Genome, part 1

I just sent a tube of spit to 23 and me.

23 and me are one of three companies already up and running with “personal genomics,” and I’m getting what passes for a thousand bucks worth of my genome analyzed. You give them a credit card number, they send a sample collection kit, and in short order you log into their web site to see the results of their analysis. Hopefully, they won’t have broken the “download your raw data” feature before I get access. While their web portal is interesting, the potential to use my own data directly is way, way better.

They use a machine from a company named Illumina. The experiment provides a “read” on both strands of my DNA for a single letter at each of more than 600,000 locations in my DNA. These are locations where we have some sort of evidence that a “single nucleotide polymorphism” (SNP) occurs. That is, a one-letter swap that somehow matters in genetics. SNPs are one of the things that count as “genes” these days.

For some of these locations, we have pretty good data on physical traits that are correlated with specific letters. Here is an example entry in snpedia called “Rs1815739”. In this case, the evidence suggests that there is a correlation between particular letter pairs (CC, CT, TT) and whether you’ll be a better “sprint” or endurance athlete.

For the vast majority of the locations, we know next to nothing. They’ve been identified as variable locations … but nobody has a clue what affect (if any) they have. By “vast majority,” I mean “more than 99%”. Seriously, I’m getting data about myself that will be unwrapped … project by painstaking project … over the next couple of hundred years. I plan to crib a couple of scripts from cariaso to email me research summaries of my loci of interest every morning.

For the record, there are a bunch of other things that also count as “genes” which are not measured by this experiment. This is the one that happens to be really easy to measure in bulk right now.

This is the future?

The consent letter in the package is telling:

You should not assume that any information we may be able to provide to you, whether now or as genetic research advances, will be welcome or positive.

So there we go. I’m “getting my genome done,” for a few reasons. Primary among them is that I find myself in the role of explaining this technology to friends, family, and customers. If I’m going to form some sort of opinion on it, I’d better be well informed about the whole process. I also have some simple curiosity about the basics of my genetic makeup … and there are a few “gotchas” out there that would let me adjust my lifestyle in my early thirties to increase the odds of living into my late 90s.

So how does it feel? It feels a bit scary, actually. I wasn’t expecting the degree of approach-avoidance that I felt, looking at that little plastic tube … and then looking at the fedex envelope to ship it off. I know better than most people that “genetics is not destiny,” … and I’ve been saying for a long time that more accurate information *always* leads to superior decision making. Still … do I really want to know about Hodgkin’s?

Yes. Yes I do.



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