Substack cometh, and lo it is good. (Pricing)

100,000 Genomes Project

220px-DNA-Sequencers_from_Flickr_57080968 (1)If I’m reading the headlines right the 100,000 Genomes Project in the UK is getting 500 million dollars to see it through its target date of 2017. From what I can tell they haven’t even hit 1,000 genomes, so they need to ramp up. But the way technology in this area is moving it doesn’t seem implausible that they could hit their target. The focus of the project is biomedical, so I hope that there is a good representation of the UK’s Asian and African descended populations. Even proportional representation will increase the number of whole genomes of some of these populations (e.g., the UK is ~5 percent South Asian, so that would be 5000 whole genomes), especially if the coverage is very high.

As is the case with most of these sorts of endeavors the payoff is probably much higher in the medium to long term than in the foreseeable future. Before 2025 for example. But someone’s going to have to make this sort of technology banal and boring first, and the Britain with a centralized National Health Service is probably a good candidate for that. Obviously the results are going to be somewhat top down, but the capital investment is too high in the short term to imagine that a firm like Personalis is going to be able to revolutionize the sector in a broad sense.

I’m skeptical this is vaporware. National pride is on the line, and you have major backers like Illumina. But I have to observe that the Faroes Genome Project hasn’t updated its website for a year. So there are instances of lack of follow through.

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