The concept of the $1,000 genome is "misleading," says Laura Hercher on the genetic counseling blog The DNA Exchange.
Hercher, a faculty member at Sarah Lawrence College, acknowledges that the cost of sequencing is dropping rapidly, but notes that the "$1,000 genome" doesn't mean that "getting your DNA sequenced will cost $1,000" because the number "covers only renewables — those things like reagents and chips that are consumed in the process of sequencing. It does not include the cost of the sequencer or the cost of the tech who runs the sequencer. It does not cover overhead or profits. And most of all, it does not cover the costs associated with interpretation, without which a DNA sequence is merely an endless stream of A's, C's, T's and G's."
While much-hyped efforts like Mike Snyder's analysis of his own genome, which predicted that he had a high risk for diabetes, are commendable, "Snyder had available to him levels of expertise and medical care that are not in any way typical," Hercher says. "For much of America, paying for routine medical care is a challenge, and paying for acute or chronic medical care the most likely cause of personal bankruptcy."
Furthermore, she says, "Even people with money to spare don't usually get a sit-down with George Church to discuss their most disturbing sequence variants."
Hercher says that the $1,000 genome "is an enormous technical achievement" but warns that the scientific community should not "confuse people about what it means."
"The meme that represents the future of genetics should not be a bait-and-switch," she says.
An excellent point. There is
An excellent point. There is already a shortage of genetic counsellors and medical geneticists, with everyone sequencing their own genomes this will only become more severe. Not much to be done about it, except to moderate public expectations.
While the observation is well
While the observation is well taken, it is worth noting that several NextGen sequencing providers are already concentrating on this problem, and that this is a natural step in the evolution of any Moore's Law technology. When the part of the technology that was most expensive becomes as cheap as the rest of the value pipeline, smart providers start expending effort on improving the economics of the rest of the pipeline. Development of some accepted minimum standards of data analysis and shared proficiency benchmarking datasets would accelerate these efforts...
It may be heading this
It may be heading this direction but there is a long way to go as the author points out. It is also misleading for customers of our core facilities who are told my companies HOW CHEAP it is to do their sequencing when the companies leave out labor, some reagents to prepare the samples, and the service contract for the machines, to name a few.
I do think the price will
I do think the price will continue to drop -- I think it will drop until the cost of doing the test is a negligible part of the price, as it is for MRI's or CAT scans. But the other costs will remain significant -- particularly the follow-up, including surveillance and other preventive measures. The idea that personalized medicine saves money is way oversold! Some things could save money (pharmacogenetics, particularly) and others cost a fortune. Given economic realities in healthcare, I think we need to talk about this realistically. And not mislead the general public.
The $1000 genome is not a
The $1000 genome is not a bait-and switch. Its discussion has always been about consumables and never included the additional costs. Those leading the discussion and the push to $1000 were researchers, funding agencies, and companies who simply had the additional factored costs in a separate budget category.
I'm sorry that was a surprise to Laura and to the other lay people, but they are joining a conversation/dialog of sequencing costs that has been been on-going for several years. Just because it is repeated out of context, doesn't mean it is true. I've also seen several internet job listings where one can earn $200,000+ a year working from home. It doesn't take too much research to understand the 'hidden' costs.