The Genomic Revolution Hasn’t Arrived

Jason Koebler flags a study showing that whole-genome sequencing is still prohibitively expensive and not very useful:

A new study on the present-day feasibility of whole-genome sequencing for clinical use by researchers at Stanford University found that it will cost at least $17,000 per person to sequence a genome and interpret the results, and it’ll take roughly 100 man-hours to perform any sort of meaningful analysis.

“The gist of it is we found that the results are generally not clinically acceptable,” said Frederick Dewey, lead author of the analysis, published in the Journal of the American Medical Association. “It’s a relatively sobering thought, and there are tough hurdles to get over before this is common.”

Dewey and his team completely sequenced the genomes of 12 people and analyzed them to predict their propensity for genetic diseases and other health concerns. The study was designed to test out some of the leading genome sequencing techniques and analysis methods. The expensive part, Dewey says, isn’t necessarily the sequencing of the genome (a cost that is constantly coming down), but the analysis after the fact.

But these findings don’t discourage Ricki Lewis:

I’m not surprised that looking at the genomes of a dozen healthy people didn’t provide a crystal ball to predict their medical futures for a simple reason. The human genome is so complex, with instructions buried in layers of molecular language, that the very idea of going from sequence to diagnosis may be flawed, at least until we can work out all possible gene-gene interactions, against the backdrop of the environment. But this limitation is itself limited. It will go away with time, as more and more human genomes are subjected to the sequencers and the annotators, who then whisper to the clinicians what, exactly, to impart to a patient. …

But even when we have complete genome sequences for millions of us, something I predict will be true within five years, genotype will not always predict phenotype. For DNA is not destiny.