Under the skin

The study of genetics is changing how athletes train, how coaches spot talent, and how cheats break the rules. But can a swab really identify future Tour winners?

Pro riders train longer, harder and smarter than the rest of us, but no amount of targeted training is going to see Peter Sagan win the polka dot jersey of King of the Mountains at the Tour de France, nor will Nairo Quintana ever know what it feels like to wear the green sprinter’s jersey.

Their skills as cyclists may be honed by training, but their areas of excellence are down to genetics. Sagan was born to sprint, Quintana to climb.

‘Genetic providence creates opportunities to become an elite athlete and contributes as much as 90% of how good you can be,’ says Ken Matheson, one of the UK’s most respected and longest-serving cycling coaches. ‘I’ve been to many inspirational talks by people espousing how if you work hard enough, you can achieve your dreams. But they’re not right – you can’t be whatever you want to be.’

Respond or not

For years, coaches and athletes were mystified as to why some individuals could, say, crush a 10-mile time-trial in under 20 minutes, while others following the same training plan and with near-identical experience were significantly slower. Until the early 2000s, that is, when science began to explain why some of us are genetically advantaged.

One US study placed 742 sedentary people on a 20-week exercise programme and measured factors such as the ability to process oxygen and resting pulse rate. The study, led by Dr Claude Bouchard, revealed that 10-15% of participants simply didn’t respond to exercise, while others showed a 40% improvement in how efficiently their muscles could use oxygen.

It led to the monikers ‘non-responder’ and ‘responder’, genetically generic descriptions of how you react to exercise. The anecdotal evidence oft seen by coaches and spectators alike began to receive scientific credibility.

‘Chris Boardman was one of the biggest responders to training I’ve ever seen,’ says Matheson, who used to coach the ex-Olympian. ‘But the genetic moment that really stands out is from a training camp with Yvonne McGregor [who won Britain’s first-ever women’s Olympic cycling medal back in 2000 at the age of 39]. She’d had umpteen weeks off training with a bad back but insisted on coming on the camp. I asked the women to hit this long climb and began to get increasingly annoyed that the pack was being stretched. I drove to the front and thought, “I’m gonna give someone a bollocking here.” Well, it was Yvonne, smiling away, pedalling nicely without a care in the world. I said, “After all this time off, why are you going so hard?” She said she wasn’t. She just had crazy genes.’

Not all genetic gifts are to do with strength and endurance however. It’s common knowledge that Mark Cavendish’s performance scores were so unimpressive that, as a youngster, he was nearly kicked off the GB academy. Dean Downing, 38, a GB stalwart who’s achieved numerous domestic and international honours, is another rider who achieved success despite genetically sub-standard physical test scores.

‘I coached Dean and he recorded shocking figures,’ Matheson states diplomatically. ‘I have them here. November 1994. Maximal aerobic power output 351 watts. Maximum heart rate 180bpm. For a 19-year-old they were very low.’

Dean’s brother, Russell, also recorded similarly low levels in various tests, yet both the Downings went on to forge long careers as full-time cyclists.

‘We’re both pretty good at sprinting and are tactically very astute,’ says Dean, ‘but we’ve always had this huge competitive instinct.’ Genetic expression isn’t uniquely physically related – clearly genetics impart other characteristics including personality, which implies that the Downings’ amplified competitive instinct more than compensates for any apparent physical shortcomings.

Dean says his father and grandfather were both highly competitive cyclists, so you could surmise a fiery will to win has rubbed off environmentally on the boys from an early age. But Dean remembers being uber-competitive from almost the moment he was born, suggesting this trait has been genetically passed down the Downing family tree.

Genetics2

ACE result

It begs the question, are there certain genes identified by men in white coats that play a greater role than others in cycling excellence? ‘ACE has been the one that’s received the greatest media attention,’ says Ian Craig, sports nutritionist and exercise physiologist. ‘It stands for angiotensin-converting enzyme and is involved in blood pressure control and, subsequently, power and endurance.’

Craig is a man who knows his genes, so much so that a laboratory in Johannesburg brought him in as a consultant a couple of years ago to develop a product called DNA Fit.

‘Essentially a rider rubs an oversized cotton bud on their inner cheek for 20 seconds,’ he says. ‘This is sent to the lab for DNA extraction. We can then test for genetic expressions of genes related to different performance factors such as injury risk, speed of recovery, power and endurance.’ Examples of sporting genes the lab tests for include ACTN3, which is associated with power; PPARA, regulation of fat; NRF2, respiratory capacity; and VEGF, blood vessel growth.

