Genomycism: "Deflating The Genomic Bubble"
    By Josh Witten | February 18th 2011 05:45 AM | 4 comments | Print | E-mail | Track Comments
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    Genomycism - the unsubstantiated belief that the cataloging of the genomic sequence of an individual conveys useful understanding about their ancestry, current characteristics, and disease risk with high degrees of accuracy and predictive power.

    An important policy forum article has appeared in the most recent issue of Science discussing the expectations for the benefits of genomics, the issues created when those expectations are unrealistic, overinflated, and over-hyped[1].
    If we fail to evaluate the considerable promise of genomics through a realistic lens, exaggerated expectations will undermine its legitimacy (9), threaten its sustainability, and result in misallocation of resources. Fueling unrealistic expectations for predictive genetic testing and uncritical translation of discoveries may also distract our gaze from other promising approaches to preventing disease and improving health.- James P. Evans, Eric M. Meslin, Theresa M. Marteau, and Timothy Caulfield
    The authors identify several areas in which unrealistic expectations act as barriers to progress. I'll briefly paraphrase them here, for those of you who cannot access the article (those of you who can should read their arguments in full):
    1. Low relative risk from individual genetic variants is not practically useful in the clinic.
    2. Small differences in risk for common diseases makes interventions for everyone more practical and effective than genotype specific interventions.
    3. Hard to make genomics-based lifestyle changes, because people don't readily change behaviors.
    4. If genomic information is more effective in motivating behavior change than other medical information, then genomic misinformation may be proportionately more damaging than other medical misinformation.
    5. Messy translation of science from lab to clinic.
    The authors conclude by suggesting that we need to reevaluate our research and funding priorities based on realistic expectations and promises for genomics.


    [1] Deflating the Genomic Bubble. J. P. Evans, E. M. Meslin, T. M. Marteau, T. Caulfield(2011). Science 331 (6019) p. 861-862.


    Gerhard Adam
    It's interesting that this point should come up, because it's one of the primary criticisms I have regarding scientific work today.  There's an expectation that science is no longer about gathering information or acquiring knowledge, but rather about finding specific applications that can be readily converted into benefits or industries.

    It should be abundantly clear that there is no such thing as "wasted knowledge" since everything we learn (including when we are wrong) helps us move forward to promote a better understanding of how the world works. 

    There's no question that some of the problem is that hype gets introduced because funding is necessary, so science becomes as involved in marketing and sales as any other group that needs money.  However, if this problem isn't addressed, then it won't be long before scientific research will be conducted on the results it produces quarter to quarter, just as our insane stock market determines what constitutes good business behavior.  There simply becomes no room for the "long-term" objectives of anything.
    Mundus vult decipi
    There are wasted resources, which is really the issue here.
    In fairness, just this once, to the media, the public and policy makers, when these projects under criticism were originally being funded, biologists had no problem at all with hype about cures for cancer, etc. that would result if they could just get money.   It's only in the last year when people started matching expenditures to results that some calls for lower expectations were made.

    In fairness to biologists, though, no one hypes like astronomy - virtually every multi-billion project is going to be late and 3X over budget but the claims about what it will do are literally out of this world.
    Actually, none of these critiques are particularly new. Media and policy makers and other scientists need to be held accountable for not listening to the debate, but only a few very optimistic individuals.