Genetic Testing for Sports Performance

1. Dr. Andy Galpin

   The science and practice of enhancing human performance for sport, play, and life. Welcome to Perform. Hello again, friends. I'm Dr. Andy Galpin. I'm a professor of kinesiology in the Center for Sport Performance at Cal State Fullerton. Today, we're going to be talking about the role of genetics in human performance. Now, scientifically, this is referred to as sports genomics. Now, this field can be broken up into two main areas. The first is really what we call descriptive or talent identification. This is things like can you use genetic testing to determine what sports you'll be best in. You'll have more success in soccer or baseball or football or hockey or whatever else. Another example of that would be can we separate the best from the rest here? Are there any genetic markers that can be found in people that will tell us who's going to be a world champion versus just international level or national level or maybe even not good?

2. Dr. Andy Galpin

   Other areas within this descriptive or talent ID are things like your physical attributes. So what genetic markers are available that tell us who's going to be stronger and why, have better endurance, higher VO2 max, more lean muscle mass, and other general physical attributes. And then finally, there's other things such as recovery from injury, who's more resilient to concussions, who's going to be less likely to have soft tissue damage, and other things that'll either put us on the shelf or help us come back from these injuries faster. An excellent example of this is the classic story of a world champion Finnish cross-country skier named Eero Mäntyranta. Now, I apologize on the name pronunciation there, but nonetheless, Eero was a multiple-time world champion, I believe even won three gold medals in cross-country skiing in the early 1960s and '70s. Now, what was crazy about Eero is people were convinced he was cheating somehow.

3. Dr. Andy Galpin

   Remember, this is back in the 1960s and '70s, and testing wasn't that available or extensive, and no one really found any evidence that he was cheating, although side note, he actually was taking amphetamines, but they were legal at the time, I think, but nonetheless. The point is why people thought he was doing something odd it was because his hematocrit and hemoglobin levels were off the chart. Now, in another episode of this podcast, we go into detail about the cardiovascular system and what those metrics are, but very briefly, you can think about your hematocrit as how many red blood cells you have in your body, and your hemoglobin is a similar metric. And what was crazy is his hemoglobin was somewhere between 20 and 24 grams per deciliter, and the average person is more like 14 or 15. So this was off the charts. His hematocrit was over 60%. Most high-level athletes are going to be in the upper 40s, maybe low 50s.

4. Dr. Andy Galpin

   And so they had the metrics that were standardized at that time completely off the charts, and he's out there winning race after race. And so people were convinced he was cheating or doping using EPO or something like that. Well, it turns out he wasn't doing any of those things. We didn't actually know that, though, for almost 25 years later, until 1993, where a geneticist came along, tested him, and identified he had an extremely rare mutation that made his EPO receptors incredibly sensitive. And so when people tested him for his EPO concentrations, they were normal. It just happened to be his receptors were hypersensitive to his training, and so thus, he was a mega responder to that, was able to have hematocrit and hemoglobin concentrations that would honestly probably put most of us in the hospital or dead, and it actually went to his advantage and enabled him to perform at an exceptionally high level.

5. Dr. Andy Galpin

   There actually are somewhat reports, though I'm not sure if they are confirmed, his family had the similar mutation, and so this is why a lot of people think it was actually a very legitimate thing, and he wasn't actually using that as an excuse because it seemed to be persistent among many of his family members as well. And so the idea here is what if markers like this exist, and what if you could find them? What if you're looking for the next talented world record-breaking skier or athlete of some sort, and we could see and find markers of superhuman capability? We can make sure these individuals get the resources and training and access they need to really become something special. Or even if it's within yourself, can you identify something about you that makes you unique, that explains why you respond to exercise well, perhaps not as well, and thus maybe need different training, nutrition, or other modalities to maximize your performance?

6. Dr. Andy Galpin

   While that sounds like a pipe dream, cases like this have existed and are clearly out there. So that would be one example of using sports genomics for talent identification. The second broad category here is what I'll call intervention, which is to say, can you actually get some sort of genetic testing done and then make some sort of change and get more progress based on the information you learn from your genetic profile? This can be done in a lot of different ways, but think about it from the perspective of precision training or precision nutrition. You get a genetic test done, and you realize you'll respond better to A type of training or B type of training, particular supplementation, nutrients, nutrition profiles, eating styles, other things that can happen that will make you respond better and get you faster to your physical and performance goals. From the exercise perspective here, we tend to call this responsiveness.

7. Dr. Andy Galpin

   So you want to know which style of training you're going to respond the best to. From the nutrition perspective, we often call it nutrigenomics. So what is the optimal nutrition based on your unique genetic profile? Now, the third component here is actually what's called gene doping, therapy, or editing, and that is the ability to go in, identify your genetic profile and genome, and then change it to get a certain outcome or response. Now, a lot of people have heard about things like this, but they don't really realize is that actually real? Is it happening? And I can tell you right now the answer is absolutely yes. There have been over 1,000 clinical trials on gene therapy done, and there have been multiple cases and reports of this being used in sporting context. And so this is something that absolutely exists. It's only going to continue to expand in its reach, and I think it's important then for us to understand what is exactly happening here, how is it being used, is it appropriate, and how we should be thinking about this moving forward.

8. Dr. Andy Galpin

   The best example of this was the story of RepOxygent. Now, this was a gene therapy that came out in 2002, not gene editing, but a therapy, a drug. And this was designed actually for anemic folks, and they were trying to enhance the ability of EPO to deliver and utilize oxygen in the body for those that were struggling with red blood cells. Now, this actually was only around for about a year, and I don't think there's any evidence that it ever was put into use into human testing. However, in 2004, there's actually a case of a German track and field coach who was caught and sent into jail for using RepOxygent in his athletes and actually trying to access more of it once it went off the market. And so clearly, I believe this is an area of human performance that we all need to know more about. So if I had to simplify my goal for this entire show, it would be to answer the question about what do we really know about the current state of genetic testing for performance?

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