Medical genetics is in its "golden age." Discoveries that elucidate a variety of genetic diseases are occurring rapidly. The definition of the basic defect in cystic fibrosis in 1989 is a spectacular example that is likely to lead to extensive genetic testing for the carrier state. A book that deals with the social and medical impact of genetic screening is therefore timely and welcome. Dr Holtzman is eminently qualified to write such a book, having spent most of his efforts over the last few years studying and pondering these issues. He starts out by providing the biologic background and explains how modern gene technology can be used in the diagnosis of genetic disease. While the molecular diagnosis of a given genetic defect is usually clear-cut, the resultant clinical manifestations often show variability in age of onset and severity. This axiom is particularly true for common diseases that depend upon interaction
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Arno G. Motulsky (1990) studied this question.