Recorded: 02 Jun 2003
That was the scariest thing about this meeting. We are in great shape for comparing the DNA between not only humans but a variety of other species. It’s fabulous and we are going to do a great job of it. But when we wat to understand how those differences relate to functional differences between different species, or which ones are important, the bad news is we don’t have a clue how to do that. And that the people at this meeting probably aren’t the people that are going to figure that out. Just like the people that pasted the genes early on in the 1980s weren’t the ones that sequenced the DNA. We are going to have to find a new constituency of people and those will probably be people much more physiologically oriented. Totally different skills set than the people that we have today. And the same process will take place and it will probably take another fifteen years of meetings at Cold Spring Harbor that will meld these groups together for us to understand function.
You know I started off by saying that my dream was having the sequence of the genome so you could correlate it with things and impact people lives. What am I talking about? And how can we do that if we don’t understand how the biology works? I believe in the following way…We have all kinds of pieces of information in life today that we don’t match up to people. So for instance we have women with breast cancer who the doctors say well I’m going to give you both chemotherapy and radiation because I don’t want to take any chances that you will have metastases. But not every woman needs chemotherapy and radiation. Some only need one and some don’t need either one. But that there’s no clear information that allows people or doctors to choose between those. So if we could actually take women with breast cancer. Do an experiment, right. And it’s called a clinical trial really with people who want to volunteer for this. Not doing it because they think that it’s going to help them at that point in time. But it will help others. And figure out based on the genetic variations which individuals with certain types of breast cancer benefit best from one or another type of treatment. Then that information can be used to impact the choices that individual patients and doctors make. That’s one example. There’s already evidence for this. That you can use expression array analysis to do that. And now with the sequence of the genome I believe that we can use DNA differences across the whole genome to do that. So how would that pan out in the future. That’s a medical application. What’s another possible application? Helping people choose between different drugs that they take. Or identifying people at risk for a disease like diabetes and identifying those group of people based on their DNA differences that are more likely to lose their kidneys as opposed to a group of people with diabetes that won’t lose their kidneys. What do we do about that? Well, we already know how to treat people that are going to lose their kidneys if before they lose their kidneys and have, you know, kidney disease where they need transplants. If we just worked on that subset of people to put medical resources to keep their glucose low, they won’t lose their kidneys. We know that. But we can’t identify those people right now. So we don’t know how to apply the limited resources and it gets distributed across everybody with diabetes. So there’s some practical examples of how we can use DNA in the future without knowing actually how the genes lead to the disease to impact people’s lives.
The final area could be in food. So we start not thinking about disease but we think about daily living. Things that we all do every day. And that the biggest selling books in the world are diet books. The problem is that they don’t really come with any content that allows us to know which diets are really going to work best for each individual but there will be certain classes of people that will take certain classes of diets and it will impact their life in a major way. So these are ways, you know, that knowledge just of the DNA variation and of the expression can impact people’s lives while I’m still alive. And so that’s very exciting. The long run though we want to take this information and do understand how it works. But as I said earlier we don’t have a clue as to how to do that. And that’s just going to be heavy lifting; of doing hypothesis based biology as we all have been doing you know before I was ever a scientist and long after I’m dead. What will make that an easier task though is that since we have all the genes in the human genome we now are in a position where we’ll be able to go through and know the genes that are hooked up with a particular process that we want to study so that the hypotheses will be much more concise and more likely to leave results than the sort of random way we do it now.
David Cox received B.A. and M.S. degrees from Brown University and M.D. and Ph.D. degrees from the University of Washington. From 1980 to 1993, Dr. Cox held faculty positions in the Departments of Pediatrics, Biochemistry and Psychiatry at the University of California San Francisco. In 1993, he became Professor of Genetics and Pediatrics at the Stanford University School of Medicine as well as the Co-director of the Stanford Genome Center.
Dr Cox was a co-founder of Perlegen, and has been Chief Scientific Officer of the Company since its formation in 2001. He has served on several international and national councils and commissions including the Council of the Human Genome Organization (HUGO) and the National Bioethics Advisory Commission (NBAC). He presently serves as a member of the Health Sciences Policy Board of the Institute of Medicine. Dr Cox's honors include election to the Institute of Medicine of the National Academy of Sciences.
Cox was a member of one of the first groups to begin sequencing the human genome. His relationship with Watson developed from his interest in Cox’s innovative approach to sequencing, called radiation hybrid mapping.
He attended the 68th Cold Spring Harbor symposium to celebrate the completion of the rough draft of the human sequence.