Francis Collins, who led the U.S. component of the project and is now director of the U.S. National Institutes of Health, said that although it may seem that the revolution promised with the publication of the first draft in 2000 is slow in coming, many early predictions had been prematurely hyped.
Scientists have barely scratched below the surface of the possibilities opened up by having access to the whole human gene map, he said, and when they do, their results will determine the way all people are diagnosed and treated for diseases.
It's fair to say that most people have not yet had the experience of having their personal medical care directly affected by the sequencing of the human genome, Francis told a briefing in London marking the project's 10-year anniversary.
So while one might argue that the consequences have not come across in the first 10 years in the most dramatic form that some predictors put forward in the year 2000, I think the predictions ... were probably a bit overblown.
Mike Stratton, another of the project's founders and now director of Britain's influential Sanger Institute, pointed to several areas of disease where big medical advances had already come about thanks to the ability to read the map of human life.
Cancer drugs, like so-called BRAF inhibitors for malignant melanoma skin cancers -- versions of which are being developed by drugmakers including Switzerland's Roche and Britain's GlaxoSmithKline -- were examples how quickly gene sequencing had given birth to targeted treatments, he said.
It has taken (only) eight years for a drug to be developed ... then to be put into clinical trials and to be shown to work, he said. And it works in a cancer that was otherwise untreatable. That's an illustration of what is possible.
The genome founders also noted that scientists had already found more than 800 genetic variants that play a role in risks of common illnesses like heart disease, cancers and diabetes.
Those are shining new light into the way those diseases come about, with implications for both prevention and (drug) therapies, said Collins.
The scientists' comments were echoed in the drug industry, where Glaxo's chief executive Andrew Witty said that reaping the benefits of genome research was always going to be a long haul.
The great mistake everybody made was thinking that the decoding of the genome would somehow yield a drug. It's got nothing to do with yielding a drug -- it's got everything to do with yielding a whole array of components and ways of looking at a problem which, together with other things, will yield drugs. It's going to take time, he told reporters earlier this week.
But Collins said he had no doubt the project would live up to its potential:
When a truly transformative advance occurs in science, inevitably there will be in the short term an overly optimistic set of predictions, he said. But in the long term...the consequences will turn out to have been underestimated. I think that will...be true of the Human Genome Project.
I think we will see in the next 10 or 20 years a virtual revolution in medicine -- in prevention, in the choice of the right drug for the right person at the right time, and in the development of entirely new drugs.