Genetic information will soon be a standard part of sports, used to customize training, personalize nutrition, and even to identify talent. Over the last few years, DNA analysis firm Athletigen and elite track and field training facility Altis have been working together to explore and develop that future.
Through collaboration, both Altis and Athletigen have been hoping to gain a head start in this race, learning what genetic information is important and how to convert that into actionable insights. A new product launched by Athletigen on Tuesday, the Altis Sport Performance Report, is hoping to bring some of what the two organizations have learned to consumers, both pro and amateur.
Altis’s athletes have been the lab rats that Athletigen can study, a population of highly fit individuals who closely follow training and nutrition protocols, generating accurate data that give context to the results from genetic testing. John Godina, a three-time Olympian who founded Altis in 2013, describes his organization as something between a training center and an educational and research institute. “[Altis] is a great science lab,” he said. “It gives us a chance to do stuff in a controlled environment that can benefit all kinds of different people.”
More than a dozen Altis-trained athletes competed at the Rio 2016 Olympic Games, including Canadian sprinter Andre de Grasse, who brought home silver from the 200m and bronze from both the 100m and 4x100m relay. Athletigen would not confirm which Altis athletes have been screened, citing privacy concerns, but the number reaches above 100. Through Altis’s apprentice coach program, Athletigen has also engaged with hundreds of coaches, and, by extension, may have impacted the training of thousands of athletes.
Akeem Haynes, a teammate of de Grasse both at Altis and in the 4x100m relay at Rio 2016, is quoted on Athletigen’s website about his experience with genetic testing. “Athletigen gave me different insight, gave me a slight edge … Anywhere an athlete can have a slight edge is huge.” (Haynes received financial support from Athletigen in the run up to the Games.)
When the sequencing of the human genome was completed in 2003, that effort had taken 13 years and cost $2.7 billion. Athletigen now charges $199 and takes four to six weeks to scan a person’s DNA for the different gene variants used in the Altis report. (The company scans for more than 850,000 gene variants, but the majority of these are not yet associated with athletic performance or ability.)
While Athletigen has previously offered athletes DNA-based advice, the new report is the first that is specifically tailored as a result of its work with Altis. The report offers information and advice based on more than 50 gene variants related to 22 different relevant traits, from fat metabolism to muscle growth, and caffeine sensitivity to error avoidance. Athletes are given information on how their gene variant might affect each trait, details on how common a variant is in the general population, an explanation of each gene’s role, and advice on how this knowledge could be used to adjust training, recovery, and nutrition. The aim of the report, according to CEO and cofounder Jeremy Koenig, has been to combine his company’s genetics knowledge with Atlis’s coaching experience and training recommendations.
Athletigen also includes a scientific confidence level for each trait. The highest confidence, A, requires the gene variant-to-trait association to have been tested in at least three independent studies of at least 1,000 individuals. One or more of those studies needs to have considered different ethnic groups.
Athletigen looks for genetic variations that are known as single nucleotide polymorphisms or SNPs (“snips”). These are changes in a single base—the DNA letters A, C, G, and T—at a specific location, but they can also indicate larger substitutions in sections of the surrounding code. An example is the rs1815739 SNP on the ACTN3 gene of chromosome 11. This gene encodes a protein called alpha-actinin-3, which is found only in fast-twitch muscle fibers. But when the usual C at the rs1815739 location is switched out with a T, production of the protein is disrupted, favoring slow-twitch fibers instead.
Theoretically, having the CC genotype, one letter for each of the relevant bases on the maternal and paternal copies of chromosome 11, should confer an advantage in power sports—that variant has become known as the “sprint gene.” But most people with the sprint gene are not sprinters, and not all sprinters have the sprint gene. Combining various studies together implies that as many as 25% of the US population could have that variant.
Those statistics create a problem for direct-to-consumer genetic testing in sports: the sprint gene seems to be neither essential to, nor predictive of, athletic destiny. In 2015, many of the sports-genetics research initiatives being run by universities around the globe were unified under the banner of the Athlome Project, an enterprise reminiscent of the idea that started this all, the Human Genome Project. The group of 24 leading researchers behind the Athlome Project published a consensus statement in the British Journal of Sports Medicine that November warning that “genetics tests have no role to play in talent identification or the individualised prescription of training to maximise performance.” A year later, the Australian Institute of Sport echoed that opinion in the same journal, and an article by Rebecca Robbins published on STAT in November 2016 warned of this growth of genetic testing in sports, expressing concern that the science might not yet back the claims companies are making.
