Genomic medicine: the human genome project from a healthcare provider's perspective.

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I'm delighted to be here today, and I want to thank Professors Davis and Engel for inviting me. The other thing is, I want to apologize for my voice. I'm hoping that my laryngitis that I developed yesterday will allow me to complete my talk and my comments.

I also just wanted to parenthetically say, whenever Dr. Zahka was mentioning something that I might have an opinion on earlier this morning, it wasn't that I was being too shy to mention and make any comments, it was that my voice wouldn't have carried, and if you all know me, you know how frustrating it was to sit back and not be able to have this discussion.

Anyway, I wanted to begin today by telling you what my role is, and what I thought my role would be, because we've begun with a clinician and we've ended this morning with another clinician, and it's really to give you another viewpoint about how genetics actually works within healthcare, but with a specific goal of talking about what those consequences might be, and how those consequences really affect both the patients, their family and society as a whole.

So I thought it would be best to frame my comments back on some scientific information and frame it against the Human Genome Project that we've actually discussed several times this morning, but to put it within context as to what this genetic information actually tells us and how we actually then can use this information to move forward.

The Human Genome Project really began a number of years ago as an international consortium where the goal was to sequence and identify all of the genes in the human genome. (2) So that was the major goal, and as a matter of fact, this year, they were able to publish the first draft sequence, so all of the genes within the human genome at least have been published in what we think will be a preliminary fashion. But there have been some surprising events of this particular endeavor, and some of the surprises have been just in our number of genes, where the estimates of genes had been between 60 and 100,000 genes that made humans "human," and we now estimate that it may be about 35 to 40,000, and as my slide shows, these estimates change almost on a daily basis, so it depends on which study comes out at the latest time to actually see how many genes do we have.

The other important point is that all human groups really have a great deal of similarity in our genomes. So as you can see, I use the phrase "human groups" rather than "racial groups," because the concept of race is now under a lot of discussion, because of the Human Genome Project and our understanding of what makes people people is one of the most exciting things that we've been able to do at the end of this century and going into the next century.

But the Human Genome Project from my point of view as a healthcare provider has really been on what advantages and what advances can we be able to provide from that. So we really learned a lot about how genes work, how they talk together and how we actually have both health and disease as a consequence of the Human Genome Project. So really understanding this complex interaction is one of the most exciting things as well.

What this really has done for healthcare is allowed us to individualize our healthcare. To be able to say for one person against another that their genes might, in fact, give them a basis to be healthier or actually, might have more problems with illness. So this individualization is what's really new and what's been important.

So I want to introduce another concept, and that concept is one of genomic medicine, so it may not be something that you've heard before, but it's been used as a way to try to describe, how do we use this genetic information that we get from the human genome, and then actually translate that into patient care.

So what I have up before you is just a small quote from Dr. Art Beaudet's 1998 presidential address to the American Society of Human Genetics, where he essentially defines genomic medicine as the routine use of genotypic analysis, usually in the form of DNA testing, to enhance the quality of medical care. (3) So it's not testing for testing sake, it's testing to actually use that in an active way to take care of our patients and to even advance medicine.

So what I wanted to talk a little bit about...