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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Meet the evangelical Christian persuading believers that climate change is real

Katharine Hayhoe's Canadian missionary parents told her science and God were compatible. Then she moved to Texas. 

During Donald Trump’s presidential campaign, alarm rose with each mention of climate change. Denial, dismissal and repeated chants of “hoax” left no doubt as to his position.

Now President Trump’s withdrawal from the Paris Agreement has been seen as a seminal moment in the fight against climate change - one which many fear could lose the battle ahead of humanity.

But one scientist has been fighting a war of her own on the ground, against those who typically doubt the facts about global warming more than most - the evangelical Christian population of America.

And to make matters even more unusual, Katharine Hayhoe herself is an evangelical Christian who lives in the indisputably "bible belt" of Lubbock, Texas.

The atmospheric scientist has been named one of Time magazine's 100 most influential people and one of Politico’s 50 thinkers transforming American politics. Now she is using her considerable heft to speak to those who are hardest to convince that there is a manmade problem that threatens the Earth’s future.

I meet her at the science and music festival Starmus in Trondheim, Norway, where she is to address the attendees on Thursday in a talk entitled "Climate Change: Facts and Fictions".

Hayhoe was born in Canada, to missionary parents. Her father, a former science educator, showed her that there was no conflict between the ideas of God and science. However, it was something of a surprise to her when she discovered her pastor husband, whom she married in 2000, did not feel the same about climate change. It took her two years to convince him.

What started as a conversation became an organised project when she moved to America's South in the mid 2000s. 

“Moving to Lubbock was a culture shock," she tells me. "When I moved there I wasn’t doing much outreach, but it moved me in that direction.

“Lubbock is very conservative. It’s small and isolated.

“I would say the majority of people in Lubbock are either dismissive or doubtful about climate change. I was surrounded by people - neighbours, parents of friends, people at church, colleagues down the hall in the university - who weren’t convinced.”

So Hayhoe, who works as an associate professor and director of the Climate Science Centre at Texas Tech University, set to work. She began to collect the responses she was seeing to the climate change discussion and prepare her counter-argument.

“When I talk to people who are doubtful, I try to connect with the values they already have," she says. “The greatest myth is the myth of complacency - that ‘it doesn’t really matter to me’.

"But I would say that the second most insidious myth is that you only care about this issue if you’re a certain type of person. If you’re a green person, or a liberal person, or a granola person."

The stereotypes mean that people outside that demographic feel "I can't be that kind of person because that's not who I am", as she puts it.

Hayhoe convinced her husband using data, but rather than repeating a formula, she tries to find out what will resonate with different people: "For many groups, faith is a core value that people share.”

Whether she’s speaking to city planners, water company managers, school kids or Bible believers, Hayhoe says her hook is not the facts, but the feelings.

“I recently talked to arborists," she says. "For them, trees and plants are important, so I connect with them on that, and say ‘because we care about trees, or because we care about water or what the Bible says then let me share with you from the heart why I can about these issues because it affects something that you already care about’.

“My angle is to show people that they don’t need to be a different person at all - exactly who they already are is the kind of person who can care about climate change.”

Hayhoe came to public attention in the United States after appearing in a Showtime series on climate change. She has appeared on panels with Barack Obama and Leonardo DiCaprio, and launched a web series. As well as plaudits, this level of fame has also earned her daily threats and online abuse. 

“My critics think they’re coming from a position of religion, but they aren’t," she says. "They’re actually coming from a very specific political ideology which believes that the government should not have control over people’s lives in any way shape or form - very libertarian, free market, free economy, Tea Party."

She believes that in the United States, faith and politics has been conflated to the point "people can no longer tell the difference". 

“Now it’s conservatism that informs religion," she elaborates. "If the two are in conflict - like the Bible says God has given us responsibility over everything on this earth - then people say ‘oh, we can’t affect something as big as this Earth, God will take care of it anyway’."

Around half of those who attack her on social media identify themselves as Christians, she notes, but almost all call themselves conservatives. 

As a scientist, she’s been preparing data herself - naturally - on her online attackers, with depressingly familiar results.

“As soon as you stick your head out of the trench, you get it. There have been papers published showing that white men disproportionately form up that small group of dismissives. They’re almost all men. When I track my social media comments, I would say that 99.5 per cent of them are white men.

“Out of 1,000 negative comments, I have maybe five from women.”

After the climate change argument moved up a gear - following the Paris withdrawal - Hayhoe admits that she and her fellow scientists are concerned, although she pays tribute to the businesses, cities and states from the US that have committed to following the Paris agreement themselves.

On the subject of the chief white male denier, Trump himself, Hayhoe says she has a discussion point which she feels may convince him to think carefully about his role in the fight against global warming’s impact on humanity.

“I would attempt to connect with the values that he has and show him how acting on this would be in his best interests," she says.

“One guess would be ‘what do you want your legacy to be? What do you want to be known as, the man who destroyed the world, or the man who saved it?’”

Katharine Hayhoe is speaking at Starmus on Thursday June 22. For more details, visit Starmus.

Kirstie McCrum is a freelance journalist. Follow her @kirstiemccrum.

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