23andMe: What happens when a hypochondriac takes an online DNA test

I’m a hypochondriac – about twice a month, I convince myself I have some obscure cancer – so 23andMe’s genetic testing appeals to my internal weaknesses. Spit in a tube, mail it away, and get a detailed report of everything that’s wrong with me – not, as it would turn out, cancer, but we’ll get to that.

First, a bit about the Google-backed 23andMe. For £125, the US-based genetics company promises to reveal inherited risk factors, genetic traits, and how your body may respond to certain drugs. Sign up, and it will send a small kit in the mail with instructions to follow: spit a few times in the plastic test tube, attach a lid containing a liquid, shake it all about, pop it back in the mail.

Several weeks later, an email lands with a link to your results, which include ancestry composition and genetic traits reports. No-one, including myself, cares that I am predisposed to “wet” earwax or am 69.5% Eastern European –  it’s the medical markers we’re shelling out £125 to see.

Those detailed, wordy medical reports are at the heart of regulatory concerns about 23andMe: the US Food and Drug Administration (FDA) shut down its medical testing in 2013. It was allowed to return last year, but with fewer than a sixth of the 240 medical markers it tested for at launch. It now focuses on genetic disorders you could pass on to your children rather than the diseases you might develop in your own life. The UK version has more medical results, including 11 markers for the latter, with notes on the bottom of the results saying they’re not approved by the FDA.

The concerns centre on whether such tests can be truly predictive for diseases you may develop in life, whether average individuals can understand them, whether such tests will lead to a high number of false positives (as they’d normally be run only by professionals following symptoms) and – particularly in the US, with its paid-for health care – whether genetic information could be used to discriminate.

Concerns around communicating the results are no surprise: the reports could reveal you’re at risk of serious disease or of passing down an illness to your children – potentially life-changing information.

With all that in mind, 23andMe did a “significant amount of user-comprehension testing” as part of its FDA clearance to market, Angela Wonson, 23andMe’s vice president of communications, told me. “The threshold of user testing has to show over 90% comprehension rates, and [this is] very thorough testing of individuals who are not customers,” she said, explaining the FDA requires the results to be understood by a wide audience, not just those interested in the product.

The thing is, I thought I understood my own results – but a chat with a geneticist showed I didn’t.

None of the cancer-related markers had red flags in my report, but one under “Genetic Risk Factors” was a frightening surprise: Alzheimer’s. While half my family has had cancer, no-one in my family, so far as we know, has ever been diagnosed with the terrifying disease. This gave me new fuel for my hypochondria – I stared forlornly at my PC for minutes trying not to panic, mentally making a checklist of dementia-preventing hobbies I’ll need to cultivate. (Anyone know how Sudoku works?)

To be fair, the report clearly states that the ε4 variant in question “does not necessarily mean you will develop Alzheimer’s” and that someone without the marker could still get the disease, repeatedly telling me to speak to a doctor or genetic counsellor if concerned. But I passed over that after reading that between 18% and 35% of people of European ancestry with that variant will get Alzheimer’s by 85. Panic hurts my reading comprehension, it would seem.

Alongside that, under the “Inherited Conditions” header, I have potential for cystic fibrosis – which I clearly don’t have, so no worries – and I’m “sensitive” to some drug called warfarin, but that’s hardly a concern as I’m not on said pharmaceutical.

Alas, I had my concerns in the wrong order, according to Professor Alex Blakemore at Brunel University London – and my own misunderstandings perfectly highlights the issues at the core of 23andMe’s regulatory problems. “It’s not clear to the consumer the difference between a statistical association such as the Alzheimer’s thing and carrying a deleterious mutation,” such as one that causes cystic fibrosis, she told me.

Don’t be concerned about the Alzheimer’s result, Blakemore advised. First, as the disease is currently untreatable, there’s currently nothing that can be done anyway – besides being generally healthy, of course – making it “one of the least useful pieces of information”.

Second, that result is a “statistical association”, the very type that the FDA isn’t keen on. Across the entire population in general, people with my particular gene type have a “somewhat increased risk” of developing the disease. “Not everyone with Alzheimer’s has that genotype, and not everyone with that genotype has Alzheimer’s,” she stressed.

My risk is three times that of a random person – higher than I’d like, but lower than the risk increase associated with some other genotypes. About a fifth of the population has the same risk factor as me, too. “It’s not a rare thing, and it’s not a particularly predictive thing,” she explained.

The cystic fibrosis risk, on the other hand, is a diagnosis I can do something about, Blakemore said. I clearly don’t have the disease myself, but I carry the damaged gene – not a rare thing, as one in 23 people with a European background do.

“It does mean that if you’re contemplating children, you should talk to your partner about whether they want to get tested,” Blakemore said. “Because you know you have it… if your partner also carries it, then in each pregnancy you’ll have a one in four chance of an affected child.”

The other surprisingly useful bit of information regards warfarin. Because of their genetic makeup, some people need a different dose of the anticoagulant drug, meaning multiple visits to hospital to get it right. Thanks to the 23andMe test, doctors would have a clearer idea of how I would react to the drug, making it much “quicker and easier to calibrate your dose,” said Blakemore. “So it’s useful information.”

None of this is necessarily negative, she stressed, as each of us carries hundreds of genetic mutations that could cause disease as well as specific traits. “Mutation just means a change in DNA sequence – it doesn’t mean anything bad in itself,” she said.

Let me stress this: all of the information that Blakemore highlighted to me is indeed in the 23andMe report, but I focused on the wrong bits – there’s simply so much information, and some of it seemingly so alarming. “The way that things are discussed and presented is of the utmost importance,” Blakemore added.

The 23andMe reports frequently direct users to speak to their doctor, but I so misunderstood mine that I wouldn’t have even asked the right questions of my GP – and he may well not have even known the answer. 

23andMe’s medical marketing director Erynn Gordon said that the company works with doctors to find out what questions they have and what patients are confused about. “We are on an ongoing basis surveying customers, but also healthcare providers. We want to understand, if our customers are going to their providers, what their questions are, and then we’re better able to make changes to proactively address those questions,” she said.  

23andMe also pointed out that third-party genetics counsellors will go through your results with you at an additional charge, linking directly from its reports to Informed DNA as well as a search tool to find local providers. It may well be worth the extra cost: looking back at the reports now, I see where 23andMe was making the points that Professor Blakemore corrected me on – there’s just so much information, I couldn’t sift out the most important bits.

All that said, regardless of communication challenges, Blakemore believes people have a right to know their genetics. “Personally, my feeling about whether these [tests] should be allowed or not is that I think it would be arrogant of the medical profession to say, ’only we are allowed to be custodians of this information’,” she said.

“It [genetics testing] raises issues which are difficult to address, there’s no doubt about that,” Blakemore added. “Some people would rather not address those issues, but other people would rather look them in the eye. And if you’re a person who likes to know, then you can take steps.”

And I agree. For what it’s worth, my hypochrondia continues unabated – many cancers aren’t genetic, after all, and not all are tested for by 23andMe. Should I ever have a child, at least I know to have my partner checked too.

That said, I would also call a genetic counsellor. Should you decide to peek inside your genetic makeup, watch the 23andMe videos explaining the results before you read them, read them carefully before jumping to any conclusions, and have the phone number of your GP or genetics counsellor to hand – and make use of it.

If I hadn’t taken that extra step, all of this remarkable medical science would have gone to waste, fuelling new hypochondriac fears rather than helping me avoid illness, in myself and imaginary future children.

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