The principal rationale for the $3 billion spent to decode the human genome was that it would enable the discovery of the variant genes that predispose people to common diseases like cancer and Alzheimer’s.This is not the principal rationale for the human genome sequence. Hyping it this way again sets life scientists up for failure, just as in the War on Cancer. People are starting to ask, so where are those cures based on knowing Alzheimer's gene variants? The human genome sequence has been amazingly useful to scientists. It has allowed researchers to take the powerful arsenal of genomic research tools that have been developed in model organisms like yeast or flies, and apply them to humans. By advancing basic research in a significant way, we are building a solid foundation achieve better diagnosis, prevention, and treatment of human disease. Treating human disease will no longer be a science problem, it will be an engineering problem. The advances in technology and basic understanding (not to mention the economic boost to the biotech sector) have already justified the $3 billion dollar cost of the initial human genome sequence. The human genome is more than just an enabler of personalized medicine. Personalized medicine may prove useful, or it may not, but the human genome has already proved its worth in understanding the molecular basis of many diseases, and it will prove its worth in health by making it possible to design intelligent diagnostic tools and therapies targeted at the function of genes involved in a disease. To be fair to Nicolas Wade at the Times, I'm not familiar with the history of human genome PR, and the search for disease variants is one popular use of the human genome sequence. But if you get past the PR and poll basic researchers who use the human genome sequence in their work, you'll find that most of them will tell you that the contribution to basic biomedical research is a more important, if not the most important rationale.
Is this really why we sequenced the human genome?
I usually like Nicolas Wade, but this very first sentence of a piece in this week's NY Times science section is not right: