FRANCIS COLLINS Tracking Down Killer Genes

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Q . You just found the gene for neurofibromatosis, often confused with Elephant Man's disease. A year ago, you were instrumental in finding the gene that triggers cystic fibrosis. How will such discoveries affect the practice of medicine?

A. They will transform medicine in ways we can't even predict. I'm sure that a hundred years from now, people will look back on this era and shake their heads in disbelief in the same way that we look back on arsenic treatments for syphilis in the previous century. But that's in the long run. It's sort of a paradox. Here we have a field of research that I believe will totally change the face of medicine. The timetable is going to be slow enough that to the average person it won't seem like a revolution at all.

Q. But how will it be different?

A. There is going to be a shift away from a therapeutic sort of medicine, where you treat someone who is already ill, to a medicine where you identify the risks a particular individual has for developing certain diseases and then try to prevent that person from ever becoming ill. Ironically, one of the first consequences of a better understanding of genetics will be an emphasis on altering the environmental contribution to disease because that's a lot easier to change. If you know you are at high risk for lung cancer, your motivation to stop smoking will increase.

Q. You are both a scientist and a physician. Does seeing patients affect your research?

A. It adds a sense of urgency. The cystic fibrosis gene has been found now for a year, and in that year 1,000 people have died, including people I knew personally. That is both troubling and motivating. You can't sit back and treat what you do as an intellectual exercise when the mere mention of a disease brings to your mind the faces of people you care about. That's why it's important to have a certain percentage of people working in this field who are comfortable with both basic science and clinical medicine. If we don't, we are going to miss out on opportunities to apply this new information.

Q. Many people find the notion of genetic testing scary. Should they?

A. When you go to your doctor and have your cholesterol measured, what's really being measured is your genes. We as a society seem quite comfortable with screening for cholesterol and then using that information to alter behavior. No one would argue that testing for cholesterol is opening a Pandora's box. So we have already started down this path. Like it or not, we have opened the door and walked through.

Q. Surely you must have some concerns?

A. Here we are, poised on the threshold of widespread genetic screening that should be beneficial to people. Yet we are talking about carrying this out on a population that is largely uninformed about genetics. Those of us involved in genetic counseling are appalled by the scale of the problem.

Q. What kinds of things might go wrong?