Well, the piling on the human genome project continues, it seems at an accelerating pace. I think most of this comes from the fact that we are in the range of the 10 year anniversary right now. Here are some examples of recent stories suggesting the human genome project (or projects, if you count the public effort and Craig Venter’s effort as separate) have had little benefit:
- 7/31/10: The Human Genome Project: 10 Years Later, Progress but Still a Puzzle – WNYC. Interesting piece by Sarah Kate Kramer discussing the limited clinical value of the HGP. Includes some criticisms of personalized genomic medicine.
- 7/29/10: Spiegel interview with Craig Venter with the headline “We have learned nothing from the genome”. Has lots of interesting tidbits. Love the Venter line “Well, nobody likes to be beaten — by superior intelligence, planning and technology. That gets people upset.” But I note Craig emphasizes the basic science value of human genome data.
- 7/6/10: Public Radio mini story about Mike Mandel’s article on the failure of the human genome project.
- 6/12/10: Nick Wade’s NY Times article on “A decade later, genetic map yields few new cures“. In this Wade discusses many of the issues with both the sequencing of the human genome and some of the spinoff projects (and also butchers some evolutionary biology for which I gave him a twisted tree of life award).
Certainly, contrary to the suggestion of some of these articles, there have been some practical benefits that have come directly or indirectly from human genome sequencing. But equally certainly, these critiques have a segment of truth to them in that the practical benefits have been few and far between.
Normally, one would not expect too many direct practical benefit to come from this kind of science project. But alas, the problem here is that many of the key players (e.g., Eric Lander, Francis Collins, Craig Venter) in the sequencing of the human genome(s) oversold the potential benefits that could come from the sequencing. In a way, it was their job to oversell the sequencing, since each was a cheerleader in ways for getting others to do a lot of work.
Many people knew at the time that this overselling was going on. It was talked about extensively at various genome conferences and even occasionally in the press and scientific literature (boy do I wish I had had a blog then, because I was one of those people at conferences practically begging people to not oversell the benefits of the project – I now even give out an “overselling genomics award” on my blog ). The cautionary voices were mainly saying that there was no need to oversell the project and that we should stick to the benefits of “knowing” ourselves and not guess about how it will lead to immediate cures for diseases. And many said “If you oversell this now, it will come back to bite you“
The problem here is that the human genome project should never have been sold as a means to a series of practical ends. It should have been sold as a massive basic science project, much like going to the moon or building a giant linear accelerator. That is, the human genome project was, and still really is, about knowledge. It is about knowing ourselves. It has enormous potential benefits in all sorts of areas, like human medicine. It should greatly aid and abet studies of human biology and genetics and disease. But given that benefits that come from such studies are impossible to predict, the human genome project should have been presented in a different way. We need to discuss more in public why basic science is important even if one cannot predict what the benefits are.
In many ways, this is very much like the “war on cancer” which some have argued failed because we still have cancer killing a lot of people. But this is off base because in fact the war on cancer has provided us with an incredible baseline of information about the biology of cancer. We need to do a better job in all of these cases of defending the need for knowledge, and discussing how fighting cancer and curing diseases is not the same as building a big bridge or road.
The best person discussing this issue for the last ten or so years in my opinion has been Harold Varmus, who was once the head of NIH and is now the new director of the National Cancer Institute. I have heard him repeatedly defending the “war on cancer” in terms of its basic science benefits. For example see his comments on Science Friday 1/30/2009 and 7/16/2010. There just have not been too many people doing a good job of this with genomics. Venter and Collins have been OK here and there. But we need more.
On a related note, we probably should have more discussion about how the money spent on the genome project and the war on cancer pales in comparison to money we spend on other things (e.g., interest on the national dept, wars, etc) but perhaps that is a side discussion.
Most importantly, we need to bring out to the public more of a discussion of the benefits from basic science. Here are some useful resources if you want to try and help:
- CERN – Benefits of basic science
- The unexpected benefits of basic science
- Inquiring Minds
- Beyond Discovery
- Remarks by the President at the National Academy of Sciences
- In Defense Of Basic Science : NPR
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Jonathan Eisen's Lab 
Craig managed to get in some amusing digs in at Watson and Collins in that interview as well. The whole idea of the very elderly Watson worrying about whether he is carrying a disease-associated gene variant is pretty silly if you think about it (even ignoring the fact that such variants are not guarantees of eventual illness)
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For some reason basic scientist axiomatically assume that basic science is important so maybe it is not overselling but self-deception and wishful-thinking?
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JB – do you know if their is a video to go with Craig's interview?
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Diffusing thoughts – alas – you are right at some level. I think perhaps sometimes there is a lot of wishful thinking and self deception about the potential benefits. I have been quite critical for example, of people who make some basic science finding and then write a press release to go with it that makes such wishful thinking claims. However, that being said, it is pretty well established that their are strong economic and other benefits that come from investment in basic science. This does not mean all basic science is equivalent, and in fact, most funding agencies try to judge basic science proposals in advance in some way by supposed connections to potential benefits (e.g., there is more basic science work on humans than on any other organism).
I note, this is also one of the reasons I have been pushing hard for more openness in basic science research. The more we share findings, materials, results, knowledge, etc., the more likely it is that basic research will be additive and that in the end we will get both more knowledge and more potential benefits.
So I agree there is too much of an assumption some of the time of the importance. But on the other hand, the value of basic science research has been shown repeatedly so pursuit of knowledge in general is a good thing.
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JE — Not as far as I can tell. Too bad.
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This same argument applies to NASA's space shuttle program, in my mind. It's not directed towards developing specific technological spin-offs, and so its funding is cut. While it was active, however, it was a great way to explore questions of basic science, and to encourage interest in basic science about space. Now we won't have that.
More generally, basic science pays off because it makes applied science possible. Electronics could not be developed without the basic science branch of physics, nor theoretical mathematics, for example.
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Thanks for this thoughtful, balanced piece. As an oncologist, former researcher and cancer patient, I know there's value in the genome project. In my view, some problems recently highlighted in the news stem from profit-driven enterprises that have fed on patients' and doctors' lack of understanding about the limits of genetics, besides some genuine optimism.
Hopefully in the next decades the “good stuff” – real science that matters in medicine – will emerge from the genome project. Like the “war on cancer,” as you point out, progress takes some trial and error, besides time.
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Ugg. I hate all this talk of the HGP being oversold. And Craig's comments…he is basically saying 'yeah I lied to you all' With out the government funding of HGP Craig would never have been able to do his shotgun sequencing. Prices and technology would never had made it possible to sequence a viral genome let alone a human genome. We would be in the dark ages without PCR, microarrays… There are so many biotech and pharma companies that use seq technology now for diagnostics and drug discovery. I'd like to see the economic figures, how much money and jobs do all these new biotech companies contribute? Maybe we haven't cured cancer, but at least now we know it is going to be much harder than we ever thought to cure cancer!
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