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Practical Genetic Counselling
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Fourth edition. Peter S. Harper. 3418 pages. Stoneham, Massachusetts: Butterworth-Heinemann; 1993. $45.00.
That Harper, a geneticist at the University of Cardiff in Wales, has had to revise this book four times in 10 years indicates the advances in genetics and his continuing desire to "provide simple but useful information for clinicians to the genetic problems that they might encounter in their practice." Harper says that "more than ever this is not a book for specialists."
The book features a chart reviewing all the symbols used in the drawing of pedigrees. Chapters discuss the general aspects of genetic counseling in mendelian and nonmendelian disorders, including chromosomal abnormalities, carrier detection, and others. A section with chapters on specific genetic disorders discusses the risk for recurrence. For example, if a child is born markedly retarded and no specific cause is found, the risk of a sibling being retarded is 1 in 25 for a male child and 1 in 50 for a female child.
The book even includes a glossary (with entries from allele through zygote), an index, and a bibliography at the end of each chapter. Although in the United States most patients with genetic disorders are referred to specialists for diagnosis and counseling, this book is a wonderful reference to enable primary physicians to be informed about their patients and to better evaluate the geneticists' recommendations. As Harper states in his conclusion, "Variation is the basis of life and of human evolution"
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