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very few clinically compelling reasons to sequence a whole human genome.

Isn't that a bit of a self-reinforcing problem, where the reasons to do something can't be developed until the thing has been done enough to find more reasons?



It is. That's why much of the WGS action these days is not is sequencing individuals in the clinic, but rather in large-scale population studies like UK Biobank. These are aimed at identifying interesting genotype-phenotype relationships, for which you need massive sample sizes. This approach probably will bear fruit eventually, but the outcome won't necessarily be that everyone gets their whole genome sequenced; rather, the discoveries will be translated into the clinic via either (1) targeted tests that assay specific variants discovered via the population-level studies, or (2) drugs developed on the basis of gene-disease associations.

This chicken-and-egg problem is also the reason why Illumina has invested massive amounts of money in companies like Helix and Grail, which are basically highly speculative attempts to find a problem for which loads of Illumina sequencing is the solution.




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