Earlier quoted context omitted.
There's no reason why we don't have sequencing for everyone at this point. There are at least two reasons: it's still expensive, and we still don't really know what to do with it. The "$1000 genome" is a bit of a myth, or rather PR hype from Illumina. Sure, they proved it could be done if you juke the numbers the right way. But I believe a clinical-grade whole-genome sequence still costs several times that much (see…
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…
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.