Wednesday, March 2, 2011

The Tang of old times: Human Genome Sequence spin-offs

When one is given NASA's list of the Great Achievements gained by going to the Moon, if you sort through the chaff, and the telegenic thrills, what you find is:  Tang and Teflon.  Yes, folks, your non-stick eggs and breakfast beverage (with its vitamins!) are what you or your parents paid for with their billions of tax dollars.

It's not that going to the Moon was bad, and in its time and context, as we ourselves remember, it was indeed exciting, and made us proud, and all that.  But the cogent question is in what ways it was worth the cost.  That's a tough one, because we're middle class and had no wants, and the entertainment and fascination were worth something to us.  In a time of truly ominous feeling, the Cold War, the moon landing gave us a sense of national security,  quality, and unity. But what else might have been done with the funds, that might have had more substantial, or long-lasting effects than the vitamins we dosed on each morning?

There's no answer to this question, and the money is spent so it's moot....unless we use it as a lesson going forward.  As an immediate example, NASA is reminding us of all of these Great Successes as it lobbies furiously for personed voyages to the Moon, to Mars, and in a story on the news last week, even to asteroids!  Wow!!

This week's analogously self-laudatory articles in Science raise memories of those old times.  It's the ongoing celebration of the Human Genome Project.  It is unquestionable that DNA sequencing has brought many advances in technology and some advances in knowledge.  But if you look closely at what the bragging articles are all about, much of it is about adding millimeters to the meters we already had measured--like tweaking the Tree of Life--or yet more promises that we'll soon have things like psychiatric diseases knocked, thanks to the human genome.  Of  course one major thing it has brought us, so far at least, is business for many corporations and employment for the expanded professor class--we say that satirically to an extent, but economically it hasn't been trivial.

It's unfair to criticize science for failure to cure all known human ills in the mere post-Genome decade.   Well, it's not really unfair given the culpably false promises on which it was launched and has been hyped ever since.

What is unfair is for Science to publish commentary after commentary by the people who have vested interests in genomic research, have been living on genome research funding and the like.  They have undeclared but profound conflicts of interest.  Few if any skeptical views are being included, that we've seen so far.

So Mary-Claire King lauds the 'Genome Project' for the ability to identify and then diagnose a mutation that leads to profound mental impairment, to prevent an affected child being born to a woman with 3 affected brothers.  First, the 'Genome Project' is only a symbol of the decade of research using whole genome sequence.  That's a trivial point, but one at least worth realizing.  Knowing 'the' human genome sequence didn't solve this particular family's problem.

More important than anecdotes, no matter how genuinely heart-warming, is to ask how much it cost to prevent one child from being born with such a profound trait.  Is it too much to say that the cost has been $1 billion if after all this feat is being touted because of the Genome Project?  That would actually seriously underestimate the background work required for the direct mapping and testing of the trait in this particular family (did the latter cost, say $100,000?).   Or why not count all the cytogenetics and other work for the past 100 years, without which there'd be no Genome Project?  Now, on its own merits, it would seem quite cruel to say that $100,000 is too great a price to pay for this fantastically good result for this one family.  But that is a very unfair way to look at it, and here's a much fairer way:

How many lives could have been improved if $100,000 (or $1 billion) had been spent in other ways that are known to be beneficent, to make lives markedly better, and the like?  There are many ways to reckon this (nutrition or exercise programs, all sorts of amniocentesis tests that don't require exotic genome sequencing, and so on).  The point is not to belittle a very fine result, but to point out that it is rather wrong not also to ask the question: what else might have been done?

Of course, one can argue that genome research will continue to pay off in good ways, amortizing the per-case cost, and that is clearly going to be the case.  But it won't answer the question as to whether other ways to spend the funds would have, and/or could still have, more bang for the buck than extensive and expensive genomic approaches.  Those otherwise-spent costs could be amortized, too.  Even something as boring as childhood nutrition would benefit countless kids for the same cost, who would then themselves grow up to be more productive (repaying society for its investment many times over), some of whom would do research in their lives to further improve health, and so on.

Meanwhile, of course, the genomics interests aren't going to say that now that we've got where we are, let's stop spending so much on genomics research and turn research resources elsewhere: because one can always identify the next urgent genomics research question down the road that simply must be answered (oh, and in my lab, by the way, so please come across with the grants).

This calculus won't be done nor these questions seriously asked in mainstream discussions.  Because our society works the way it works, by lobbying and special interests.  We all know this, whether or not we like it, or whether it's a good or bad to allocate resources.  Instead, in true NASA fashion, we're told that now we have cheap sequencing so we can, fortunately to our great relief,  start pouring even more total resources into sequencing everybody for everything.  Rather than a restrained, sobered-up recognition of where genomics is, and isn't, relevant, and a strategic discussion of where best to put resources, it's Full Steam Ahead!

Hold on to your wallets!

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