Friday, April 15, 2011

Happy DNA Day! Celebrate with 23andMe unboxing!

I'd like to start by wishing all of you a happy DNA Day! That's right, it's already April 15th again, which can mean only one thing: DNA Day is back! (...because it's not tax day in 2011, so you can celebrate DNA Day and get back to filling out your taxes tomorrow.)

Anyway, I got myself a gift for DNA Day, which arrived yesterday (and which you might be aware of if you read my last post). That's right, my 23andMe package arrived! So I thought I'd share the unboxing in case you were curious what you get in the mail when you order 23andMe.

It comes in a box a little bigger than a CD jewel case that looks like something from frog design. Very nice. The box is actually plastic wrapped with a sticker having your name and serial number on it (removed prior to taking these pics).

Opening it up, there's a set of instructions that look like something from Ikea explaining how to use the kit and send it back. (That's not a bad thing--they clearly put effort into making it dummy-proof.)
Savvy observers may have noted that the kit is a simple Oragene saliva kit. Spit in the tube. Close the lid. Remove the top. Screw the cap on and shake. (Again, dummy-proof instructions inside the plastic box containing the vial.)

Very straightforward. And I think the design is very well done. The box is the same one you send back to them. Just put the vial in the biohazard bag, put it in the box, re-seal it and throw it in the mail (it's postmarked already). The Oragene box does contain an instruction booklet with details in it for those interested.

You probably noticed in the second picture that they want you to go to their site to register. I did indeed do that. Pretty standard set of consent documents to go through.

I did find it interesting at the bottom of their consent form, they have three options about consent. One is to consent for yourself, one is to consent for another adult, and the third one is to convey your child's consent and authorize it as the parent/guardian. There goes my plan to genotype my children before they're old enough to deny me! (Kidding, kidding.)

You also get to choose whether to allow them to Biobank the sample. I said yes, of course. Then you provide a few other general details (DOB, sex).

Took no more than five minutes! The caveat is that you can't eat or drink for a half hour before spitting in the collection vial. So I will be doing that in, oh, about a half hour.

I'll update more on my 23andMe experience as it happens. Coming up next: Surveys and more surveys. They seem to have a ton of phenotyping through surveys, which I think is fantastic.

Monday, April 11, 2011

23andMe: FREE* genotyping, today only!

23andMe is offering FREE* genotyping today until 11:59PM PST to celebrate DNA Day early (apparently).

The asterisk is because it's not actually free. It's $108 plus shipping/handling costs because you have to pay for a 12 month subscription to their services.

Still, for about 1,000,000 SNP genotyping, this is a darn good deal.

I shot Dr. Wu (the one who posted the blog article on the 23andMe blog announcing the deal) a note asking about whether we got raw data back:
I’m a little curious about the subscription.
We get the raw data to keep and the subscription is to be able to view the data using your tools? So even after the year subscription is up, we’ll have the data for ourselves, right?
Her response:
Hi M.J. Clark,
Yes, you will always be able to download the raw data and retain access to content you had while you were subscribed. Some features, like the ability to Browse your raw data using our website, receipt of updates to your health reports and Relative Finder matches, and storage of your saliva sample (if you choose to biobank) may, however, be discontinued.
Sounds to me like we get whatever they qualify as "raw data" permanently regardless of the subscription, which is fantastic. Plus, gives those of us in the field something fun to play with.

I'm not actually sure yet what we receive back in terms of raw data (or if they actually give you back raw data). It's currently their version 3 platform, which is a modified Illumina OmniExpress Plus Genotyping BeadChip. Seems their v2 "raw data" took the form of simply genotype calls, positions and rsids. Not sure if that's all you get with v3 (but I'll ask and update later).

I'm interested for myself, of course, but if your lab has five or fewer human samples (per lab member) you've been meaning to get 1,000,000 SNP genotyped and you don't care about which specific platform it is, this is probably the best deal you'd get for a while. Food for thought! (Then again, why are you still genotyping? Go exome-seq those things!)

Update (18:40): Answer regarding the nature of raw data.

Dr Clark,
The raw data for v3 is formatted exactly the same as for v2, and is also against build 36 of the human reference assembly. That information is in the header of the raw data file; not sure if it is documented elsewhere except where people have made their raw data files public.
So it's NCBIv36 at least. I'm hoping they'll be willing to provide raw data in whatever basic format for those of us with interest later. Guess we'll find out!