Message from the Director
Genomic Medicine
Huntington F. Willard, PhD
With this issue, we announce the appointment of Geoff Ginsburg as Director of the IGSP's Center for Genomic Medicine. As this new Center launches, it is appropriate to ask what it will do and what, when all is said and done, is "Genomic Medicine"?
At the root of this question (and thus the cause for so much excitement about its potential) is the difference between "genetics" and "genomics." Many have attempted to articulate this difference and usually phrase it in terms that can be reduced to "Genetics one gene. Genomics = many genes."
"The science of genomes encompasses the study of their structure, their evolution, their expression, the proteins they encode, and their meaning."Is it really that simple? Well, yes and no. On one level, it's accurate: genetics deals with one or a few genes, whereas genomics addresses many or all genes in a cell/organism/population. But such a simple definition is inadequate. It is like saying the difference between a fertilized egg and a human being is simply a matter of the number of cells. And if there's one thing the sequence of the human genome has taught us, complexity is not really about simple numbers. How else to account for the fact that our 22,000-plus genes are still less than what one finds in the flowering plant Arabidopsis thaliana (~ 25,000) and less than half as many as the number found in the Japanese puffer fish (~ 60,000)?
Genetics is the science of inheritance. It is the study of genes (which comprise no more than 2% of the human genome) and their transmission. Human genetics is the science of human variation and inheritance. Medical Genetics is that branch of human genetics that concerns itself with disease.
In contrast, genomics is the science, not of genes, but of genomes. A genome is all of a living thing's genetic material (the suffix "ome" is from the Greek for "all" or "complete"). The science of genomes encompasses the study of their structure, their evolution, their expression, the proteins they encode, and their meaning.
Genomic medicine is the application of the science of genomes to the practice of medicine. In our view, it goes well beyond the traditional boundaries of genetics in medicine, as articulated by the medical specialty of Medical Genetics.
Genomic medicine, then, is an approach that will build on the comprehensive nature of the genome sciences. It will account for the enormous variation within human populations by summarizing it in digital form in large, all-encompassing datasets that can, in principle, be fully integrated with electronic medical records. Genomic medicine will recognize that the science of genomes reflects complex, nonlinear networks. As a clinical paradigm, genomic medicine will provide global, comprehensive an multidimensional treatment and management strategies based on the science now emerging from the study of genomes. Bringing these predictions to fruition is the mission of the IGSP's Center for Genomic Medicine and its incoming Director.
What will Geoff and the rest of us need to make this approach a reality? First and foremost: data. We will need to know more about the role of genomic markers in disease; in particular, large-scale clinical research will be essential. Just as important, though, will be developing an economic model that works. Also necessary will be a cultural shift in thinking about disease: are we now ready to move from a reactive view of illness to a prospective, integrative one? Can we make the transition from "sick care" to "health care"? Finally, we must address the sociology of decision-making—how, for example, will more precise risk estimates affect our choices?
While many of these issues can be dealt with by the for-profit sector, others are best explored within academia. Where else besides Duke could one assemble the diverse talent that will be at Geoff's disposal in Medicine, Nursing, Business, Sociology, and Public Policy, among other places on campus?
Jim Watson has likened the human genome sequence to "life's screenplay," a term chosen to reflect greater texture, nuance and improvisation than "lifecode" or "lifescript," words used by other authors. But even "screenplay" doesn't connote the full range of outcomes, the depth of options and opinions that go so far beyond the written code or stage directions. No, the genome does not work from a script. This is now the ultimate reality show — one that, with the emergence of the Center for Genomic Medicine, willbe increasingly played out in prime time.
Huntington F. Willard
Director