Still Waiting for the Genomic Revolution in Medicine

Posted by Pete Shanks February 8, 2011
Biopolitical Times
The Feb. 2001 covers

On June 26, 2000, President Clinton, Prime Minister Blair, Craig Venter, Francis Collins and a cast of thousands announced the completion of the first draft of the Human Genome Project. The tenth anniversary passed last year, with relatively little hoopla, though Nature did produce a Special called "The Human Genome at Ten" which for some reason appeared in March, 2010.

On February 15 and 16, 2001, came the publication of the scientific papers: One was in Nature, by Eric Lander and dozens of coauthors (including Collins), the other in Science, by Venter et al. Both journals produced special issues, freely available online even to non-subscribers, with commentary and related papers. So here's a second tenth anniversary.

This time, it's Science that's doing the commemorating, with a Special Series. Some of the features are again available to non-subscribers. There are short essays by several interesting experts, including Venter ("we still have a long way to go") and Collins, who is more upbeat, claiming that:

Real faces are now appearing that demonstrate the medical value of comprehensive genome sequencing.

Even Collins admits that we may have to wait for the 20th anniversary "to look at a world filled with the faces of people whose health has been improved by the sequencing of their genomes" but he insists that "the once-hypothetical medical benefits of individual genome sequencing are beginning to be realized in the clinic."

Behind the pay wall, however, is an interesting article by the Deputy News Editor of Science, Eliot Marshall. It's titled "Waiting for the Revolution" and asks the "tough questions":

Is the translation of DNA research into medical practice taking longer than expected? Has the genomic medicine revolution faltered?

Some researchers, he reports, blame the medical establishment for being "sclerotic" and thus slow to change. But most doctors still "have trouble seeing how [the genomic revolution] will benefit their patients." The Centers for Disease Control and Prevention (CDC) established a working group expressively called Evaluation of Genomic Applications in Practice and Prevention (EGAPP). Thus far:

All but one of EGAPP's reviews have been unfavorable or neutral, generally because the panel didn't see evidence of a health benefit.

There seems to be a vague consensus that genetic tests will eventually be useful, and that patients will ultimately somehow benefit from genome sequencing. However, Marshall concludes, quoting a researcher who is also a doctor, the change is not coming like a tsunami, more as a "slowly rising tide."

Similar or greater skepticism was evident in the media coverage of last year's anniversary (for example, here and here).

Back in 2001, Nature ran an article with a somewhat similar title, "Are You Ready for the Revolution?" That one focused on the then-new computational tools that deal with genomic databases. Looking back after a decade, it holds up quite well. But the revolution in medicine, as opposed to research, still seems a little distant.

There is yet another tenth anniversary on the way: The Human Genome Project was not declared complete until April 14, 2003. (And even now, the work isn't finished.) What are the chances that genomics will really be integrated in clinical practice by the tenth anniversary of even the third tenth anniversary?

Previously on Biopolitical Times: