Monday, August 20, 2007

The genetics of normality   posted by p-ter @ 8/20/2007 05:48:00 PM

I previously mentioned the Nature Genetics "Question of the Year":
What would you do if it became possible to sequence the equivalent of a full human genome for only $1,000?
A large number of responses have now been posted; most of them are actually pretty dull. I wonder if everyone really is that passionate about finding the genes involved in their favorite disease, or whether they've simply convinced themselves of that because that's where the money is.

Anyways, I did appreciate David Goldstein's answer (note he was the leader of the group that published the paper on the genetics of HIV infection I briefly mentioned):
Less appreciated, I think, is the role that inexpensive sequencing will play in basic biology. Today genomics is expensive and concentrated on disease endpoints, which are necessary to motivate the high price tags of these studies. As full representation of human genetic variation gets less expensive, these studies can move back into the study of human biology. We humans are different from one another not only in the diseases that we suffer, but in myriad other details, small and large. Many of those are the result of genetic differences that remain unknown and almost unstudied. It is finally time to study all the normal variation that enriches the human world and experience-memory, behavior and personality. In short, economical sequencing of human genomes will help us to understand who we are and how we got that way.