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Cardiovascular Disease - Goals Of Genetic Studies

clinical genetics therapy directed promises

Many of the promises of genetics investigations have probably been grossly overstated. The immediate potential of the ongoing and planned investigations into the genetics of cardiovascular disease is more promising for gene-directed therapy (the use of genetic information to guide the judicious use of medical interventions) than for somatic gene therapy (the use of a gene or gene product which, when introduced into a human organ, changes the function of the organ).

The realistic promises of current genetics studies include the elucidation of disease mechanisms; the identification of new targets for the development of therapeutic pharmacologic agents; and the use of genetic markers to identify individuals for whom a particular agent is either effective or unusually hazardous. This approach, called pharmacogenomics, improves the safety and efficacy of treatments, and enhances the ability to preferentially select subjects for clinical trials based upon genetic predispostion and for gene-directed therapy. In the latter case, for example, a genetic contributor to the development of early-onset cardiovascular disease might be used as an additional risk factor whose identification could focus the allocation of preventive resources, whether educational, behavioral, or pharmacologic, to populations at particularly high risk for the disease.

Bill Kraus


Lander, E. S., and N. J. Schork. "Genetic Dissection of Complex Traits." Science 265 (1994): 2035-2048.

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