Next step in consumer genomics, exome sequencing

Sep 28th, 2011 | By | Category: Companies, Genes

There are several ways to get information about your genetic code. I’ll give it an analogy. You can read a non-fiction text book by reading the headings, the pertinent graphs and perhaps some highlighted sentences. You’ll get a good amount of information, but not all of it. Or you could read the book from start to finish. You’ll get a lot more information, but not all of it. Or you could read the whole book and the footnotes and references. You’ll get pretty much everything you can get from the book (but not all of the possible information of course).

Not a perfect analogy, but lets relate:

There is a genomic scan like 23andme will do for $100 (plus $9/month subscription for information updates). This looks at about 1 million variable sites in your genome that are very informative (this is out of 3 billion sites total, most not variable).

You could just sequence that part of your genome that encodes proteins. This is a lot more information, about 30 million sites (but not all are variable sites). This is called exome sequencing. It still misses a lot (variations in the part of the genome that affects how genes are turned on and off, etc), but it’s more. Is this worth it? In Matthew Herper’s article at Forbes he quotes:

But, as science policy wonk Jonathan Gitlin wrote on Twitter, “for a consumer it still seems to have such marginal utility, especially at that price.” If there’s a medical need, 23andMe may not be the best way to serve it. If there’s not a real reason to look, there’s also nothing to look for.

This seems the same dismissal of consumer genomics we have with genomic scans. One that I heartedly disagree with. Genomic data does indeed have medical utility. Exome sequencing is a increased utility beyond what a genome scan that might be. In fact, wouldn’t it replace some very expensive genetic tests now done? The sentence “If there’s not a real reason to look, there’s also nothing to look for” just seems obviously wrong. If it were correct, than preventive medicine in general is a waste. Is it worth it at that price? Perhaps, for those ‘first adopters’ and the curious. They often spur on further development…

and the next step would be that  you could sequence most of the genome’s 3 billion sites (or basepairs or nucleotides) for a much fuller picture.

The genomic scans have gone down from over $1,000 to 100 today and will get cheaper.

23andme just announced a pilot program to sequence your exome for $1,000. They say on their site that this is for first adopters who know their intron from their exon (though you could brush up on that) and who have $1,000 dollars of course.

So, just 2-3 years ago a genomic scan was over $1,000 for the consumer. Now you can get it for nearly a tenth of that. Today, you can now get an exome sequence for $1,000. How long before that is offered for mere hundreds and ready for “prime time?”

As this article states,  exome sequencing might be a flash-in-the-pan and we’ll get to $1,000 for a full genome soon enough. About 15 months ago I made a prediction we’d get to 1,000 by this year. I modified that to 2-3 years… so by this time next year, or soon in 2013, will we have consumer-directed full genome sequencing for under 1,000?

The question remains though, is this working for companies such as 23andme as a business model? As Matthew Herper ends his article,

The science is marching on. The business model is still getting sketched out.


Update from around the blogosphere:  The Genetic Genealogist points out that Daniel McArthur had a good post about Venter’s exome sequence from 3 years ago.

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