Richard S. Cooper
I very early got the idea that what I was going to do was prove to the world the Negroes were just like other people.—W.E.B. DuBois
Biology is being transformed by the advent of technology that allows us to define the molecular basis of genetic variation. Having pushed physics off the pedestal reserved for “big science,” biologists have sequenced the genomes of half a dozen organisms, altered the sequence in even more, and cataloged millions of the DNA variants found in humans. The technological capacity to read and manipulate genes has in turn generated speculation that our ability to solve health problems will be transformed in a similarly dramatic fashion. Acknowledging that we are in the early stages of this new era, the practical accomplishments of genetic medicine to date are much more modest, however. Although great success has been achieved with the rare monogenic disorders, for the common chronic illnesses that account for most of the death and disability in our society, genomics has yet to elucidate the pathophysiology in important ways or improve treatment (Cooper and Psaty, 2003; Khoury, 2000; Lander, 1996; Report of the Advisory Committee on Health Research, 2002).
Describing the genetic underpinnings of common chronic diseases is a challenge of infinitely greater complexity than obtaining a sequence of nucleotides or finding single gene mutations. A quantum leap in biology will be required before the genes and the associated physiologic abnormalities that confer susceptibility to chronic disease can be understood. Given the intertwined effects of genes and environment on these conditions, the question remains as to whether or not important genetic causes can even be identified. Nonetheless, the exploration of the genome has accumulated unstoppable momentum and will profoundly alter our understanding of the