DNA: The Machinery Behind Human Beings - Part 2

DNA tools continue to improve in their ability to determine details of a person's genetic make-up. NPR's Robert Siegel and Joe Palca survey the latest developments in the field.

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ROBERT SIEGEL, host:

This is ALL THINGS CONSIDERED from NPR News. I'm Robert Siegel with NPR's Joe Palca, and in this half-hour we're hearing about the human genome in science and commerce. This whole subject is of such recent vintage that there are scientists whose whole careers have been about the genome and who have been at it from the beginning, like geneticist George Church of Harvard Medical School, who hopes to see the day when for, say, a thousand dollars, each of us could get our own complete personal genome.

Mr. GEORGE CHURCH (Geneticist, Harvard Medical School): In a certain sense I've been excited about sequencing genomes inexpensively since I started graduate school in around 1977. And ever since then I've been exploring every way I can think of to achieve some sort of affordable goal, not necessarily a thousand dollars but something that we all could afford.

SIEGEL: So we're going on 30 years in this quest for the affordable genome?

Dr. CHURCH: Yeah, I'm sorry it's taken me so long.

(Soundbite of laughter)

SIEGEL: When it was announced that the human genome--somebody had actually mapped a human genome, how much had it cost to produce that one map?

Dr. CHURCH: When we started proposing to do this in 1985, we thought we could bring the cost down to $3 billion, and that's roughly how much it cost, including time spent mapping and figuring out what we're doing and so forth, about $3 billion. The community feels like that could be repeated with the same technology as was used at the end for about $20 million street price today.

SIEGEL: There aren't that many streets where $20 million can be seen as a street price. So it's a pretty expensive thing to do at that rate.

Dr. CHURCH: Absolutely. Nobody's signed up yet.

SIEGEL: So what's feasible? What's at the horizon right now?

Dr. CHURCH: In the last few weeks there have been a couple of articles published, peer review, that indicate about a tenfold improvement in that sort of cost. So that might bring it down to 2 million. But I must emphasize those analyses were done on simpler genomes than human. But the general impression is that the cost per base payer has come down by about a factor of 10. Still, 2 million is a lot.

SIEGEL: In articles about this, I see this sort of what I'll call the Holy Grail price tag of a thousand dollars. How many decades away do you think we are from a thousand-dollar genome?

Dr. CHURCH: Well, the NIH has put a time line--this is a goal, of course--of about four years from now, five years from the beginning of the project, to getting a hundred-thousand-dollar genome and 10 years from the beginning of the project, about nine years from now, for getting a thousand-dollar genome. And many people believe that there will already be tremendous advantages at the hundred thousand in the sense that you might do a piece of the genome for 10,000, which is an affordable lifetime expense. That's the cost of many standard medical procedures. So we hopefully will be seeing some sort of routine practice of the technologies that NIH and the various companies are now bringing out.

SIEGEL: What will be the format of my own personal genomics, my report?

Dr. CHURCH: Well, probably it will be surprisingly small. You could fit these things into some cell phones at this point. It's really only about a gigabyte of information, depending on how many frills you add onto it in terms of annotations and so forth. And the difference between you and, say, a standard one, which could be stored centrally, is even smaller. You can carry it around in a whole variety of electronic formats. I think the key thing is going to be how both your medical care providers and a variety of third parties help you deal with that information in interesting and intelligent ways.

SIEGEL: But perhaps to move far into the future here, you know, sort of in the way that people who are allergic to penicillin or diabetics might have on their body an indication of that, a little pendant or something, you could carry your entire genome around with you in your wallet, you say?

Dr. CHURCH: Absolutely. You could already do that if you had it. You could certainly carry around the generic human genome today in a small electronic format.

SIEGEL: But that would only be used for--if we met people from another species who wanted to know what we were generically like.

Dr. CHURCH: Yes, exactly. That wouldn't be very useful. You want your own, yeah.

SIEGEL: Well, Dr. Church, thank you very much for talking with us today.

Dr. CHURCH: Thank you.

SIEGEL: George Church, who is a geneticist at Harvard Medical School. He's been talking with us about the thousand-dollar individual genome project.

NPR's Joe Palca joins us now. Joe, what exactly would be the great benefit of a single genome for each of us as opposed to a number of different genetic tests?

JOE PALCA reporting:

Well, actually I think right at the end of that interview you hit on one of the key points. I mean, what we are doing now is we're comparing sort of the generic human with different species, the generic chimpanzee or the generic mouse. And we're using that kind of difference information to understand the differences between the species.

What's going to happen as the price of doing genome sequences comes down is people are going to be able to compare humans with humans. And so you're going to be able to start asking subtle questions about what is it that's different between someone who gets a heart attack and someone who doesn't get a heart attack? And that's where having this total genome, a lot of them cheaply--now the one you carry on your person, you know, the one you're carrying around with you, it may be useful for just a part of it, but it's by itself not going to help. It's only going to be when there's a lot of these things and that people are able--scientists are able to ask questions about what is it in the genes that is critical that makes one person susceptible to disease and another one not?

SIEGEL: But to be able to address those questions using the genome, there would have to be a very, very large number of people whose genome had been taken and also a fair amount of time to see what they experienced in their lives.

PALCA: Right, exactly. And those are the experiments that are going to be made possible by this cost coming down. But I think also George Church said that before that there'll be little bits and pieces that are going to help doctors make decisions about patients. For example, there's a blood thinning drug, you know, now called Coumadin--its generic name is warfarin--and it turns out it's very hard to know the exact, correct dose of that. But there's certain parts of the genome that if you happen to know which mutation, which form of a particular gene you have--and sometimes it's things not in the genes at all but in this junk DNA--which part of the junk you have, so-called, you can predict the doses better. And that's the kind of thing that's going to happen with these lower-cost genome projects.

SIEGEL: Of course, there is genetic testing done on newborns nowadays, but do you think that within nine years, as George Church implies, there might be, say, for newborns a complete genetic map of the baby that you take home or you leave on file at the hospital?

PALCA: It's possible. Either that or there will be the intelligent subset of that so that instead of a thousand dollars for the entire genome you'll have $600 for the two billion base pairs that really seem to have some kind of medical information that people and doctors can make use of.

SIEGEL: There are obvious philosophical and legal implications of these developments. For example, we take care of health care largely through the notion of insurance, which is the issue of risk. The more clearly we understand what your risk is as opposed to my risk or the third person's risk is, the more obvious would be possible discrimination against the fellow whose risk is greater. Are we any farther advanced in that discussion of privacy, insurance, knowing what people are susceptible to or knowing what people's genetic proclivity is, than we were a couple years ago?

PALCA: Well, I'd like to tell you that the answer is yes, and I know people who are pushing very hard to keep that discussion bubbling. But there's a lot of other things that have been taking people's attention away, and it may be that people are more passionate about moving the technology than they are moving some of these social issues forward.

SIEGEL: Joe, thanks a lot for spending the half-hour with us.

PALCA: You're welcome.

SIEGEL: That's NPR's Joe Palca, talking with us about the Human Genome Project.

You're listening to ALL THINGS CONSIDERED from NPR News.

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