Genes for the masses

The Boston Globe has a story about geneticist George Church and his quest to bring whole-genome sequencing below $1000.

Church knew that a key to making gene sequencing fast and affordable lay in miniaturizing the process. He coats a slide with millions of microscopic beads, each impregnated with chemicals that light up when exposed to DNA base pairs. A digital camera fitted to a microscope photographs the pattern, and software decodes the results. His process is more than 250 times faster than conventional technology. In short, rather than take seven years to sequence the human genome, Church's machines can theoretically do it in less than a week. He says "theoretically" because he and his students have only decoded the DNA of E. coli, which is 1/1000th the size of the human genome. Based on his current costs, he thinks he could decode a human genome for about $2.2 million.

I wrote about this technology last year, but the Globe article is pretty informative about the work behind it.

And it has this hint:

Meanwhile, at least half a dozen well-funded labs across the country are shooting for that $1,000 target. One, a Connecticut firm called 454 Life Sciences that runs a somewhat different microscopic technology, rivals Church's so closely that no one can predict who will reach the goal first.

My question is, why are they shooting for $1000? It seems to me that if you can go from $2.2 million to $1000, it won't take very much longer to go to $100, or even less. The materials cost and computational resources certainly won't cost that much in volume.

They are framing the cost in terms of the cost of a personal computer, but it wasn't so long ago that the "accepted" cost of a PC was over $3000, and now most buyers spend a lot less than $1000. So that's arbitrary too.

My guess is that the magic $1000 figure that keeps getting quoted is an attempt to prime insurers to expect that billing amount when the process becomes common. The question is not how much you would pay for a genome, but how much an insurance company would pay on your behalf. A lot of diagnostic procedures approach that billing amount, so it is a convenient pricing hook.

If I'm right, then you can place the $1000 genome in the same category as MRI scans and X-rays, neither of which is priced at what it is worth in materials or energy, but in terms of amortization of equipment and expert interpretation.

Except for genome sequences, the fixed investment may be a whole lot less than for any radiographic equipment. After all, with an MRI machine, you have to have it on site (in the basement, since no floor can hold it!), and you can only run people through at a slow rate. More patients per hour and you need more machines.

With genomes, you can always send material away to a central lab -- it doesn't have to be on site, and with enough miniaturization and automation there may be no hard limit on the speed of sequencing.

What we are not seeing is much in the way of justifying the value of the genome sequences in terms of medical cost savings. So far, the benefits are purely hypothetical -- if you know your alleles, you can take measures to prevent disease early, or you can avoid harmful drug interactions, etc.

So far, "personalized medicine" is a race where the only competitors want to add drugs (or other patented compounds) to the normal regimen of people we now consider healthy. The promise is that this addition will evade problems later in life.

But what would be really nice (and quite possibly necessary given the explosion in health costs) is for genomes to decrease the cost of medical care. Know your genome, and avoid expensive problems. Or other unnecessary tests.

Maybe a long life of taking cheap prophylactic drugs will save many expensive hospital stays in the long run. Maybe enough harmful drug interactions will be avoided to create net savings.

But I'd like to see the other competitors in the race, if there are any.

(Via Gene Expression)