Home genome testing is coming, and regulators need to make sure they're ready

The FDA doesn't want 23andMe to offer health advice with its DNA testing kits, but this is surely just the first test for regulators as the home genome industry emerges.

At a recent family gathering I was surrounded by aunts. They were keen to show me an inheritance I was previously unaware of - “Viking hands” (or Dupuytren’s contracture, to give it its proper name).

It’s a hand disorder. My aunts all had trouble extending their ring fingers, as Dupuytren’s causes the tendon in the finger to tighten over time. It’s not seriously debilitating in any way, but it is annoying, and my dad and his five siblings all have it to varying degrees. I’m not really sure how I'd never heard of any of my relatives mention it before, but the proof was there, wiggling in front of me.

It’s known as “Viking hands” because Scandinavians and northern Europeans get it most of all. Being blonde-haired, blue-eyed, and slightly red of beard, I’m pretty sure I’ve got some Scandinavian in me. I’m quite looking forward to finding out if that's true.

23andMe is a genetics testing company that has made headlines for offering SNP genotype sequencing for $99 a pop. Those genotypes make up 0.1 percent of the total human genome, but they carry a huge amount of data - importantly, both a breakdown of your ethnic ancestry (including how much of your genome is Neanderthal), and whether you're susceptible to up to 254 known health issues (so far), from Parkinson’s to high chlolesterol. All that, from spitting into a tube and posting it to California.

The company was founded in 2006 by Anne Wojcicki, a biologist by education and biotech entrepreneur and investor by profession, and it has quietly set about trying to revolutionise (or “disrupt”, in Silicon Valley jargon) the field of human genetics. For the full backstory, it’s probably best to read Elizabeth Murphy’s in-depth profile from October's Fast Company. Here’s a snippet:

Wojcicki is connected to the fabric of Silicon Valley, which has served her well. But her goals are global. "We're not just looking to get a venture-capital return," Wojcicki says. "We set out with this company to revolutionize health care." On the same December day when she closed a $59 million round of financing, she dropped the price of 23andMe's genetic testing from $299 to $99. While prices like that may not make taking control of one's health a universal, democratic reality, they accelerate our society's move in that direction. The end result could be a wholesale shift in the way we treat illness, a move away from our current diagnostic model to one based on prevention. That's why, if Wojcicki gets it right, 23andMe could help change the health care industry as we know it. "At $99, we are opening the doors of access," she says. "Genetics is part of an entire path for how you're going to live a healthier life."

As 23andMe scales, its business model will shift. Right now it gets most of its revenue from the $99 that people like me pay in return for test-tube kits and the results we get back after we send off our spit-filled tubes. "The long game here is not to make money selling kits, although the kits are essential to get the base level data," says Patrick Chung, a 23andMe board member and partner at the venture-capital firm NEA. "Once you have the data, [the company] does actually become the Google of personalized health care." Genetic data on a massive scale is likely to be an extremely valuable commodity to pharmaceutical companies, hospitals, and even governments. This is where the real growth potential is.

As of September this year, 23andMe had managed to sign up 400,000 customers. The target is 25 million. That’s the kind of data pool that universities or pharmaceutical companies dream of, and which is big enough for scientists to start subjecting to big data analysis - that's the kind of analysis where immensely large data sets are run through algorithms that look for correlations that are too large or complex for a human to see alone. When it comes to certain diseases, or even those people who manage to live to ages beyond 100, being able to compare so many genetic datasets can be an immense help. The cost to a university or pharmaceutical company of building that same amount of data, of securing that much material voluntarily, is immense.

In practice, it’s proving more complicated. 23andMe has stopped giving health advice with its kits, in response to a letter from the US Food and Drug Agency. It’s bizarre, but it looks like the company - which had gone to great lengths to try and satisfy the regulator and establish itself as legitimate and trustworthy - has brought the crackdown on itself.

To avoid getting blocked from selling its kits by the FDA, 23andMe had resisted going all in on pushing its health services, instead emphasising the fun of discovering your genetic ancestry. Until, that is, about six months ago, which is when the FDA says it last heard from 23andMe regarding complying with its regulatory investigation. That letter, sent on 22 November, is fascinating to read - it's legalese, but it's angry legalese.

At the same time as 23andMe was ignoring the FDA, it began pushing health results more heavily in its ads and on its websites. It seems stupidly - or even wilfully - careless, and led Forbes science and medicine reporter Matthew Herper to write: “Either 23andMe is deliberately trying to force a battle with the FDA, which I think would potentially win points for the movement the company represents but kill the company itself, or it is simply guilty of the single dumbest regulatory strategy I have seen in 13 years of covering the Food and Drug Administration.”

When I saw the FDA’s letter, I ordered a 23andMe kit, worried I wouldn’t be able to get one for much longer - and, indeed, when you go to 23andMe’s site now there’s a message saying that, in line with the FDA’s warning, it won’t interpret health data for me as I ordered my kit after that letter arrived. Part of me wondered if living outside the US would mean I got through on a loophole, but alas, no. So, I sit and wait for the raw data to be given to me, uninterpreted by 23andMe.

