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August 01, 2007
genomic heart risk
A commentary on "The Genomics Gold Rush" in JAMA 298, 2 (July 11) sent me looking for more about the author. Topol is a leading cardiologist who has been recruited to head up a translational genomics program at Scripps in La Jolla. He gives a helpful overview of the magnitude of the problem that researchers in this field face. In 2001, when the human genome sequence was published, it was predicted that in just a few years, we would start seeing cures based on genomics. Topol walks us through why that has not happened, though he obviously still thinks it will, since there have been several more breakthroughs. But the statistical and financial challenges are still staggering. (And for the record, I don't believe for a moment that he sees the proper end. Recall the quest for the ultimate subatomic particle. This is just the beginning of many centuries of the renewed search for the secret of life. Ask any alchemist.)
But that has not stopped the GATTACA project. There will be billions to be made in the gene detection business before it is realized how useless it is, even counterproductive. Note in this article (that I can't seem to link but was from Heartwire May 3 2007 about a Danish study and Ottawa study and subsequent marker kits) that even though there is no proven utility to this knowledge, marketing is fool speed ahead. It is ironic that the commentaries following Topol's in the JAMA mentioned are "The Relevance of Cost-effectiveness Analysis to Clinicians and Policy Makers" and "Meeting the Survival Needs of the World's Least Healthy People." I can hear God laughing at our hubris.
| By Robert Maddox | 11:05 AM