BioWorld Today Columnist

It's been 10 years since teams from the government-funded Human Genome Project and their private-sector counterparts reported the completion of a rough draft of the human genome. And the question now being asked around the industry and in the media is, did it live up to its promise?

Unfortunately, this makes for a fairly disappointing debate, because the answer is pretty obviously no: It didn't live up to its promise, because some pretty big and ultimately unrealistic promises were made. The project was sold in large part as a way to revolutionize the practice of medicine. We were led to expect new disease cures, and on that front, the last decade has been a disappointment.

That's been pretty well summed up elsewhere. In the New York Times, Nicholas Wade recently noted that "after 10 years of effort, geneticists are almost back to square one in knowing where to look for the roots of common disease."

Harold Varmus, president of the Memorial Sloan-Kettering Cancer Center and soon-to-be director of the National Cancer Institute, was more specific in a recent editorial for the New England Journal of Medicine: "[O]nly a handful of major changes – some gene-specific treatments for a few cancers, some novel therapies for a few mendelian traits, and some strong genetic markers for assessing drug responsiveness, risk of disease, or risk of disease progression – have entered routine medical practice."

But maybe we're asking the wrong question. Rather than asking if the Human Genome Project lived up to some probably ill-advised promises, perhaps we should instead ask if it was worthwhile.

The answer there is a resounding yes, on a number of levels. Like many things, language may have been the undoing of the Human Genome Project's image. Calling the genome the "blueprint" for life implied that if we could only get our hands on it, it would reveal all the important details of how a human is made and what can go wrong. Many scientists thought all along the payoff would be more in the advancement of science than in medicine, and in that regard, the project has indeed unlocked a treasure trove of insight and information (as Wade suggested in his NYT piece). But champions of the project sold it very differently back in the 1990s, in part because they were eager to ensure federal funding, and the idea that cures were around the corner was an easy way to get legislators and the public on board.

To be fair, many scientists did believe that the Human Genome Project would yield major medical advancements in relatively short order. But there were plenty of voices suggesting that such advances would be slow in coming, and more suggesting that disease cures would at least not be the primary dividend of the project.

Far From a Failure

Yet even if we leave aside our vastly better understanding of human biology and evolution and judge the Human Genome Project in terms of medical advancements, it's been far from a failure. When you consider that a new drug often takes 10 years and $1 billion to develop, a program that took 10 years and cost $3 billion . . . and directly or indirectly helped create even a mere handful of diagnostics and drugs . . . certainly isn't way outside of industry norms. And it has to be noted that The Human Genome Project was completed well under budget and ahead of schedule – a rare beast in any industry, much less from a government-sponsored program.

But its real value is in having taken the first necessary tugs at the Gordian knot that is human biology. Those attending closely began doubting promises of amazing new cures 10 years ago, when the draft came out. The number of human genes uncovered was not that different from the number of genes in a worm or mouse. There was a sort of collective umbrage taken that our presumed superiority wasn't reflected in a higher count of unique coded proteins, and some observers began to suspect that the key to many diseases might lie somewhere else. Most genes, it appears, are pretty critical to the structure and maintenance of life. A lot of variation or mutation simply makes a life form unviable.

Now the common wisdom is that many diseases find their origin in either the regulatory mechanisms of gene expression, in RNA changes that take place outside the genome, or in multiple, rare mutations.

A 10,000 Human Genome Project

To peel back the next layer, we need the genome of not one human or a dozen humans, but tens of thousands or more. If you'd said that 10 years ago, researchers would have thrown up their hands in despair. But because of advances in sequencing technology – which happened, in no small part, because of the Human Genome Project – that's now a realistic ambition. Indeed, even if a complete genome costs $10,000 today – and prices have already dropped below that threshold and are continuing to decline – a 10,000 Human Genomes Project would require only $100 million in direct resources. A drop in the pan compared to the original effort.

A 10,000 Genome Project would be, I believe, a very worthy use of public research funding, but as far as I know it is not even being considered here. Yet this month, the Wellcome Trust Sanger Institute in the UK launched exactly that – a project to sequence 10,000 human genomes. The Sanger Institute participated in the original Human Genome Project, of course, but this is being informally called the UK10K project, as if to underscore the lack of participation from the U.S. One can only speculate that the current urge to label the Human Genome Project as a disappointment contributes to the U.S. losing the initiative in moving forward.

The real failure of the Human Genome Project was in public relations. Champions of the project who stressed potential medical advances chose a successful tactic at the time, but we're paying the price now. Perhaps it should have been sold as something more akin to the Apollo 11 mission that landed the first man on the moon. Nobody expected near-term, direct, tangible benefits from Apollo 11; it was an expression of national pride and of what our science had already achieved. And the U.S. public overwhelmingly supported it.

Now, when we have the potential for a much cheaper follow-on project that really could move us closer to significant and numerous medical advances, it seems like all we have are regrets.

Karl Thiel, an analyst for the Motley Fool, can be reached at kthiel@qwest.net. His opinions do not necessarily reflect those of BioWorld Today.