The FDA is right to be angry that 23andMe doesn't appear to be taking the regulatory process seriously, though. There are cases of 23andMe interpreting results in misleading ways, and geneticists have been worried that people may not realise that the results it provides only give a part of the picture. There is also good reason to be sceptical of any company that wants to suck up genetic information and monetise it just as thoroughly as Google has done with digital information.

Yet, I ordered a kit. Why? Because I couldn't resist even the slight glimpse of me that it offers. There are a range of tools that I can use to dig into the raw results I should receive sometime in January, and I have no qualms about that. I doubt I'll be able to take my genotypes and correlate them with those that some studies (like this one from 2011) have linked with Dupuytren's, but I know I'm not the only person with this kind of self-investigative urge.

It's the same thing that drives the genealogical research industry, and sites like ancestry.co.uk. It's safe to predict that home genome testing companies are going to become a common thing, and we have to hope that regulators and the healthcare industry are going to be able to get a grip on them - both in terms of preventing people from making mistakes with their health based on misleading information, and in terms of offering support and guidance to customers who worry they may have uncovered something frightening inside their genes.


Now listen to Ian discussing this article on the NS podcast:

A 23andMe testing kit. (Photo: Pelle Sten/Flickr)

Ian Steadman is a staff science and technology writer at the New Statesman. He is on Twitter as @iansteadman.

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Brain training: exposing the myth behind cognitive-enhancement games

A new study indicates that any benefits gained from brain games may be down to the placebo effect.

If you’ve ever searched for a quick-fix to mental lethargy, it’s likely that you’ve browsed through your smartphone app store to take a look at the latest offerings of brain-training games.

I certainly have. These games have been designed to sharpen people’s mental acuity, while offering “scientifically proven” means for improving IQs; through a variety of mini-games and careful documentation of improvements to intelligence parameters, people would wield the tools needed to craft the desired, smarter minds that the apps promise.

And the market for them has showed no sign of slowing down. In the space of a few years, the demand for the apps has made the industry a billion-dollar one, with growth expected to continue. A couple of the most popular apps have included Lumosity, a web-based program boasting more than 50m users seeking to “improve memory, attention, flexibility, speed of processing and problem solving”, and mobile-based Peak, whose similar goals and striking visuals entice potential users.

Though the apps have had huge amounts of success, there is a new body of research emerging to suggest that the successes may not be as a result of the games themselves, but because of the placebo effect.

The placebo effect is a phenomenon in which a dummy treatment or process can cause significant changes in a person – simply because that person believes the placebo (posing as a real treatment) will help them. With medication, it can be the mere presentation of a sugar pill disguised as a medicine which can cause a patient to get better. And in the case of apps and games, it seems that anything which promises users cognitive benefit, is more likely to do so.

In a study entitled “Placebo effects in cognitive training” published on Monday in the journal Proceedings of the National Academy of Sciences, researchers found that participants who engaged in brain-training games for a single, one hour session showed improvements in IQ by up to ten points, but only if they believed the games would benefit them.

The group of cognitive scientists from George Mason University, Virginia, set up the experiment in a particular way to determine whether or not the placebo effect was involved.

50 participants were recruited, after two different posters asking people to sign up to a study were plastered around campus: one labelled “brain training & cognitive enhancement” and the other “email today & participate in a study”. The rewards for the former promised boosts in intelligence, while rewards for the latter granted study credits. Unknown to participants, however, was that both tests were the same, meaning any resulting changes to IQ were as a result of what participants were telling themselves about the tests.

The tests centred around the engagement of working memory and other factors to impact fluid intelligence – a type of intelligence which revolves around the application of logic and reason, independent of acquired knowledge. Those who chose to sign up to the “brain training & cognitive enhancement” study, aka the placebo study, were the ones to show remarkable gains in IQ after completing a post-brain games IQ test; gains of five to ten IQ points being made. Those who signed up for the control showed no signs of improvement.

Speaking to the Huffington Post, researcher and co-author of the study Cyrus Foroughi said: “Placebos are very pervasive and they have to be controlled for in a tremendous number of fields. This field is no different. So we put together the study to actually test whether expectation for a positive effect can lead to a positive outcome.”

Within the scientific community, frustration had already mounted as a result of the falsely promoted uses of brain games, particularly as tools to reverse age-related, cognitive-faltering illnesses such as Alzheimer’s disease. Overstated claims through advertising were enough to encourage scientists to sign an open letter in 2014, condemning the inaccurately purported benefits of brain training games. Earlier this year, Lumosity was fined $2m by the Federal Trade Commission for deceiving consumers with “unfounded claims”.

The recent findings strengthen this position, as the effects of cognitive training games seem less to do with the content of the games themselves, and more to do with what users tell themselves will happen after a session of, brain-training puzzle bonanzas. That’s not to say the games themselves don’t offer some benefit – it’s just that further clarification is needed to understand what they exactly contribute to, with the placebo effect factored in.

While scientists expand on their research to pinpoint the real effects of brain games, it seems for now that the best options to keep our brains active are the ones we are most familiar with: learn a language, do some exercise, or maybe just read a book.