The human genome ten years on (part 2) – it ain’t necessarily so

by Greg Mayer

In a post a couple of months ago, Matthew took note of the tenth anniversary of the completion of the draft human genome, noting that Nature had published a retrospective.  Matthew rightfully took issue with the dreadful “blueprint” metaphor for the genome, but also concisely noted the meager medical results:

…despite all the hype, the contribution of the genome to human health has been pretty negligible. In other words, from a purely medical point of view, there isn’t much to celebrate.

In yesterday’s New York Times, Nicholas Wade provides a journalistic analysis, and confirms that the results so far are disappointing. Money quote:

…the primary goal of the $3 billion Human Genome Project — to ferret out the genetic roots of common diseases like cancer and Alzheimer’s and then generate treatments — remains largely elusive. Indeed, after 10 years of effort, geneticists are almost back to square one in knowing where to look for the roots of common disease.

This does not come as much of a surprise when you realize that most diseases are not genetically caused (in any straightforward reading of the word caused); that even when there is a genetic basis, the genetics are apt to be complex; and that even when simple, identification of a gene does not lead readily to a cure. These issues were raised most presciently by Dick Lewontin, especially in an essay-review (subscription required) he wrote for The New York Review of Books in 1992. Dick decried scientists’ selling the genome project to governments on the basis of its health benefits, while in fact the project would primarily advance disciplinary (and, in some cases, financial) interests. Endorsing Dick’s genetic arguments, I wrote the following in 2000, at the time of the announcement by Bill Clinton and Tony Blair:

Few diseases are caused by a “gene.” Most diseases, in fact, are caused by the invasion of the body by another organism (bacteria, viruses, protozoa). Our susceptibility and resistance to disease may often have a genetic basis, but these too are usually the result of multiple genes in interaction with the environment. Even when a disease does have a singular genetic cause, finding the gene does not necessarily lead easily to treatment or prevention (e.g. cystic fibrosis).

Last year, over at Mermaid’s Tale (in a post I noted here at WEIT), Ken Weiss put it succinctly (he also discusses Wade’s new NYT article here):

…most common diseases have little to do with genetic variation in any sensible way.

The genome project has provided much useful scientific information. As Wade notes, “For biologists, the genome has yielded one insightful surprise after another.” But that’s not why the project was done. Bill Clinton said it would lead to treatments for “most, if not all, human diseases”; Francis Collins said we’d have genetic diagnosis of diseases within ten years. The genome project’s architects oversold it’s medical (not to mention philosophical) benefits, and now scientists (or at least genome scientists) will lose credibility because of it. Harold Varmus is quoted by Wade as saying “Genomics is a way to do science, not medicine.” If only that had been said louder, and earlier, and by more people.

[PZ and some others are taking Wade to task for saying “humans… [are] higher on the evolutionary scale”. While this is an inopportune use of the scala naturae, it’s part of one paragraph (which does make the interesting point that genome size, as measured by number of protein coding genes, does not vary very widely among metazoans), and does not detract at all from the main thrust of the article.]

10 Comments

  1. Posted June 14, 2010 at 11:59 am | Permalink

    Most of us knew that Lewontin was right. We were hoping that genome sequences would advance science. not medicine.

    One of the benefits of having hundreds of genomes is that we have much better understanding of evolution and a much better understanding of how genes work.

    Nicholas Wade has not assimilated the science and that’s very disappointing. Instead, he focuses on the fact that knowledge of the human genome has not cured cancer. Not only has he missed the real story (the actual science) but he’s also fallen for the cover story.

    A really good science writer would be writing about the deliberate misrepresentation of the goals of the human genome project instead of the fact that those goals weren’t met.

  2. Sajanas
    Posted June 14, 2010 at 12:09 pm | Permalink

    It seems a little stupid to say “We spent so much on a tool that produced no benefits”, when scientists are still coming to grips with the sheer volume of information that was generated. Especially when the free availability of the human genome sequence informs on *Every* single scientific development in biology since it was finished. The ability to look up a gene sequence instead of having to do painstaking cloning and sequencing that someone else may have done has made research easier for pretty much every molecular biologist I’ve known, and I do it several times a day. I think its hard to put a price tag on that sort of scientific utility.

  3. gillt
    Posted June 14, 2010 at 12:29 pm | Permalink

    Ken Weiss
    “…most common diseases have little to do with genetic variation in any sensible way.”

    I assume he means infectious disease.

  4. Posted June 14, 2010 at 12:41 pm | Permalink

    When I read it Sunday morning, I felt Wade’s article was overall okay (though I thoroughly cringed at the “evolutionary scale” clunker as well), but the point that the genome project was over/improperly sold needed to be given more prominence. If you read the whole article and are someone who thinks carefully about things, you will most definitely not come away with the impression that the HGP was a failure. But if you read only the headline, or you think about as hard as the average person does, you might very well get that impression.

    Whether Wade’s intention was to paint the HGP negatively, or if it was an editorial issue, is not clear to me.

  5. Neil
    Posted June 14, 2010 at 10:20 pm | Permalink

    It is understood that pathogens, not genes, are the primary disease causing agents. But certainly the taxpayers were sold on the HGP by extravagant promises of health benefits, primarily in terms of new pharmaceuticals and preventive health measures. What has been the progress on those fronts?

  6. Posted June 15, 2010 at 5:01 am | Permalink

    Bill Clinton and Tony Blair, politicians, making pronouncements about something they know [almost] nothing about? Surely not!

    And we are “surprised” when they were wrong?

    I’m just far to cynical I suppose.

    Cheers,
    Norm.

    • Posted June 15, 2010 at 5:01 am | Permalink

      Sorry, spelling. “to cynical” should be “too cynical”.

  7. Sigmund
    Posted June 15, 2010 at 7:42 am | Permalink

    The human genome project has been an enormous success in the use of public funds to produce basic science.
    It HAS led to tests for numerous genetic diseases and allowed us a glimpse into the molecular biology underlying these diseases – an essential element in devising proper treatments. It has been essential in the development of rapid sequencing techniques that have been used in tracking HIV, SARS, bird flu and the recent swine flu epidemics. It has led to the field of transcriptomics – allowing us to see how networks of genes interact within individual tissues under various environmental conditions and stimuli. It has led to the better diagnosis of cancers, allowing for more appropriate treatments and better survival for patients. It has led to new ways of screening novel compounds for therapeutic effects – and new ways of screening genes for biological functions. The results of the various genome projects have revealed the best evidence for evolution and common descent to date. You could lose every fossil we’ve ever collected and all evidence from biogeography and comparative biology and the genome sequence produced in the past 15 years would still provide overwhelming evidence of evolution.
    OK, thats the human genome project.
    Now, what have the Romans ever done for us?

    • whyevolutionistrue
      Posted June 15, 2010 at 9:41 am | Permalink

      The aqueducts, the roads… 😉
      Wade did give almost equal attention in his article to the scientific advances resulting from genomics, but there has not been the promised medical revolution. As Lewontin wrote in 1992, “Of course, intimate knowledge of the living cell and of basic molecular processes may be useful eventually…”.
      GCM

  8. Posted June 16, 2010 at 7:52 pm | Permalink

    For someone who gets a lot of bylines by writing about genomics and genome-based medical advances, Mr. Wade has an appallingly bad grasp of the HGP’s scope and it’s evolution in the last decade (his grasp of basic scientific concepts leaves a lot to be desired too). My objections to his allegations, as well as similar ones made by Newsweek’s Sharon Begley, are here: http://mattersoflifeandtech.wordpress.com/2010/06/15/10-year-old-human-genome-feels-the-weight-of-false-expectations/


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