More on the Prospects for Genomic Medicine
The Tenth Anniversary celebrations of the publication of the first drafts of the human genome continue. Science has added to the Special Series that began last week, and Nature has produced its own update to last year's special.
The Nature editorial tries to hit an optimistic note with the title "Best is yet to come" (the cover line, "The Future Is Bright" is even cheerier) but adds a cautionary subtitle: "Ten years after the human genome was sequenced, its promise is still to be fulfilled." To their credit, they acknowledge the hype of 2000–2001. Some of it was relatively innocuous, as when Michael Dexter, director of the Wellcome Trust, called the rough draft "the outstanding achievement, not only of our lifetime, but in terms of human history." Some was downright bizarre:
One of our editors, Henry Gee, penned a newspaper piece at the time [in the Guardian] that promised, by 2099, "genomics will allow us to alter entire organisms out of all recognition, to suit our needs and tastes ... [and] will allow us to fashion the human form into any conceivable shape. We will have extra limbs, if we want them—maybe even wings to fly."
The vision now presented is more prosaic, and undoubtedly more realistic. One valid point not made often enough is that the sequencing of the human genome "was in many ways a triumph for technology as much as it was for science." And the conclusion is:
For the genome sequence to be a true success, we must yet ensure that greater achievements are built on it.
How they hope to do this is the focus of "Charting a course for genomic medicine from base pairs to bedside," by Eric Green, Mark Gruyer & the National Human Genome Research Institute. (The web version is extraordinarily elaborate, with many links to boxes and figures; the pdf is easier to skim though not always as readable on-screen.) They suggest that we are barely beginning to understand the biology of disease, as opposed to the biology of genomes, and that "advancing the science of medicine" is unlikely to begin in this decade. "Improving the effectiveness of healthcare" is off in the open-ended future.
That paper is free access, as are some others, including a long review by Eric Lander, "Initial impact of the sequencing of the human genome." He cheerfully admits that much of what they thought they knew in 2000 was false, but remains indefatigably optimistic:
The genome is far more complex than imagined, but ultimately more comprehensible because the new insights help us to imagine how the genome could evolve and function.
And having imagined it, what shall we do? As some acerbic skeptics point out, the response to failed theories is always that we need more data. Others complain that Lander is too cavalier about the difficulties with "missing heritability" and the fundamental question of "genes for disease." To be fair, Lander has always warned about oversimplification, but he still seems entranced by the long-term goal of "genomics permeat[ing] clinical practice."
To get there, he insists that:
We will need to engage in large-scale design, using synthetic biology to create, test and iteratively refine regulatory elements. Only when we can write regulatory elements de novo will we truly understand how they work.
Here we go again. It seems that the engineer's philosophy has taken over science. Deconstructing the genome into its component parts did not work as expected, so now the plan is to replicate its function from scratch? That'll be hard. It may not be impossible, but is this really the best use of resources to promote individual and collective health?
Previously on Biopolitical Times: