In 2003, after 13 years of research, the Human Genome Project (HGP) was completed. On the one hand, it was heralded as a major scientific breakthrough, and a landmark in our biological understanding; on the other, it was criticised on ethical and other grounds, and accused of being radically less valuable than had been claimed, most consistently by evolutionary geneticist and philosopher of science Richard Lewontin. Bill Clinton lyrically described the goal of the project as “learning the language in which God created life”, but five years after completion, what exactly have we learned?

Like Lewontin, I was highly sceptical of the value of the Human Genome Project, which seemed to be woefully naïve in its assessment of what was being attempted, although ultimately it seems some good has come from the $2.7 billion project – but not so much of the kind that its advocates advanced at the time. The HGP has hammered fresh nails into the coffin of naïve belief in genetic determinism and dogmatic adaptionist philosophies, and undermined the assumptions that motivated the research in the first place. I consider this to be a great success in terms of philosophy of science!

I originally intended to title this piece, rather cryptically: “One Down, Four Billion to Go”, since a first and obvious criticism of the HGP is that it doesn’t map the human genome, it maps a human genome. Much of the DNA for the public project came from an anonymous male donor from Buffalo, New York, codenamed RP11. One wag noted in respect of the project that once all the chromosomes were fully mapped and sequenced “they'll tell us everything there is to know about one French farmer and a lady from Philadelphia.” We can’t claim to have complete human genetic knowledge until we’ve mapped a reasonable sample size, and that isn’t what’s been done. In fact, because of the genetic variation between individuals, there simply can’t be one definitive human sequence – and suggesting there can be creates serious questions about an appropriate definition for what should be considered ‘normal’.

But that’s just the tip of the iceberg when it comes to issues. The HGP claims to map a complete genome, but in fact what it has focused upon is identifying the 20-25 thousand genes present in DNA – and this isn’t necessarily the same as the complete genome. In fact, it’s about 5% of the genetic data. Some scientists, secure in their beliefs concerning genes, think this is sufficient, but this rests on very simplistic ideas about DNA. The non-coding regions, conventionally dismissed as “junk DNA” actually serve very important roles. Putting aside the putative role in the creation of new genes I have touted previously, the non-coding DNA contains many regulatory signals that are vital to understanding the relevant biology.

To cast light upon some of the major misconceptions, I’d like to make an analogy between the data contained within DNA and a telephone directory. Mapping the genetic data is much like collating a list of telephone numbers – that volume of data is certainly useful, when you know what it’s for. But having a human gene sequence without the biological knowledge to go with it is like publishing a telephone directory without inventing the telephone. Actually, if you examine some of the bizarrely optimistic claims concerning the possibilities of genetic engineering that might be unlocked by the Human Genome Project, the metaphor becomes something like the belief that one can work out how to build a telephone by studying the telephone directory.

There's a similar problem here to the one I discussed previously concerning genes and behaviour: scientists had ideas about inheritance prior to Watson and Crick discovering the DNA double helix, then assumed that genes would explain everything that was known about inheritance. This has lead to what Lewontin has called “the doctrine of DNA” – a belief that genes are the ultimate explanatory device, and that genes can be linked to everything in biology, psychology and beyond, that deciphering the genetic code gives us the knowledge to program our own organisms. He parodies this by saying: “Any computer that did as poor a job of computation as an organism does from its genetic ‘program’ would immediately be thrown into the trash and its manufacturer would be sued by the purchaser.”

The genetic engineering we are currently conducting is not really akin to what a programmer does in writing a functioning utility; it is much more like what a hacker does when they subvert an existing utility they didn’t write, and don’t necessarily understand. There are serious ethical issues surrounding modern genetics that stretch far beyond just the Human Genome Project. David Heyd noted that: “tampering with the natural biological process of species evolution and individual evolution… [is] a form of metaphysical trespass.” The Senior Editor of Science, Barbara Jasny, admitted that “the Human Genome Project [stretches] the limits of the technology and the limits of our ability to ethically and rationally apply genetic information to our lives.”

Abby Littman of Montreal’s McGill University is another outspoken critic of the project. She contends that “Everything that's been done so far is about managing the genome project instead of questioning the whole issue of whether there should be a human genome project.” She accuses the molecular geneticists involves of focussing on the wrong part of the problem if the goal is better health, and of not having adequate public consultation on the project. She asks:

Why are we so busy mapping the genome? Why don't we map the environment instead of mapping the genome and worry about things that really make us sick that we don't know anything about? Why do we think it's so much easier to change genes than environmental conditions that put us at risk? Because it's more expensive to clean up the environment than to deal with people who are at medical risk because of the environment.



Her view is that most human disabilities happen after we are born, and are caused by accidents, injuries or environmental factors. She also questions the eugenic implications of this kind of project: “Do we want to live in a society where nobody is born with Down's syndrome? If so, why? That's an ultimate aim of these tests. Does this make us a better society? I'd like to make geneticists think about these questions as they do their work.”

If the critics are correct that the health benefits of the HGP to the public are far lower than has been suggested, who are the benefactors of this research? One obvious candidate is biotechnology and pharmaceutical companies. Lewontin notes: “No prominent molecular biologist of my acquaintance is without a financial stake in the biotechnology business.” The data produced by this research could have been extremely valuable to pharmaceutical companies as a potential source of new drugs, and to other biotech companies, but even this value appears to be less than was anticipated. Craig Venter, the president of Celera, the company which conducted the private portion of the genome mapping, stated that “the drug industry has been saying 'one gene, one patent, one drug', but the uses for this approach can be counted on the fingers… The notion that one gene equals one disease, or that one gene produces one key protein, is flying out of the window.”

A more likely benefactor from the research are health insurance companies, who can potentially use information obtained from a sample of DNA to reject people who show genetic predisposition to certain medical conditions. Thomas Murray suggests that “the most important movement in the ethics of workplace genetic testing has been away from the original vision of a public health measure, to screening as a way of reducing illness-related costs with no effect on the overall incidence of disease.” So now we are looking at the Human Genome Project not as a great advance in health care, but as a means of insurance companies denying medical cover – the health benefits for the general public are thus worse than they were before the project began.

All this makes it sound that nothing good has come from the Human Genome Project, but as I said earlier there is a significant silver lining: by exposing the naivety of overly simplistic interpretations of genetics, the HGP has helped improve our understanding of biology by undermining old fashioned deterministic models. Venter notes, in assessing the impact of the project his company has assisted in completing:



There are two fallacies to be avoided: determinism, the idea that all characteristics of a person are hard-wired by the genome; and reductionism, that now the human genome is completely known it is just a matter of time before our understanding of gene functions and interactions will provide a complete causal description of human variability. In everyday language the talk is about a gene for this and a gene for that. We are now finding that that is rarely so. The number of genes that work in that way can almost be counted on your fingers, because we are just not hard-wired in that way.

We have learned that organic biochemistry is not as simple as dialing a telephone number. There are complex multi-dimensional relationships between the tens of thousands of genes involved in building and regulating our bodies, and these can only be fully understood when taken also in the context of the conditions we live in. To understand an organism requires more than a knowledge of its genes, we must know how those genes interact (something we barely understand) and how those interactions relate to the organism’s environment. The assumption of the linear influence of individual genes has suffered a fatal, yet long overdue, blow. Critics of the Human Genome Project have been saying this for decades now, but the biotechnology community has simply ignored the practical – and ethical – implications of their work, in the blind lust for either knowledge, money, or both.

A statement issued by Celera in 2001 admitted “because of the relatively low number of genes… it will be necessary to look elsewhere for the mechanisms that generate the complexities inherent in human development.” Responding to this, Ari Patrinos of the US Department of Energy (who funded much of the public research) said: “It’s kind of humbling, isn’t it?” Any project that can inspire a meek outlook among scientists is certainly exceptional, but at a cost of $2.7 billion I can’t help but wish that there were cheaper ways of teaching humility to the scientific community.