Springboard: What is next on the horizons of genetic research? With me to help answer that question is Dr. Richard Gibbs, a professor of Baylor College of Medicine whose lab was responsible for sequencing 10% of the human genome. Dr. Gibbs, it has been a little over a year since we heard with great fanfare the genome was mapped. Give us a status report where we are today.

Dr. Richard Gibbs: Well, the project is not yet fully completed. It is racing towards that point. What was announced back when you mentioned was the completion of the draw sequence, which is what we might call about a half-done job. We are looking forward now to seeing that sequence upgraded across the whole genome so we have really precise information about every gene.

Springboard: One of the surprises was that when you set out to begin this process, there was an assumption there were some hundred thousand human genes in the human genome and turns out quite a bit fewer than that.

Dr. Richard Gibbs: That's right. The estimates that we had around a year ago were about 30,000 and that was really quite a shock because that doesn't give us that many more genes than simple organisms like flies and lamb worms but a more recent estimate we've been able to get because of the improvement in the quality of this whole project and those estimates are a little higher. But still, much less than a hundred thousand.

Springboard: Were there other surprises, things you didn't expect to find that you did or things you hoped to find that you did not?

Dr. Richard Gibbs: Oh, there really were. You know, it's hard to broadcast this as a non-scientist. But I think if you can imagine having a lot of post cards from different cities in Europe and imagining that as what you knew about Europe and suddenly you were given a map of the continent with the streets and the houses and every neighborhood, you could appreciate the difference in the view we have now about our genetic material.

Springboard: We think of the human population as being so different in terms of race, size, hair color; and yet one of the findings is that the human genetic composition is about 99.9% the same no matter who we are, where we live, what our circumstances are. Was that a surprise to you as well?

Dr. Richard Gibbs: Well, that much was known before we started this phase of the project, but we've certainly been able to validate that and more accurately quantitate that. But it is true right across the whole human population we are very, very similar. And let me add to that. It turns out we are actually more different amongst small groups than between groups.

Springboard: What do you mean by that?

Dr. Richard Gibbs: The amount of variation at this level that you'll find, say, within the north American population is actually least as large as what to you might find between in the single average north American and say someone from Africa.

Springboard: Talk about the next phase. The genes, of course, are what determine the kinds of proteins that are our bodies make up. What is the next step in terms of determining and learning the significance of that?

Dr. Richard Gibbs: The whole motivation for this project was to help human health and alleviate suffering. We want to cure diseases and to do that you have to understand what causes them. The Genome Project was about uncovering those building blocks and understanding how they fit together and how they come together and, if broken, how they cause disease. We are moving now to the process of uncovering disease mechanisms; associating genes with diseases.

Springboard: Tell us how long it will be before the average person, consumers, patients see some benefit from this research?

Dr. Richard Gibbs: They will start to see diagnostic tests arising directly from this project in the next year or so, several more years before we really understand more about diseases, and cures to follow after that.

Springboard: Doctor, thanks very much for bringing us up to speed on where we are at.

Dr. Richard Gibbs: Thank you.

Department of Molecular and Human Genetics, Baylor College of Medicine