You may have seen personal genomics in the news recently. This term refers to companies like Pathway Genomics, 23andme, and Navigenics which will do DNA testing for you. They sell you a kit which contains a testtube which you spit into. You mail that off to the company and they run it through a DNA microarray. One of these chips can identify roughly 1/2 a million SNPs. That’s an awful lot of information and the chips are starting to get pretty cheap.
These companies have been started to give people direct access to this data for a fairly low price. This has freaked some people out. Congress is now investigating these companies, the FDA has gone after Pathway, and some state governments are getting in the act too.
Well, we thought that access to this sort of data sounded pretty interesting, so we all spit into testtubes and sent them off to 23andme. The data is now starting to come back, and it is pretty cool.
There’s an awful lot of information here, and we’ve just started figuring it all out. The simplest bit are the paternal & maternal haplogroups. Most of your genes are kind of a scrambled mixture of your father’s and your mother’s. But the Y chromosome gets handed down from father to son with almost no changes. In the same way, mitochondrial DNA gets handed down from a mother to her children with almost no changes. This means that you have 2 sets of genes (well 1 if you’re female) which you can trace into the distant past. For example, all of the boys in our family belong to a paternal haplogroup named R1b1b2a1a2f2. That’s not surprising because it is pretty common in the part of Ireland that my father’s family came from. It’s known as the Niall of the Nine Hostages group. 23andme generated this nice heatmap which shows how common this haplogroup is in different parts of the world.
In the same way, Chris and the kids belong to the U5a1b1 haplogroup on the maternal side. That’s actually a very ancient line (50,000 years or more), so it’s pretty spread out geographically. My understanding is that mitochondrial DNA changes pretty slowly because your mitochondria are so important and so finely tuned. On the other hand, the Y chromosome changes fairly quickly because it only contains instructions for making males, and we aren’t really that important, are we?
At 23andme’s website, you can also drill in and get even more detailed views like this one.
One of the interesting parts of what 23andme is doing is that they have incorporated a lot of ideas from social networking sites. You can compare your DNA to other people’s. For example, here’s a map of the differences between Tom’s & Peter’s.
In addition to all of that, there’s all sorts of information about things like disease risk, carrier status, and drug response. Those are the things that have been freaking out Congress. There’s a lot of really interesting information in this section, but I can understand why they’re concerned about people getting this kind of data without having enough background information really understand what it means. It does seem like fighting against the spread of this information isn’t really a winning strategy though. The chips are getting very inexpensive, and people are interested in the data. I think that politicians need to focus on the education side of the equation instead of trying to simply stem the tide.
23andme’s servers haven’t finished crunching all of our data, but there’s already lots of interesting stuff here. We’ll do another post once more data comes in.