Personal genome testing: The ultimate quantified self

Taking personal metrics to the next level with genealogical DNA home-kits
DNA testing: Ultimate quantified self

I'm 55.6% British and Irish, my earwax type is 'wet' and the outlaw Jesse James is a distant cousin on my mother's side. That's just a small snippet of the sort of data you'll get after forking out $199 for a 23andMe DNA kit. (This feature is based on the UK version of the test).

Actually, that's an example of a small snippet of data you'll get after forking out $199 for the kit, receiving it through the post, spitting in a tube, sending it back and waiting around 6-8 weeks for the result.

Next-gen DNA genotyping techniques were developed in the 1990s and the new millennium has seen a boom in commercialising the processes. The world of personal genomics is big business now – 23andMe is one of a plethora of private companies, offering a range of results based on an individual's genetic make-up. The new industry is thanks mainly to the staggering decrease in costs associated with genotyping a person's genome.

The National Human Genome Research Institute set a target to be able to sequence a human-sized genome for $100,000 by 2009. By the end of 2014 the cost was less than $1,000. Nowadays, as mentioned – $199 gets you a pretty comprehensive set of results through the post.

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It's the ultimate quantified-self set of numbers. Forget how many steps you average in a week, or what your resting heart rate is – DNA genotyping allows us to create the complete spec-sheet for our bodies.

"The information can affect the user's life in a pretty meaningful way," Erynn Gordon, medical marketing director of 23andMe told me. "One of the most meaningful pieces of information from what people get back is their results related to drug response."

In the UK, where I took the test (the US offering is different to the UK, and comes under different regulations) 12 drug response results are provided, along with detailed analysis on ancestry, traits, inherited conditions and genetic risk factors.

"If you are on one of the medications, you could see how you would respond – or not respond – to them and your risk of side effects," Gordon explained. "The reality is that people just don't know how they are responding, or are likely to respond.

"For example, there's a drug called Clopidogrel which is given to people after they've had one heart attack to prevent further attacks, or for people who have had blood clots to prevent future clots. But there's one particular result whereby people just won't respond to that drug. So you think you are protected by taking it but actually you are not. So if you're on that medication, and you get that result, you should absolutely talk to your health care provider about your genetics and what alternatives could work.

"You're not going to know if you're at risk of having another heart attack until you have another heart attack, but looking at the genetics really uncovers something that wouldn't otherwise be obvious.

Putting the results into practice

I actually take a medication that's one of the 12 mentioned in the 23andMe report. I have a hiatus hernia, which causes me mild symptoms such as acid reflux and sickness when left untreated. I was prescribed Lansoprazole by my doctor – a Proton pump inhibitor (PPI) that limits the production of stomach acid.

My initial dose proved ineffective and, as such, my doctor prescribed me a double dose, but mentioned that was quite uncommon. But, if I would have had my 23andMe results to hand when initially diagnosed, things could have been a lot more straight forward.

My report confirmed that I was, "likely an ultrarapid or rapid metabolizer" and that, "although the standard dose is usually effective, some people with this genotype may benefit from a different dose."

"For people that are ultrarapid metabolizers, their body just processes the drug much faster and, as a result, people often need a higher dose," Gordon explained. "Again, the results give you more information to talk to your health care provider about.

"If you know your result before you start taking medication, that might influence how your doctor approaches your dose. It's about approaching treatment proactively."

Planning for the future

As well as quantifying and qualifying your genetic make-up and responsiveness to certain drugs, 23andMe's consumer report also tackles conditions that may be showing in a user's genes.

"The section of the report on inherited conditions features conditions that you might not be necessarily likely to experience symptoms of yourself but you could have an increased risk of having an affected child, as you are a carrier – especially if your partner is also a carrier. So this is useful for reproductive planning," Gordon said.

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"Carrier screening in the UK is fairly limited and is usually based on family history, so this is some insight that you probably wouldn't receive through typical medical processes.

"In every country the approach to carrier screening is different but this allows you to learn a lot more about these disorders and your risk of being a carrier."

What's next

So while it's fun to see where your ancestors originated from and hook up with cousins across the globe who have also taken the test (and made themselves discoverable), it's clear that the health implications - both presently and when planning for the future - are the key components of 23andMe's product. They also point towards a much more quantified self future, where genome testing is a much bigger part of people's health and wellbeing.

"My crystal ball is a little bit foggy but, if I was to take an educated guess, in 10 to 15 years we'll be doing whole genome sequencing on anybody who wants it," stated Gordon. "It will be readily accessible but not forced on people.

"There is a lot of discussion debating, as we progress towards whole genome sequencing, what is the right point of life to do that. If it's done in the newborn period, you can go through life with a wallet of genetic information that can tapped and access at key points in your life as appropriate."

The kind of DNA results that 23andMe provides, while purely for consumer use at present, could potentially be combined with the wealth of data (which is becoming ever more sophisticated) collected from wearable tech sensors to give doctors a much wider and much more accurate, breakdown of a patient's health.

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Rather than a doctor asking you how many times a week you exercise, what medical conditions run in your family, and what allergies you have, he could potentially have a vast quantity of real-world, real-time information at his fingertips.

However, Gordon stressed that this improved data must be used responsibly. "The question of ethics is important," she said. "We need to use the information responsibility and appropriate regulations need to be put in place."

This is an area in which 23andMe itself needs to navigate carefully. In 2010 the company's reports were labelled as, "misleading and of little or no practical use" by the US Government Accountability Office. 23andMe, responded, saying, "the GAO refused to discuss its flawed report with us," and added that "we are confident in our service's accuracy, reliability and value."

Ultimately, the 23andMe kit is affordable enough if you're just curious and - though it is certainly not designed to replace doctors - could even one day be considered by a GP who is perhaps struggling to prescribe the right treatment for you, the individual, with wet earwax or otherwise.

1 Comment

  • Tenielle says:

    23 & Me are not FDA approved (please correct me if this has recently changed) or capable of giving you accurate and useful health risk information including, pharmacogenetic (What drugs to take, based on our genetics) and reproductive information. 

    Understanding and being aware of out genetics and its impact on our health is so important, but there are other ways to get this information in a safe and reliable way. 

    There is a reason 23 & Me only costs $199. 

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