Genetic variants are only classified as SNPs if they occur within at least one percent of the population, “and everything that’s present in more than one percent of the population can’t be that bad,” explained Mikael Mattsson, an exercise physiologist and researcher in a genetics lab at Stanford University. (Mattsson was also a contributor to the BJSM consensus statement against genetic testing in sports.) “And if it can’t be that bad, it can’t be super good, either.” Each SNP might also only contribute a small amount to any one trait, so to accurately determine the genetic impact on that trait could require studying tens if not hundreds of relevant SNPs.
According to Eric Topol, a professor of genomics at the Scripps Research Institute in La Jolla, Calif., “We’ve jumped the gun by taking these soft markers and making too much out of them.” The problem, Topol explained, is that our ability to test for SNPs far outstrips our knowledge of their importance.
Coaches at Altis arrived at a similar conclusion to the BJSM consensus statement: There is virtually zero value in tests for variants of ACTN3. “We can look at the ACTN3 gene, and if you don’t have that, there’s nothing much we can do about it,” said Altis CEO Stuart McMillan. “So it’s not going to affect what we do in the least.”
Jeremy Koenig, who left a research job developing fertility screens at Performance Genomics to found Athletigen, emphasizes that his company has no interest in talent identification, and that sports genetics shouldn’t be about classifying gene variants as either good or bad. “You can’t really pass or fail a genetic test,” he explained.
Koenig calls DNA “our collective technology,” and lists the philosopher Alan Watts as one of his thought idols. “Things are as they are,” Watts once said. “Looking out into the universe at night, we make no comparisons between right and wrong stars, nor between well and badly arranged constellations.”
Koenig believes that the information extracted from Athletigen’s analysis can be empowering, whether or not it seems to show a genetic advantage or disadvantage. He is also careful to meter any expectations of what the results might hint at. “In some incidences we’re very confident [in the science], and in others it’s early days,” he said. “That comes back to the scientific process. Part of that scientific process is being transparent with the state of the research.”
“We’re certainly not in a space where dark chocolate and red wine are good for you one day, and the next day they’re not.”
Koenig ran track at Dalhousie University, competing in the 60m indoor sprint. He has also worked as a strength and conditioning coach, mostly with hockey players. Past clients have included former NHL players James Sheppard and Sean O’Donnell. Boston Bruins two-time All-Star Brad Marchand is quoted on Athletigen’s webpage. “In today’s NHL, simply working hard is not enough. Using Athletigen ensures that I am exhausting my efforts in the right direction. Knowing my genetics means that there is no wasted effort.”
Though Altis predominantly works with track and field athletes, Koenig sees the knowledge gained from the partnership as being relevant across all athletic disciplines. “Track and field is the foundation for all sports,” he explained.
At its core, Athletigen is a social technology company. The more athletes who sign up, the more powerful Athletigen’s database will become. Even the most ardent critics of direct-to-consumer sports genetics see huge potential in that. “In the future they might build their database and do the analysis from their data, which could be very beneficial,” Mattsson said.
“If we got the really extreme phenotype—top notch athletes—and we sequenced them,” Topol said, “we eventually will learn.”
And Koenig emphasizes the partnership with coaches has become a key part of his company’s platform. According to Dan Pfaff, Altis’s head coach who has experience coaching athletes at 10 different Olympic Games, “Athletigen showed me how DNA can be used to help people achieve world-class performance.”
The new Altis report is designed to provide recommendations from Altis’s coaching staff based on insight on an athlete’s genetics gleaned from Athletigen’s analysis. For those who wish to know more, the report also includes videos of seminars from Altis’s apprenticeship coaching program. The aim, according to Koenig, is to combine genetics and coaching expertise without overwriting tried-and-true training methodologies. “[Not just] How do we get this into the hands of athletes,” Koenig said, “but how do we do it in a way that benefits them.”
As much as each athlete might be interested in his or her personal genetic score, Athletigen’s real product might be the community itself.