Francis Collins, director, National Human Genome Research Institute The GNW Interview:
Francis Collins, Director
National Human Genome Research Institute

Bruce Goldfarb: You said once that there will be no post-genome era. What exactly do you mean by that?

Collins: I guess I'm worried that the use of this word "post-genome" implies that the genome is only about getting the sequence of the human DNA. I think that's much too narrow a view. I'd like to see all of medical research, or a lot of it, take on a genome attitude. That's the point, in fact, of generating all of these tools that are being produced by the genome project, is to make it possible for many questions to be asked and answered from a genome perspective, as opposed to one gene at a time.

BG: So we're entering a Genomic Age, like we entered the Space Age or Atomic Age?

Collins: Yes, exactly. By having the sequence in hand, we're at the end of the beginning. But the good stuff is mostly ahead of us. For people to say we're in the post-genome era, I say wait a minute, we're just starting into this.

BG: In Scientific American [December 1999] you said that by 2050 you expect we'll have a genomics-based health care system. How do you envision a visit to the doctor will be different?

Collins: I think we'll have the ability to practice individualized preventive medicine in much more powerful ways than we currently do. We'll be able to learn what your own personal risks are of future illness based on DNA analysis, and you can focus your own health maintenance efforts on the things that are most likely to be trouble for you. That might mean diet or lifestyle, or it might mean medical surveillance. But there will be a personalized aspect to how we try to keep ourselves healthy, which is largely lacking right now. All people are pretty much told to do the same thing.

By having the sequence in hand, 
we're at the end of the beginning.

That part will come along quickly, in the next 10-15 years. More than that, through our understanding at the molecular level of how things like diabetes or heart disease or schizophrenia come about, we should be able to design a whole new generation of interventions, many of which will be drugs, that have much more precise and efficacious outcomes with a limitation of side-effects. An awful lot of what we do now has been arrived at empirically, it's not necessarily based on understanding. The presumption, and I believe it's solidly based, is that all this molecular information will move us into a much more precise and logical approach to the prevention and treatment of disease.

BG: What about gene therapies?

Collins: I think the role that gene therapy will ultimately play in medicine is still a little up in the air. It's way to early, I think, to judge this field, which has really only been around for about ten years. I'm a little worried about the current focus on gene therapy. It's sort of lost its innocence, with the death of a patient involved in a gene therapy trial and the absence so far of a lot of evidence of success. People may step away from it and say, oh well, that didn't pan out. That would be a big mistake. Exactly what role gene therapy will ultimately play, and for which diseases, it's very unclear. But I have no doubt that it will play an important role in clinical medicine in another 10 or 20 years. I just don't think we should expect it tomorrow.

BG: What sort of timetable do you envision for discoveries to go from the genomics databases to the patient's bedside? Is this something we'll see in your or my lifetime, or is this mainly for future generations?

Collins: I think in the next ten years we'll see this ability to make predictions about individual future health risks, and the ability to implement this kind of preventive medicine approach. I think in that same timetable we will see, at least for some drugs, the ability to make predictions about whether this is the right for you or not in a certain situation based on doing an analysis of your own DNA, to see whether the drug is a good fit or has a side-effect that you should avoid.

The role of gene therapies
is still up in the air.

I think 20 years from now we should have the first wave at least, and maybe even more than that, of the new crop of designer drugs based on genetic understanding of illness, as well as gene therapies for at least some diseases. I hope to be around in 20 years to enjoy some of that. I'm not 50 yet, so I hope I'm not being too optimistic.

BG: Will there be a point in time when all diseases are manageable or curable?

Collins: I think so. However, the death rate is still going to be one per person, so you have to keep that in mind. Something will always get us. But the point here is to try to give most people the opportunity to live a long and healthy life, and then when life comes to an end have it do so quickly and painlessly. All too often, for too many people, many parts of one's life are affected by chronic debilitating disease that gradually takes you away. I think we'll be much better at preventing those things in another 20-30 years.

BG: What will that do to life expectancy?

Collins: That's a good question. In that Scientific American article, I speculated that we would also make some headway in understanding the genetic basis of aging. We are programmed to have our life span limited to a certain maximum of about 100 years. If we understood that program, we might potentially be able to interfere with it. Although it's not clear whether that will be achievable in the next 50 years, it might be. More realistically though, we'll see the average life span increase simply by the ability to avoid premature death in a lot of people. And of course there will be all sorts of societal consequences if we are successful in this. There are going to be a lot of retired folks. That will be a good problem to have.

BG: As a practicing Christian, how you balance your faith with the idea that we're playing god, reading the book of life? You're talking about altering life expectancy, the allotted three score and ten.

Collins: Except for Methusela, who lived to be 900-something. You know, I actually think these perspectives of science and faith ought to be merged more often. I'm happy that I have the chance to consider these issues from both perspectives. I do think we need a more effective dialogue between people of faith and people who are excited about the medical and scientific consequences of understanding our genome. I don't think we should be afraid of this investigation of our instruction book. It falls on all of us to be responsible in how we use it.

Certainly from my view, as a person of faith, we're not going to understand a lot of important things about the spiritual side of life by studying the human genome. God will still be there in a way that is not approachable from a scientific perspective.

BG: Since you study the evolution of life on earth, can I assume that you're not a biblical literalist?

Collins: I'm not a creationist. I don't believe in a young earth version, and I think I'm in a very large majority of people who have studied the bible for the last many thousand years. In many ways this new view that basically requires one to reject the evidence acquired by scientific study is a new appearance on the scene, and one that has done a disservice to cause thinking people to feel that they have to reject data that's put in front of them in order to demonstrate their faith.

The bible, in my view, does not require that kind of interpretation at all. You can go back to St. Augustine in 400 AD, when there was no reason from the perspective of scientific data to reject that young earth interpretation, and you'll find a very clear exposition of what sounds an awful lot like an evolutionary idea of how God might have created.

BG: Will the entire human genome remain in the public domain?

Collins: That is our firm intention. We continue to deposit all of our data every 24 hours. It should be realized that thousands of genes have had patents filed on them over the past several years. We don't even know how many such patents have been filed. Most of them have not been acted on.

BG: Celera has about 6,500 patents?

Collins: That's an understatement. I guess by now they're filed 20,000 or so patents. How many of those will end up getting issued is anybody's guess. But certainly any patents that are issued, unless they're challenged in the courts, you'd say that part of the genome is not in the public domain. It'll be in our databases. Anybody who wants to see the information will find it. But you might get a letter from a lawyer if you use parts of this, at least for commercial purposes, without getting a license.

BG: It's probably not a fair question for you, since you're not a patent lawyer, but it was my impression that you can't get a patent for something that's in the public domain.

Collins: Ah, if it's been put in the public domain first, that's true. It's a matter of the timing. But certainly by this summer, when we have almost all of the human sequence in the public domain, there will be no more new filings of human gene sequence patents. But there are already these tens of thousands of patents extending back to 1993 or so that are in the hopper.

BG: If the genome remains in the public domain, will it remain profitable for development?

Collins: Absolutely. One needs to look at this as a road to discovery. What we're providing is this very basic, fundamental information -- the sequence of the genome and a catalog that tells you about variations in that genome. But the application of that to understand disease and ultimately develop products is very much an activity which the private sector and the public sector will be working on. There will be no reason at all that one cannot obtain intellectual property protection on the use of the information. We just think that the sequence itself ought to be publicly accessible. If you have a great idea on how to use a particular sequence to make a product that the public needs, you can certainly file for a patent on that and you'd probably get it. That would be fine.

I am personally opposed
to the idea of human cloning. 
It is profoundly different than the way 
humans have come into this world 
since the origins of time.


The idea of having intellectual property reach all the way back to the basic sequence itself, especially when you don't really know what most of it is telling you, might have a counter-effect of actually inhibiting research rather than stimulating it.

BG: Will our knowledge of how the genome works expand appreciably? I know that there are vast pieces that are considered gibberish. Will there be layers of understanding of the complexity and what it really means?

Collins: Oh yeah. The parts that we now call junk undoubtedly will turn out to have some real nuggets of interesting stuff in there that we're just not smart enough to recognize. That will take the genome era reaching its full flower to understand. What about all the parts that don't seem to be coding for proteins? What are they doing? Probably a lot of them are involved in deciding which genes are on or off in a given circumstance. But there's much we have to learn about the long-range structure of chromosomes that may be in some way influenced by what we call junk.

BG: Genomics has allowed some pretty interesting developments -- biochips, transplanted jellyfish genes and all sorts of thing. To what extent should people be able to modify their genetic material, aside from controlling health issues? Will our kids make their hair glow?

Collins: I hope not. This is an area we have to tread extremely lightly. The notion of using genetic technologies for enhancements as opposed to preventing disease is an area the public has deep concerns about, and I share those concerns.

There are all sorts of issues there in terms of safety matters, because some of these scenarios would actually cause this intervention to be passed on to future generations, maybe without quite knowing what all the consequences are. There are all sorts of issues about fairness in terms of access to such technologies. Will this just increase the distance between the haves and the have nots? There's all sorts of issues about what's an improvement and what isn't. We are not that far beyond a period of devastating eugenics earlier in the last century. We have to learn from that experience that one person's idea of an improvement may be their way of putting down another group.

From my view, the area of using genetics to alter characteristics that are really traits and not really preventing disease is something we should undertake only with the greatest trepidation, and after a huge amount of public discussion. I think we're a long, long way from that.

BG: Is human cloning an inevitability?

Collins: No. I am personally opposed to the idea of human cloning. It is fundamentally profoundly different than the way human beings have come into this world since the origins of time. It is so different, and I cannot be convinced of a single instance where it would be ethically justifiable to take this step. I am strongly opposed.

BG: Your personal values notwithstanding, once the basic technology exists, isn't it possible that somebody somewhere will do it sooner or later?

Collins: Not necessarily. I'm unwilling to accept that inevitability, although it's commonly put forward. It was technically possible that we could have blown ourselves up with nuclear weapons. We didn't do it. Maybe we'll do it in the future, but we haven't so far, and we've certainly had the opportunity. So I don't think it's correct to say that just because the technology has come along that might have dark consequences we're doomed to go down that path.  


© Copyright 2000, 2007 Bruce Goldfarb. All rights reserved.