What is 23andMe?
23andMe is a company that offers genetic testing direct to consumers through the magic of posting your spit in a tube. It was founded by Linda Avey, Paul Cusenza, and Anne Wojcicki (former wife of Google Co-Founder Sergey Brin) and received quite substantial investment from Google in its early days. Ignoring the ethical minefield of the rights and wrongs of direct-to-consumer testing and the associated potential privacy issues (for now) we are going to explore the testing process and some of the science behind the service. I will be drawing on personal experience here having recently completed the testing process.
What can 23andMe actually tell me?
23andMe currently breaks down your results into a ‘Health Overview’ and an ‘Ancestry Overview’. In addition to these results there are also a few tools that enable you to compare your DNA with that of other family members and also identify DNA relatives.
The Health Overview further breaks down results into 4 categories, genetic risk factors, inherited conditions, traits, and drug responses. They define each of these categories as follows:
1) Genetic Risk Factors: These reports show your results for specific genetic variants that are associated with a higher risk for developing certain health conditions.
2) Inherited Conditions: These reports show your results for specific genetic variants that can cause certain health conditions.
3) Traits: Some of our physical attributes are completely determined by genetics while others are influenced by many genetic as well as non-genetic factors. This section includes easily detectable phenotypes like eye colour, and also more subtle traits such as when you get your first tooth.
4) Drug Responses: This section displays your status with regard to genetic variations that have been linked to differences in how people respond to drugs. These may be differences in sensitivity or in the likelihood or severity of side effects.
They currently report on 11 genetic risk factors, 43 inherited conditions, 41 traits, and 12 drug responses.
The Ancestry tools provided on the website give you an ‘Ancestry Composition’, your maternal haplotype, paternal haplotype (if you are male), and your percentage Neanderthal DNA.
If you have family members that have also been tested with 23andMe you can also get a graphical representation of what sections of DNA you share with them (e.g. if your parents are tested you will be able to see which chromosome sections you inherited from each of them).
If you want to you can also find out whether you have any ‘DNA relatives’. This will show you a list of all the people who have been tested with 23andMe with whom you share sections of DNA.
Some of the results 23andMe give you should be taken far more seriously than others (both in terms of their implications and their scientific validity). Reporting is one of the trickiest areas in direct-to-consumer tests and it is the area of the process that I too most issue with (I am going to discuss this in detail in a separate post looking at my own 23andMe results).
How much does it cost?
The original cost of testing (in 2007) was $999. Since then tech has advanced and prices have dropped dramatically. In the UK 23andMe testing currently costs £125 all in. This includes the spit tube etc. and postage required for sending your sample to the lab. They do occasionally have offers on where the price is reduced – I purchased my kit in a holiday offer before x-mas for £99. You will also get a discount if you purchase additional kits and they offer £20 Amazon vouchers in return for referring friends and family. Even with current comparatively cheap tech and lab consumable prices I think £125 is a pretty impressive price to be able to offer the tests at (even if it does only cost $99 in the US).
How do they get my DNA?
In short you spit in a tube and post it to them. 23andMe will send you a ‘saliva collection kit’ which (after registering your kit number on your online account) you will obligingly proceed to fill with your (hopefully) DNA-rich glandular produce. It is actually not the saliva itself that contains DNA, but the white blood cells and the cells that are shed from the inside of your cheeks. The kit recommends that you don’t eat or drink for 30 minutes prior to producing your saliva sample in order to ensure your precious freshly-sloughed cells aren’t washed away. After you have filled the tube to the pre-marked line with your saliva you then remove the funnel and screw on the lid. As you screw on the lid the film on the underside will be perforated, which releases a preservative solution into the tube. The preservative solution is just a storage buffer that is used to burst the cells (to release the DNA) and stop bacteria from growing in your sample. Once your saliva sample is safely in the sealed tube and mixed with the preservative it is stable and can be shipped and stored at room temperature without degradation. You then slip the tube back in the box it came in, seal it, attach the label provided, and pop it in a post box – simple!
How long does it take?
If you order a test kit from them online it will usually only take 2 or 3 days to arrive, I think you can even pay a bit extra for next day delivery. The quoted processing time is 6-8 weeks after receiving your sample. In my case it took almost exactly 6 weeks but from what I have read on forums etc it varies with some people receiving results far quicker than that.
There are 6 ‘stages’ that your sample will go through before you receive your results and you can track your stages through your 23andMe account. The time for each stage to complete seems to vary a lot for different people and it can get a bit frustrating when you are stuck for a week on what you assumed would be a quick stage. If you visit the 23andMe forums or the reddit page you might be able to find other people in the same processing batch as you which can give you an idea of when you can expect to progress to the next step, but these threads seem more common for customers in the US.
How will I get my results?
All results are distributed online and accessed via your private account on their website. You will get emails giving you progress updates and informing you when your results are ready, but no results will be distributed by email.
Where can I get a 23andMe kit?
In the UK you can currently buy a 23andMe testing kit directly from their website, or from the high street pharmacy Superdrug. Wherever you buy the kit the rest of the process will be exactly the same and you will still have to post it to the lab.