Major Sports Injuries Can Possibly Be Predicted and Avoided Through DNA Testing, According to AxGen Research – SportTechie

Concussions, ACL tears and Achilles ruptures are all debilitating injuries that can derail athletic careers. Stress fractures and plantar fasciitis can linger and recur. These ailments often seem like bad luck, suffered by happenstance, but what if new research suggests that some athletes were born more susceptible to these injuriesand that maybe they can be prevented?

The Palo Alto-based startup AxGen, led by a respected former Stanford University geneticist, is pioneering peer-reviewed DNA tests that indicate key genomic markers of specific injury risk. AxGen, named as shorthand for actionable genetics, offers tests for 13 sports injuries and counting, as well as 15 biomarkers that can prompt users to take action through preventative exercises or nutrition.

It's scientifically rigorous, and it addresses the idea that all athletes are not created equal, and some of them are going to be at more risk for a knee injury at birth and more at risk for shoulder injury, says Stuart Kim, a co-founder and the CEO of AxGen. We could know that, and we could alert an educated team.

Kim studied and trained at Dartmouth, CalTech and MIT before joining the faculty at Stanford, where he was a professor for 27 years, earning numerous awards for genetics research. Back in 2008, he had lunch with Jim Kovacha former San Francisco 49ers linebacker who later earned medical and law degrees and, at the time, was president of the Buck Institute for Age Researchwhen they ruminated on this idea of using genetics to test for injury risk.

The idea kept gnawing at Kim. When some significant advances in the field a few years ago made the prospect of implementing these tests realistic, he left his tenured position at the Farm. For me, it became such a compelling idea that I just had to do it, Kim says, who started the company with Andrew Roos, a sports genetics research scientist working in Kims lab. AxGens 11-member advisory board includes Kovach, Pro Football Hall of Famer Ronnie Lott and six Stanford professors in genetics and sports medicine.

It's scientifically rigorous, and it addresses the idea that all athletes are not created equal, and some of them are going to be at more risk for a knee injury at birth and more at risk for shoulder injury. We could know that, and we could alert an educated team.

One of the breakthroughs for researchers was the availability of two giant genomic databases: the UK Biobank and the Research Program On Genes, Environment and Health. Between them, that encompassed the genotypes of nearly 600,000 people and, crucially, their medical histories. Machine-learning algorithms are deployed to identify the genetic differences among those who suffered a specific injury and those who didnt --producing research with strong statistical significance.

Our rule is, we want something that's called genome-wide significant, which means that it's the strongest marker in the genome and its association is enough to raise it above the noise, Kim says. That's the filter we use. That filter is about basically 10 to the minus-8 [for p-value], and you get to think it's real. This test I wrote up yesterday, the p-values are 10 to the minus-90 in the genetic markers. So all of those genetic markers, I feel confident, are very likely to reproduce. But then there's another level of power where you dont use just one, you start to combine them into an algorithm.

Earlier attempts in this field focused on what were called candidate genes, pre-selected genes presumed to be involved in a certain condition. Kovach, who did early genetics work on the Human Genome Project while leading an entrepreneurship program at the Case Western Reserve University School of Medicine, praises Kims rigor. "He's such a well-developed researcher, which is really what the field needs, someone just like Stuart to give credence to the statements that one would like to make about the product, says Kovach, who is now the executive director of translational entrepreneurship at the U.C. Davis School of Medicine.

The biggest hurdle is actually convincing teams of the reliability of the genetic tests, one, because there are a lot of snake oil companies out there selling genetics, who are essentially selling genetic markers based on studies that we don't think are very legitimate, says AxGen director of business development Madison Hayden. So there is that. There's also the fact that genetics are pretty new in the world of sports. And there's not a lot of, I would say, genetic literacy amongst athletic trainers and sports medicine doctors and the people that oversee sports medicine for professional teams. So we run into both of those problems.

The first major pro sports team client to sign on is Sheffield United FC, which is competing in the second-division Championship League of English soccer after spending the past two seasons in the Premier League. Sheffield United physiotherapist Ruth Titterton describes it as helpful additional input in designing fitness programs for the players. If we can use it as a tool along with everything else to help us provide more information...then I think that's where the money and the interest and the statistics can help, Titterton says.

The AxGen tests were compulsory for players at Sheffield United, with the team making clear that the results will only be used to design prehabilitation programs in hopes of staving off possible injuries. We make clear to them, it's not going to affect contracts, Titterton says, adding: It's really purely for the medical department to make sure that we're doing the best for you to go forward. So there wasn't really an issue there.

Collective bargaining agreements in several North American sports leagues explicitly prohibit genetic testing, and AxGen is beginning to reach U.S.-based athletes through private training facilities that are clients, such as the Chicago Sports Institute and Rehab-U. We are an athlete-centric company, and we want to do this for the benefit of athletes, says Hayden, who was an All-American and captain of Stanfords volleyball team before suffering a career-ending rotator cuff injury playing professionally in Europe.

Hayden adds that team deals are structured to explicitly bar management from accessing the results. But on top of that, we try to basically educate teams to not over interpret the data, he says. The case we make is that it's much better to use this as a training tool than to actually cut players because of their red flags. Because if you do preventative training for injuries players are at risk for, they're much more likely to be healthy.

AxGen really emphasizes the ability for users to take action. A strength and conditioning coach has been retained to provide a library of materials for AxGen users to target areas that are identified as being susceptible to injurystrengthening the muscular sheath around the Achilles tendon, for instance.

That's one of the big pillars of whether we choose to include a test or not on our platform is, are there actionable recommendations that we can get to the athlete? Hayden says. And if there's not, if theres nothing you can do about an injury, well, then, maybe the athletes better off not knowing that they are at risk for it.

The pace of genetic research remains rapid, and AxGens inventory of tests continues to evolve. A persons DNA is static, so new results will periodically populate the personal dashboards of existing usersmore information without any additional action. In addition to the genetic flags for injury, AxGen tests for an athletes susceptibility to such substances as ibuprofen or caffeine in order to provide guidance on how much and how often those should be used.

Of the 600,000 entries in the genetic databases, the majority of those people inherently are not elite athletes. Because some of the injuries tested for by AxGen require an active lifestylesomeone prone to an ACL rupture wont suffer one if they dont get off the couch muchso Kim speculates that the injury-risk in athletes is much higher than what those databases suggest. He is leading follow-up experiments to suss this out, including one with the Stanford and UCLA cross country teams.

Exactly what the increased risk isand how much AxGen can reduce or eliminate the injuriesremains an open question. When the teams ask this, here's what I tell them -- that I don't know, Kim says. With cross country, everybody's the same age, basically the same body shape, they all run the same 100 miles, and who breaks and who doesn't break during the season then, I think, it's much more due to inherent differences. So I wouldn't be surprised if these genetic differences play out larger in athletes, where they're all kind of similar.

But Kim also tells the coaches that the serious research hell need to conduct to find a definitive answer may take five years. Or else they can use AxGen and try to reduce their number of injuries in the interim. This excess [prehabilitation] training, it's going to work a little or a lot, Kim says. I think that's the only thing we don't really know.

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Major Sports Injuries Can Possibly Be Predicted and Avoided Through DNA Testing, According to AxGen Research - SportTechie