Sunday, April 19, 2009

Terrible fate for bioethics genomics 'experts'

Reams of bioethics books, PhD theses and papers have been written about personalised genomic medicine, genetic enhancement, much to the skepticism of yours truly (I kinda failed to see the point of investigating the ethics of non-existent technologies, the justice of equal access to such non-existent technologies, eugenics and such non-existent technologies etc etc etc). It turns out that bioethicists writing about these sorts of issues seem to have gotten ever so slightly ahead of themselves and/or the non-existent technologies. Reports the New York Times today, that "genomewide association study [...] has been disappointing in that the kind of genetic variation it detects has turned out to explain surprisingly little of the genetic links to most diseases." The current issues of the New England Journal of Medicine tries to make sense of this finding. Among these findings is that another great pet topic of bioethicists, namely investigating 'the right to know versus the right not to know', and the question of whether individuals should have access to genetic tests seems to be another storm in the non-existent genetic tea-cup. Turns out, to quote again from the New York Times, "“With only a few exceptions, what the genomics companies are doing right now is recreational genomics,” Dr. Goldstein said in an interview. “The information has little or in many cases no clinical relevance.” In other words, the tests results have little to no clinical predictive value.

Here are a few more excerpts from the NYT piece:

Unlike the rare diseases caused by a change affecting only one gene, common diseases like cancer and diabetes are caused by a set of several genetic variations in each person. Since these common diseases generally strike later in life, after people have had children, the theory has been that natural selection is powerless to weed them out. The[...]se diseases were expected to be promoted by genetic variations that are common in the population. More than 100 genomewide association studies, often involving thousands of patients in several countries, have now been completed for many diseases, and some common variants have been found. But in almost all cases they carry only a modest risk for the disease. Most of the genetic link to disease remains unexplained.

Dr. Goldstein argues that the genetic burden of common diseases must be mostly carried by large numbers of rare variants. In this theory, schizophrenia, say, would be caused by combinations of 1,000 rare genetic variants, not of 10 common genetic variants.This would be bleak news for those who argue that the common variants detected so far, even if they explain only a small percentage of the risk, will nonetheless identify the biological pathways through which a disease emerges, and hence point to drugs that may correct the errant pathways. If hundreds of rare variants are involved in a disease, they may implicate too much of the body’s biochemistry to be useful. “In pointing at everything,” Dr. Goldstein writes in the journal, “genetics would point at nothing.”

No doubt some philosopher will be quick to point out that the theoretical analysis in its own right is tremendously valuable. Hey, here's a thought, how about investigating the ethics of other non-existent technologies or things (like the flying blue teacup that created the universe)? It seems to me that given that there's plenty of meaningful real-world problems that bioethicists could be addressing, they should query the ethics of spending their time on fantasy problems pertaining to non-existent technologies.

Thanks to Howard Wolinsky for bringing this piece to my attention (on facebook, mind you!)

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