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.

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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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Forget fake news on Facebook – the real filter bubble is you

If people want to receive all their news from a single feed that reinforces their beliefs, there is little that can be done.

It’s Google that vaunts the absurdly optimistic motto “Don’t be evil”, but there are others of Silicon Valley’s techno-nabobs who have equally high-flown moral agendas. Step forward, Mark Zuckerberg of Facebook, who responded this week to the brouhaha surrounding his social media platform’s influence on the US presidential election thus: “We are all blessed to have the ability to make the world better, and we have the responsibility to do it. Let’s go work even harder.”

To which the only possible response – if you’re me – is: “No we aren’t, no we don’t, and I’m going back to my flowery bed to cultivate my garden of inanition.” I mean, where does this guy get off? It’s estimated that a single message from Facebook caused about 340,000 extra voters to pitch up at the polls for the 2010 US congressional elections – while the tech giant actually performed an “experiment”: showing either positive or negative news stories to hundreds of thousands of their members, and so rendering them happier or sadder.

In the past, Facebook employees curating the site’s “trending news” section were apparently told to squash stories that right-wingers might “like”, but in the run-up to the US election the brakes came off and all sorts of fraudulent clickbait was fed to the denizens of the virtual underworld, much – but not all of it – generated by spurious alt-right “news sites”.

Why? Because Facebook doesn’t view itself as a conventional news provider and has no rubric for fact-checking its news content: it can take up to 13 hours for stories about Hillary Clinton eating babies barbecued for her by Barack Obama to be taken down – and in that time Christ knows how many people will have not only given them credence, but also liked or shared them, so passing on the contagion. The result has been something digital analysts describe as a “filter bubble”, a sort of virtual helmet that drops down over your head and ensures that you receive only the sort of news you’re already fit to be imprinted with. Back in the days when everyone read the print edition of the New York Times this sort of manipulation was, it is argued, quite impossible; after all, the US media historically made a fetish of fact-checking, an editorial process that is pretty much unknown in our own press. Why, I’ve published short stories in American magazines and newspapers and had fact-checkers call me up to confirm the veracity of my flights of fancy. No, really.

In psychology, the process by which any given individual colludes in the creation of a personalised “filter bubble” is known as confirmation bias: we’re more inclined to believe the sort of things that validate what we want to believe – and by extension, surely, these are likely to be the sorts of beliefs we want to share with others. It seems to me that the big social media sites, while perhaps blowing up more and bigger filter bubbles, can scarcely be blamed for the confirmation bias. Nor – as yet – have they wreaked the sort of destruction on the world that has burst from the filter bubble known as “Western civilisation” – one that was blown into being by the New York Times, the BBC and all sorts of highly respected media outlets over many decades.

Societies that are both dominant and in the ascendant always imagine their belief systems and the values they enshrine are the best ones. You have only to switch on the radio and hear our politicians blithering on about how they’re going to get both bloodthirsty sides in the Syrian Civil War to behave like pacifist vegetarians in order to see the confirmation bias hard at work.

The Western belief – which has its roots in imperialism, but has bodied forth in the form of liberal humanism – that all is for the best in the world best described by the New York Times’s fact-checkers, is also a sort of filter bubble, haloing almost all of us in its shiny and translucent truth.

Religion? Obviously a good-news feed that many billions of the credulous rely on entirely. Science? Possibly the biggest filter bubble there is in the universe, and one that – if you believe Stephen Hawking – has been inflating since shortly before the Big Bang. After all, any scientific theory is just that: a series of observable (and potentially repeatable) regularities, a bubble of consistency we wander around in, perfectly at ease despite its obvious vulnerability to those little pricks, the unforeseen and the contingent. Let’s face it, what lies behind most people’s beliefs is not facts, but prejudices, and all this carping about algorithms is really the howling of a liberal elite whose own filter bubble has indeed been popped.

A television producer I know once joked that she was considering pitching a reality show to the networks to be called Daily Mail Hate Island. The conceit was that a group of ordinary Britons would be marooned on a desert island where the only news they’d have of the outside world would come in the form of the Daily Mail; viewers would find themselves riveted by watching these benighted folk descend into the barbarism of bigotry as they absorbed ever more factitious twaddle. But as I pointed out to this media innovator, we’re already marooned on Daily Mail Hate Island: it’s called Britain.

If people want to receive all their news from a single feed that constantly and consistently reinforces their beliefs, what are you going to do about it? The current argument is that Facebook’s algorithms reinforce political polarisation, but does anyone really believe better editing on the site will return our troubled present to some prelap­sarian past, let alone carry us forward into a brave new factual future? No, we’re all condemned to collude in the inflation of our own filter bubbles unless we actively seek to challenge every piece of received information, theory, or opinion. And what an exhausting business that would be . . . without the internet.

Will Self is an author and journalist. His books include Umbrella, Shark, The Book of Dave and The Butt. He writes the Madness of Crowds and Real Meals columns for the New Statesman.

This article first appeared in the 24 November 2016 issue of the New Statesman, Blair: out of exile