| Not quite, that paper is pretty misleading if you're using it as a rock solid rejection of the $1000 genome. First, context: These are small scale clinical/experimental settings which clearly do not take advantage of economies of scale. Labor costs are thus greatly magnified. This effect is also obscured by their costing breakdown, which often does not separate reagent cost from labor. Unless I'm misreading this, the pricing that they define often includes 2 sets of sequencing runs, one for the baseline and one for the tumor samples. That puts the existing price at about 4000 USD for 2 samples or a 2000 USD/sample cost. The expansive definition of "sequencing cost" to envelope downstream analysis and storage here is also a mistake IMO. I would rather narrow down on specifically the cost to get the raw sequence data out, excluding clinical and bioinformatics analysis. This would include (reasonable) sample extraction, library preparation, and the actual sequencing process itself. There are definitely significant cost barriers to sequencing, but we shouldn't discount savings that come with scale. Of course, all this math goes out the window if we were to look at exome sequencing instead which while less complete, still gives a large amount of information at a fraction of the cost. |
Also, I would challenge your suggestion that "The expansive definition of 'sequencing cost' to envelope downstream analysis and storage here is also a mistake." I would argue that it's the opposite: delivering valid and useful sequencing results to a broad population would require even more resources directed toward analyzing the results and also interpreting them for the patients.