The 10-year-old Human Genome Project has only just begun to bring to fruition its promise to transform medicine…
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.
Isn’t that a pundit-based specialty?
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…
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…
“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.
Couldn’t agree more. We always hope for more than just plain good news. In part, let’s face it, because of our mortality.
But, real science requires proofs and testing, peer review and more testing. There is no easy way around sound methods. And, of course, if results aren’t forthcoming quickly enough to satisfy Reality TV and beancounters – whining is the result.