Tuesday, April 16, 2013

the human genome project 10 years on...,

NYTimes | How hard is it today to sequence a person’s genome? We can sequence a human genome in a couple of days for well under $10,000, probably around $4,000 or $5,000. And we sequence the genome you got from your father and the one you got from your mother. That’s a total of six billion bases. It is already around the cost of an M.R.I., and it will get cheaper yet. The original Human Genome Project sequenced just one representation, three billion bases.

How did it get so cheap? In April 2003, right after the completion of the human genome, our institute put into print a call for technology to deliver a $1,000 human genome sequence. That became the battle cry. I remember thinking someday we would get to a $1,000 genome. I don’t worry about the $1,000 genome anymore. We have had six orders of magnitude improvement in a decade.

What about the naysayers who asked, “Where are the cures for diseases that we were promised?” I became director of this institute three and a half years ago, and I remember when I first started going around and giving talks. Routinely I would hear: “You are seven years into this. Where are the wins? Where are the successes?”

I don’t hear that as much anymore. I think what’s happening, and it has happened in the last three years in particular, is just the sheer aggregate number of the success stories. The drumbeat of these successes is finally winning people over.

We are understanding cancer and rare genetic diseases. There are incredible stories now where we are able to draw blood from a pregnant woman and analyze the DNA of her unborn child.

Increasingly, we have more informed ways of prescribing medicine because we first do a genetic test. We can use microbial DNA to trace disease outbreaks in a matter of hours.

These are just game changers. It’s a wide field of accomplishment, and there is a logical story to be told.