This company bothers me immensely. They take your $1000 and a buccal swab, and run it against an 550K SNP chip (beadarray, actually). That's all. The data which is generated effectively tells you what base your cellular DNA has at points along the genome where humans are highly divergent (these points, SNPs for Single Nucleotide Polymorphisms, tend to be passed from generation to generation in blocks which are resistant to breaking up during recombination; therefore, they reveal a lot about a person's ancestry, and the combinations of blocks present can predict some types of disease risk). It sounds cool; I'm not so sure that it's the best place to spend $1000 at this point in time, but hey -- SHINEY!!1 People will probably do what they're told and burn some cash on it.

This is all well and good, I suppose. You have a service of fairly dubious utility being offered, to a bunch of people who likely overestimate its utility. In other words, it's just like any other service in that respect. Maybe less useful than most. (edited to remove erroneous Affy/Illumina references -- with that sort of an error, you better not regard any of the rest of this post as definitive either!)

What sucks, in my mind, about this situation is that the company doesn't seem to be driving any real innovation. Right now, you can have your genome run against a dense panel of SNP markers, and find out what it contains at swab time. That's non-exhaustive, but statistically it barely matters because if you have major new mutations in conserved genes, you're probably dead. Most such mutations are fatal. The ones that aren't continue to be passed around as time goes on. But there are a number of other influences on the way your body ages, gets diseases (or doesn't), passes diseases on (or doesn't), and so on, which we DO know about. First off is epigenetic influences such as whether some of the cytosine bases are decorated with methyl groups. If 23andMe has any intention of offering new scans as the methylation chips become more useful, they're not telling. It will be some time before the success of genome-wide association scans, such as the successful efforts to locate SNPs and SNP (haplotype) blocks which put a person and their offspring at high risk for Crohn's colitis, is wide-spread enough that the genetic information is useful to the average person. The epigenetic and environmental information carried in a person's cells, and the interaction effects of all 3? Could be decades in the most optimistic case. If you think brute-force computational power will solve that, let me know how your protein folding programs are doing. Brute force CPU power was supposed to solve that, too.

Meanwhile, companies like Helicos and Pacific Biosystems are producing technology to cheaply and completely resequence a genome using whole-genome amplification from small samples. They're getting smacked around by the bear market in biotech, but if they succeed, and it looks like they will, then instead of a panel of 1000K SNPs, you'd get ALL of the information in a snapshot of your genome. All 3 billion bases, maternal and paternally derived copies -- remember, you can have different maternal and paternal alleles -- which means all the repeats, microsatellites, and other bits that the SNP chips don't get. (There are plenty of other gotchas as well -- but this is getting really long and I'm not in a mood to edit)

About the use of the word ''snapshot'' -- it's because cellular DNA appears to change in response to cellular RNA manipulation. Tom Cech won the Nobel prize for showing that RNA by itself could store, manipulate, and transmit information at a cellular level. More and more, it's appearing that RNA is actually running the show even in the presence of DNA, and DNA is more like short-term storage for the transient instructions from the RNA. So the DNA, rather than being static, is not just getting methylated and wrapped into bundles, but literally changed on the fly. (If the preceding story is correct -- which no one seems to know)

So what they're assembling at 23andMe is a big tissue bank, a collection of mailed-in buccal swabs, and they're offering the (IMHO, dubious) service of guiding you through that information. There are some useful things you can learn from your genome even now. If you and your spouse have certain mutations -- say, you're both carriers for Tay-Sachs -- then you know right off the bat that 25% of your children are likely to have the disease. If you have certain variations in, for example, TCF7L2 (see http://www.nature.com/nature/journal/v445/n7130/full/nature0...) your risk of type II diabetes is increased (though this is not nearly as conclusive as studies such as those for Crohn's). But most diseases aren't as simple genetically as Tay-Sachs or cystic fibrosis. Most are complex, apparently the product of environmental, genetic, and ''other'' influences. So what you are NOT going to find out definitively is what treatments you might respond to, WHETHER you are more likely to die of colon cancer than anything else... not solely from 23andMe. Not at this point, when there is a very great deal of uncertainty even within the statistical genetics community as to the overall utility of many of these expensive genome-wide association studies. Are they producing results? Fuck yeah! Are those results directly translating into cures or treatments? Uh...

If the current perception is correct, and RNA + environmental/epigenetic influences are in fact changing the genome on-the-fly, then a tissue bank that can re-run the snapshot you sent in (as a buccal, aka cheek, swap) against newer technologies may be of limited utility. The inherent utility is, in that scenario, delivered by the newer technology, and the expertise to run a 'hot' scan on affected, unaffected, or potentially-affected individuals at a particular point in time.

It's unclear to me how their infrastructure could help with this final item, and for all of Brin's wealth, I still don't see them bringing humanity closer to that point. The information could hurt you, by making you uninsurable, but I can't see a snapshot of potential risks helping people the way that newer technologies offering time-lapse snapshots of a person's genome may. That's why it bugs me.

Had to get that off my chest, I guess.

JMHO.