When the doctor told me I had Ureterolithiasis, I logged into 23andme to check my genetic risk. There was only one SNP (rs4293393) listed there. The G allele increased the risk 14% but I have AA, so typical odds.
Next step was checking SNPedia where I found 8 SNPs, of which some are given below.
rs219780 (23andme): The high risk is CC but I wasn’t genotyped at this location. Also, CC is the most common, so it is quite likely that I have that.
rs219778 (23andme): Carriers of TT have a slightly increased risk and that’s what I have.
rs9310709 (23andme): Risk allele is C and I have CC.
rs10941694: I was not genotyped.
rs13070584: I was not genotyped.
More important than these though is the simple fact that my Dad had it too. Thus if there is a genetic association, I am likely to be higher than typical risk.
Last year in April, 23andme were having a sale for DNA Day, selling their 550,000 SNP test with ancestry and health information for $99 instead of its regular price of $499 at that time. So I decided to take the plunge and sent my spit from the East coast to the West to be analyzed.
Then 23andme had another sale ($99 again but with the catch of a minimum of a year of $5/month subscription in addition), I got my wife and my sister to do it on 23andme’s new version 3 genotyping chip with more than a million SNPs.
I got my results in May 2010 and have been having fun with them since. So let’s take a look.
There are reports for your genetic risk of a bunch of diseases. Those are interesting and useful in some cases, but there is still a lot of work to be done in the area of genetic associations of diseases and for now except for a few important discoveries, family history is probably a better predictor of your disease risk than genetic testing. Oh yeah and there are a couple of scary-looking numbers in my reports.
The health reports also show carrier status and drug response.
In terms of other traits, it’s mostly information I already knew like:
- I can taste bitter tastes
- I have wet earwax
- My eye color is brown
- I have curlier than average hair
One thing that was a surprise was that I am likely to be lactose intolerant. It’s possible I am somewhat tolerant due to environmental reasons.
Since I wanted more analysis than the 23andme reports gave, I downloaded Promethease which is a freeware software which uses all the information at SNPedia to create a report about your SNPs and what features, traits and health factors are influenced by them. The report it generates is long and interesting, though not formatted very well.
PS. Yes, this is the sort of topic I alluded to in my return announcement.
While there is more navel-gazing coming (mostly about ancestry and genetics), there’s going to be posts of more general interest. Let me just go ahead and say that the friend Razib mentioned is me.