In a wiser world, we would see genetics research as we see astronomy: worth supporting, but without expecting practical benefit. In this world, however, genetics research is far better funded than astronomy and is expected to have practical benefits.
Unfortunately, the benefits have been slight. A New York Times article by Nicholas Wade makes this clear:
The primary goal of the $3 billion Human Genome Project â€” to ferret out the genetic roots of common diseases likeand and then generate treatments â€” 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.
“Largely” elusive? Completely elusive is more accurate, as far as I know. Not one treatment has come from this work.
In spite of ten years of failure, geneticists appear no wiser than before:
With most diseases, the common variants have turned out to explain just a fraction of the genetic risk. It now seems more likely [to prominent geneticists] that each common disease is mostly caused by large numbers of rare variants.
I know of no examples where a common (or any) disease has been shown to be caused by “large numbers of rare variants.” Perhaps these estimates of “genetic risk” are as misleading as asking what percentage of the area of a rectangle is determined by its width.
History repeats. Ten years ago, geneticists had zero examples of how mapping the human genome would help anyone with a common disease. Absence of any examples didn’t prevent such vast claims as human genome mapping will “â€œrevolutionize the diagnosis, prevention and treatment of most, if not all, human diseases”. From zero, they extrapolated to “most”.
It’s a sad comment on science journalism that, at the time, no one pointed out the absence of examples, as far as I know, and a sad comment on Wade, holder of a powerful and prestigious job, that he has not pointed it out now. He simply repeats a claim. At least he has noticed a gigantic failure after it happens, even if he inaccurately describes it (“largely” rather than “completely”).
Lack of examples of the practical value of genetic mapping didn’t keep a huge amount of money from being spent.
With the catalog [of common genetic variants] in hand, the second stage was to see if any of the variants were more common in the patients with a given disease than in healthy people. These studies required large numbers of patients and cost several million dollars apiece. Nearly 400 of them had been completed by 2009.
Ten failures would have been plenty; 400 failures shows the resistant-to-evidence nature of the whole enterprise. It’s an example of how a little biochemical-mechanism research goes a long way; a lot of biochemical-mechanism research goes a little way.
For geneticists, to acknowledge the lack of examples is scary. Their funding might be cut! So they don’t. But nothing prevents journalists from thinking for themselves and asking a supposedly “tough” question (“what’s an example?”) — although asking for examples is the most basic question there is.
Thanks to Alex Chernavsky. More about the cargo-cult nature of modern biology. If you don’t believe me, read this: “Of the roughly 50 companies at the conference, not one is focused on approaches related to tracking down new genes. . . . The one corner of the genome-focused biotech industry that’s thriving is the one churning out equipment and services to support researchers in their endless hunt for gene links.”