sports physicals for kids. There is some debate about the value of these physicals, beyond making sure there are regular doctor visits and a good family history on file.

Instead of completing a generic physical at the start of a sports season, we could inject some genetic knowledge at the point of care. If we learn there is a family history of fractures, maybe a genetic test for bone density could help individualize a training program to avoid injury.

With the advent of cheaper genetic testing, can we use this information to make a real difference for athletes? Absolutely. Genetic tests can give insights into everything from muscle efficiency to lung function to risk for heat stroke. Like other areas of medicine, we have reason to be excited about the potential for clinical-genomic guidance for athletes – from major leagues to little league.

But let’s not get carried away in the marketing hype created by direct-to-consumer genetic testing companies. We must demand scientific rigor and remember that genes are just one part of the equation that drives athletic performance.

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