Beware of Direct Lines

The most optimistic proponents of genomics suggest that with some human genomes (almost) completely sequenced, the next step of identifying disease-associated genes will be greatly enhanced. Now, so the argument goes, it should be possible to determine the functions of these genes and their corresponding gene products. Scientists hope this step will pave the way for the identification of drugs that target these disease-related gene products and treat or even cure the associated diseases. A scena

Neil Greenspan
Sep 16, 2001
The most optimistic proponents of genomics suggest that with some human genomes (almost) completely sequenced, the next step of identifying disease-associated genes will be greatly enhanced. Now, so the argument goes, it should be possible to determine the functions of these genes and their corresponding gene products. Scientists hope this step will pave the way for the identification of drugs that target these disease-related gene products and treat or even cure the associated diseases. A scenario consistent with the above scheme appears to have been realized to an impressive extent with the new kinase inhibitor, STI-571 (Gleevec), which is being used to treat chronic myelogenous leukemia. However, other well-known examples of disease-associated genes and gene products raise doubts as to whether such a direct line from gene to therapy, let alone cure, may be typical or even common.

Consider sickle cell disease. The pattern of inheritance (autosomal recessive) of sickle...