Human genome project

Although not exactly news, interest (and some concern) is mounting about the information that is increasingly becoming available through the human genome project (HGP) (see commentary by Charles Cantor in Nature Biotechnology1998;16(March):212). Already some 100 000 genes have been identified and the explosion in research activity that will follow this knowledge is undoubtedly leading to a new level of investigative strategy since, as Cantor states, “Anyone who seriously contemplates the currently available data is overwhelmed by it”. At the moment much of the activity is akin to stamp collecting and this is no less true for ophthalmic research where, for instance, identification of genes for retinitis pigmentosa has not yet led to a flood of information about how the disease is produced mechanistically.

At the present time several obvious benefits will derive from information revealed through the HGP. This includes better diagnostic tests for disease detection which itself inevitably will lead to new treatments and even some cures. Clinical trials may themselves be better focused and less expensive with more precise information on disease definition. For instance, when the many genes that govern intraocular pressure control are identified, it may be that certain drugs are best suited to certain types of primary open angle glaucoma but not others. Therefore, a diagnostic genotyping at the time of glaucoma detection may help the physician to select the best antiglaucoma therapy for each patient.

The much heralded gene therapy approach for the treatment of disease should also in theory be more generally available with further information from the HGP. However, while somatic gene therapy, in which the gene …