‘We’ve tested many professional sportsmen,’ Craig reveals, ‘including a high-profile Tour de France team.’ Issues of confidentiality leave you guessing as to which one, but Craig does elaborate on the results. ‘We tested 10 riders and what you’d expect is heavy endurance capabilities. And that’s particularly true of domestiques, which showed up in their gene profiles. That wasn’t true of the time-triallists, climbers and sprinters whose gene profile was skewed more toward power.’

You can begin to see where this genetic-led (or at least swayed) training can lead. There’s no point flogging someone who’s predisposed to sprinting, for instance, on regular long and slow six-hour training rides. Instead, maximise their power potential by integrating more interval training, track efforts and hill repeats. And it’s not just the pros who are getting in on the act. The service is there for keen amateurs who have to fit their training around busy lives, jobs, partners, nagging and so on.

South African Pieter Piertese is one such man. The 32-year-old has been riding for 25 years and completed myriad sportives and endurance biking conquests while holding down a job as a hydraulic salesman. Previously he followed an unstructured plan of around 10-16 hours per week, heavily comprised of long, slow rides. ‘That changed after the test,’ says Piertese. ‘The results showed I’m more likely to excel in power sports, so training intensity should be moderate to high. Having good power potential also meant I had room for endurance improvement – useful to know on stage races. It also revealed I’m genetically at risk of tendon injuries.’

High-intensity rides are now a staple of Piertese’s plan over a three-week building, one-week rest model. ‘That change alone has seen a massive improvement in my endurance and power.’

It’s clearly working for Piertese, but whether it’s more effective than a traditional method of prescribing training plans is unclear as it’s his first structured programme. And disappointingly perhaps, DNA Fit’s programmes are not as bespoke as you’d think. ‘We’ve 27 plans for each sport,’ says Craig. ‘They’re based on beginner, intermediate, advanced; then power, endurance or mixed priority; culminating in fast, intermediate or slow recovery.’

Limits of testing

Despite the extensive choice, this off-the-peg offering jars with the individualism of human DNA, opening up the service to criticism. One such detractor of sports gene testing is Professor Hugh Montgomery, director of human health and performance at University College London. ‘Currently there’s not a shred of evidence that genetic testing can guide training or diet,’ he says. ‘In my view, many of the companies selling such services are largely involved in quackery.’

Professor Steven Roth, who directs the functional genomic laboratory at the University of Maryland, USA, adds, ‘Think about what it takes to be an elite-level cyclist. You’ve got to have muscular strength, endurance, mental performance… nearly every system comes into play, which means there’s genetic variation from heart rate to muscle fibre type to VO2 max, so we’re talking about hundreds of genes that are likely to be contributing to something like cycling performance, not just a few.’

It’s an issue Craig recognises and he’s realistic about what DNA Fit’s test currently offers. ‘If you go to the doctor with low energy and they send you off for a blood test, they’re not going to rely 100% on that blood test. They’ll ask about you. It’s the same with our DNA tests.’

This is a fledgling field – it was only in 2003 that a complete human genome was mapped – and reputable practitioners like Craig are happy to note the current limitations, but the worrying fact is that regulation of genetic sports testing currently stands at zero. Anyone can set up an outfit, identify which genes they’ll market as performance enhancers based on minimal research and roll out a training model that they’ll sell as life-changing. It’s a thorny issue but not as controversial as employing genetic sports testing for talent identification.

Ethics of talent ID

Talent identification via genetic means is an ethical hornet’s nest. If you’re a pushy parent and you want to realise your dream of sporting stardom vicariously through your children, why wouldn’t you have your kids swabbed and tested to ascertain which sport your offspring will excel at?

But hang on. Your child loves playing football. This doesn’t sit well with the DNA results, which clearly state they have the endurance and power potential to become the next great cyclist. ‘Sorry, put that ball down, it’s time for your turbo session.’ You puncture their dreams of being the new Gareth Bale – and their football for good measure.

‘A child has no conception of what the consequence of this test will be,’ says Roth, who wrote a paper on the application of genetic testing in sport talent identification. ‘There are clearly issues of consent. Do they have the opportunity to choose a sport or will it be chosen for them? Will they be coerced into testing?’

It must be noted that Craig and DNA Fit hop over this ethical quagmire by offering the service to over-16s only. That stance isn’t adopted by all, with Roth citing ‘five or six testing outfits that subtly market to parents’. All of the experts Cyclist interviewed agreed that in addition to pushy-parent syndrome, there are just too many genetic variables to say 100% what sport an infant will shine at.

‘There’s a lot of anxiety around talent ID on the basis of genetics,’ says Andy Miah, professor of ethics and emerging technologies at the University of the West of Scotland. ‘Back in 2004, the first genetic sports test hit the market and caused considerable concern. This led to the Stockholm Declaration, which I was involved in drafting with WADA, which discouraged sports organisations from using them to identify talent.’

This ‘discouragement’ stemmed more from limited genetic insights than ethical concerns, with Miah highlighting that eight people out of 100 might display a gene associated with endurance, but 20 more might have endurance-related genes for which there are no tests. ‘Even now we don’t have enough studies to support claims about talent, but this is why we need more research, rather than retreat to anxiety about what the knowledge provides.’

So what will be the influence of genetics on cycling performance in the future? Will the 2050 Tour de France winner have been nurtured since matching the complete genetic make-up of Chris Froome while they were still in nappies? Will WADA cease to exist as genetic manipulation (more on genetic doping in the box on p68) makes identifying the cheats impossible?

The effect of genetics on performance is set to become an issue that could change the way we view sport. ‘The future’s not going away,’ says Roth. ‘At some point the science will solidify and, as a society, we’ll have to come to terms with what we do with this information. Where that leads us remains the big unknown.’

Needle or genetics?

Blood tests are used to detect EPO abuse, but for some a positive test can be down to genetics

In 1997 cycling’s governing body, the UCI, implemented blood testing to deter the alleged use of EPO. The test monitored the volume percentage of red blood cells in blood (known as haematocrit) and the UCI set the acceptable upper limit at 50%. UCI president Hein Verbruggen stressed the test acted as a health check and a positive test didn’t imply EPO use. ‘Riders would be suspended until their levels returned to an acceptable level,’ a UCI statement read.

Italian legend Marco Pantani’s career was peppered with such ‘high moments’. In 1999 Pantani was leading the Giro d’Italia with just one mountain stage remaining when a blood test showed a reading of 52%. Disqualification followed, as did a two-week break for levels to dip under 50%.

Riders like Pantani cast a suspicious shadow over any rider who is genetically blessed – or cursed – with a haematocrit level over the UCI limit. One such rider was Britain’s Charly Wegelius, now a directeur sportif at Garmin-Sharp.

‘When I was coaching Charly as a youngster, we had regular blood tests in case the riders fell ill and the doctors needed a baseline to test against,’ says coach Ken Matheson. ‘During that time the 50% [EPO] rule came in so I had a look at my riders. They were 46, 43… and then Charly came in at 52. He was only 16 years old at the time.’

Wegelius progressed through the ranks and was selected to race for GB. Matheson recalls contacting then team manager John Herety to inform him that, if he was tested, he could well be over that threshold. Not long after, Wegelius was pulled from the 2003 Tour of Lombardy. ‘I thought, “Shit – why wasn’t anything done?” I phoned Charly and he said it hadn’t been sorted.’

Thankfully, Matheson had ‘illegally’ retained all of his blood tests, providing the evidence needed to clear Wegelius of any wrongdoing. In the process of defending his athlete, Matheson’s team also tested Wegelius’s father in the hope of adding further weight to their genetic defence. He came in at 56.

Genetic doping

Can we (and should we) try to prevent performance enhancement through genetic manipulation?

Genetic doping involves manipulating specific genes for specific outcomes. For example, with the ACE gene you could manipulate it to express the power characteristics. At the end of 2012 several Costa Rican BCR Pizza Hut riders tested positive for GW1516, a synthetic substance that works on a muscle-building gene.

The subject has presented many ethical arguments, with none more thought-provoking than the views of Andy Miah, professor of ethics and emerging technologies at the University of the West of Scotland. ‘I think there’s a strong ethical argument to support genetic doping and to strongly protest its illegality. But first we have to overcome the concern that experimentation on healthy subjects is unethical.

‘Historically we’ve been anxious about using medical resources for anything other than repair or therapy. But that world is changing. We understand that prevention can be more effective than a cure, and to go down this route is to embrace human enhancement.

‘So many forms of therapy – like eye surgery – are taking us beyond normal and making us superhuman. This broader cultural shift in how we use biotechnology and other sciences is why the anti-doping industry will fall on its knees in due course. Quite simply, nobody will care about an athlete using a nasal decongestant when everybody’s biological system will be reinforced against illness and optimised for performance in what is an increasingly toxic world.’

Discuss…

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