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Clarification: while 23andMe could fully sequence your genome using the sample you provide (which I assume they bank...), that's not what they actually do currently - your DNA is instead chopped up into short segments and run on an Illumina SNP genotyping microarray (to obtain variant calls at thousands of genomic loci found to be relevant in various association studies).

Your DNA is never actually fully sequenced, because that is currently too cost prohibitive...




> Clarification: while 23andMe could fully sequence your genome using the sample you provide (which I assume they bank...)

I'm not sure they bank it. They offer an upgrade that includes more tests, but to take advantage of it you have to send a new sample. An upgrade that did not require sending a new sample would surely have a much higher conversion rate, so I'd expect they would offer that if it were feasible.


That's interesting. I just assumed that they would, since DNA is pretty stable once extracted and storing nano or micro liters of materials, even at -80C, shouldn't be too expensive considering the upside.


They require a good amount of spit, in order to ensure that they get enough DNA from each sample. It's quite likely that they're not left with much afterwards, and for many of their samples there may be nothing left at all. Banking the DNA is a whole other hassle. Banking the 500,000 samples that they've done so far would require quite a bit of freezer space.

Also, based on their recent statements, it seems that 23andMe doesn't actually do any of the lab work, they contract out to a lab partner. Based on the amount of capital they've raised, I would have assumed that they did everything in house. Anybody know more about this?


"Banking the 500,000 samples that they've done so far would require quite a bit of freezer space."

Maybe one or two -70 freezers full of eppendorf tubes. It's not a significant cost.


I'd never calculated the density of eppendorf tubes before, but it looks like they would fit in 3 cubic meters. Needless to say the freezers I've used have not been nearly that well packed.


My understanding was that the reason they require "a good amount of spit" was actually so that you couldn't steal someone else's saliva and submit it for testing.


I'm 98% sure that when I signed up it was presented as a choice: "Do you want us to bank your DNA for free?". I signed up after they changed SNP arrays (I think it was v2 -> v3 that the above poster is referencing offered upgraded reporting). I'm not sure if the banking was only implemented post v3, or if they had some other reason to re-collect spit despite having some DNA banked.


Your DNA is never actually fully sequenced, because that is currently too cost prohibitive

Q> Does anyone know the actual/current pricepoint for this?


Currently about $3,000 and falling.

See http://www.genome.gov/images/content/cost_per_genome_apr.jpg


Not quite... that it the raw sequencing cost and doesn't cover the prep work required, or likely the computational resources required for processing. It is actually almost to the point where the computational costs are more than the costs of raw sequencing.

And, for the places where you can get a $3K genome sequenced, it isn't likely that they will service outside (non-research) customers.



http://en.wikipedia.org/wiki/Full_genome_sequencing

The page cites only 69 people so far had it fully sequenced, and it cost about $100k a few years ago


That figure is only for publicly available sequences. The cost is now under $5k, and I'm sure thousands, if not tens of thousands, have had it done. (Including me!)




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