23 and Me

This is the century in which personal DNA sequencing became affordable. And so it was unavoidable that curiosity would finally have me sign up at 23andMe, spit in a plastic tube, and see what's in my genes. Primarily, I just wanted to know how it works. So here's how it works for those of you who share my curiosity and are thinking of having a look at their genetic information too.

How does it work?

First thing you do is order a spit kit. It contains a plastic tube with some preservative and exact instructions how to send it back to the lab. 23andMe is located in California. They ship outside the US, but not to all countries; you can find a full list here. Cost for the spit kit is presently at US$ 99. To this you have to add the shipping and customs cost for a "human sample" which comes at US$ 79,95.

I ordered the spit kit on January 4th. It was shipped January 10th and arrived in Germany within a few days. They ask for quite some amount of saliva, so it's not really done with "just spitting." It took me half an hour or so to fill the tube up to the mark.

There's a number on the spit kit that you have to register on the website. For this you have to set up an account if you haven't already done that anyway. Then close the tube and seal it into a plastic bag with a biohazard logo which goes into a padded envelope. The spit kit comes with customs forms that have to be filled in. (If you live in the US, the procedure is easier). To send it back  to the lab, you have to drop off the envelope at a DHL Express station. So if you think of doing this, you might want to check where you find the closest one to your place.

On January 18, I received an email saying the sample arrived in the lab.  They tell you the analysis takes on average 6 weeks. On March 4th, after exactly two months, I got the results. It should be said that that they don't actually sequence the whole DNA. They look for about a million SNPs that are known or suspected to be interesting for one or the other reason.

What do you get?

First thing you see when you log in to view your results is the question whether you want to opt out of receiving health information. If you do, you only get information about your genetic ancestry.

Once logged in, you can browse the raw data if you like, this will give you a long list with names of SNPs, their position, and your genotype. For the average user like me, who doesn't know a terrible lot about genetics, this isn't very useful though. What's more useful is the summary you get that tells you what's known about your genotypes, what this means, and how reliable this information is.

In the "Health" menu, you have the categories "Disease Risk," "Carrier Status," "Drug Response" and "Traits." Disease risk and drug responce is self-explanatory. Carrier status tells you if you carry any known mutations responsible for heritable genetic diseases (which you might not necessarily get yourself but just pass on to your kids). Disease risks come in percentage of likelihood to develop some disease, and they tell you whether your risk is higher or lower than average. In addition the results are labelled by stars telling you roughly how reliable the conclusion from existing research is. Drug response gives you a list of drugs you are likely to respond to more or less than average, which is valuable medical information.

The first three categories in the "Health" menu contain more details than I'm comfortable sharing publicly, so let me instead show you a screenshot of the "Traits" list, which you could summarize as fun facts

Blue eyes, curly hair, and, no, I don't use deodorant. I've always assumed the rest of the world is just somewhat weird when it comes to their arm pits.

Now let's look at the ancestry, which you see in the screenshot in the left menu. The "relative finder" isn't working yet, it says they're still processing my data. For all I know I haven't lost any relatives, so I'm not expecting to find many. The ancestry composition tells you where your genes came from 50 years ago, it looks like this:

So, I'm European, but then you already knew that. From what I know of my family, I'd have expected more East European and less North European though; I'm somewhat surprised about this. Who knows what my ancestors have been up to.

And then you can trace your maternal and paternal line. The maternal line comes down through mitochondrial DNA which is exclusively inherited from the mother. Allegedly, if you look back long enough, we all go back to the same woman, referred to as Mitochondrial Eve. But there have been a few mutations since and the line has split, which allows some localization. 23andMe lists your haplogroup and shows its estimated distribution about 500 years ago:

Again, it looks more nordic than I'd have expected.

The paternal line is traced via the Y-chromosome. So I'll have to convince a male relative to spit for this information. I think I know what my younger brother will get as a birthday present ;o)

The website

The website is very functional, readable, and works well. What I appreciate very much is that they don't just give you a likely correlation between your genotype and some trait, but, if you click on an item, you get a list of scientific papers and a short summary of the research status. So you don't have to believe what they tell you but can make up your own mind.

You can also, if you find the time, fill out some dozens of surveys that they use to find cross-correlations between what you report and your genetic information. The participation is entirely voluntary. They've found some links in this way, eg the "curly hair" SNP that you see in the first image (the one that appears with the 23andMe logo) is such a case. So you can actively contribute to research in the area, which I find a nice twist.

Taken together I'd say it's worth the money. I had previously toyed with the idea to sign up with 23and Me, but before January 2013 you had to get a subscription for the webpage in addition to the cost for the sequencing and the shipment.

It is btw entirely coincidental that my favicon looks pretty much like the 23andMe logo. I've used this icon since 1997 I believe, it's supposed to be a mixture of an x and a lightcone.