Chemotherapy: Part 4 of 4

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Many of the disorders so identified are physical ones such as Tay-Sachs disease, an inherited metabolic disorder. However, at least some of these physical disorders will have among their symptoms various kinds of mental disorganization. This may well motivate potential parents to avoid conceiving a child that would have one of these conditions. Amniocentesis, the testing of the fluid in the womb after the fetus is conceived is another means of detecting genetic abnormalities. It may lead to a decision to abort the fetus if massive abnormalities are discovered.

All of these are grim possibilities, involving wrenching decisions for the people involved. And there is some possibility that genetically damaging agents are more insidious than has been realized. In the first half of this century there was an incredible proliferation in the manufacture and use of complex chemicals, many of them in the workplace. Many scientists now suspect that overexposure to some of these chemicals or certain manufacturing processes may cause chromosomal damage and that damage may be genetically passed on to descendants: There is good evidence that this occurs in nonhuman mammals (National Academy of Sciences, 1983).

Although the evidence is indirect, because the transmission mechanisms are similar it is likely that this occurs in humans as well. In the future genetic counselors are likely to add questions about chemical hazards at the workplace to their lists of interview questions. Some other forms of biologically based interventions are less bleak. Today it is sometimes possible to compensate for a genetic deficiency with drugs or control of diet. For instance, phenylketonuria (PKU) is a genetically transmitted disease that was often fatal; the underlying cause involves an abnormal buildup of amino acids when elimination mechanisms malfunction.

This buildup can be avoided by control of diet. Even more exciting possibilities exist for what can be called “human genetic therapy.” This involves the insertion of a normal gene to correct a genetic deficit. The complexity of the procedure necessary to do this successfully is astonishing. Still, it has been successfully accomplished in fruit flies and mice, Where does all this stand with human beings? We quote the wise conclusion of a leading expert in the field: ”Gene therapy techniques are becoming increasingly efficient. Their future application in human beings should result in at least partial correction of a number of genetic disorders. However the safety of the procedures must still be established . . . before human clinical trials would be ethical.” It is further clear that the best prospects for this kind of genetic therapy involve physical rather than mental defects. Genetic therapy is a promising future therapeutic technique, but is not yet a reality.

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