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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.

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

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.

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