An Introduction to Medical Genetics

This volume is the eighth edition of a book which first appeared in 1940. The science of genetics has changed much since then, and so has the book. For the second time it has Dr. Marcus Pembrey as joint author. Developed to fill a void in the field of medical genetics, the book continues to meet a need in the education of physicians. It aims to show how the science of human genetics plays an important role in clinical medicine. Changes from the previous edition include more information on chromosomes, metabolic diseases, oncogenes, and cancer. Competitors for its place in the education of physicians and geneticists include volumes authored by Thompson and Thompson, Connor and Ferguson-Smith, and Nora and Fraser. It possesses major advantages over the latter two, including more basic scientific information, use of the hemoglobinopathies to illustrate molecular genetics principles, greater detail, and more depth. It is more readable than the Nora and Fraser offering. Not surprisingly, since both authors come from Great Ormond Street, the book has a delightfully British flavor, adding to the pleasure of reading it. Its coverage of important issues in medical genetics is quite complete, although it has remained considerably smaller than the major competing two-volume clinical genetics text by Emery and Rimoin. The topics of Mendelian inheritance and chromosomal abnormalities are very well covered and include clinical examples relevant to the physician. Two sections address the specific issues of genetic counseling and prenatal diagnosis. Immunogenetics is covered in a short chapter and molecular genetics in two chapters, one on DNA structure and one a discussion of function using the hemoglobin disorders as examples. These two nuclear genetics chapters are separated by four other chapters, which seems like poor pedagogy, and neither of them appears as early in the text as would seem logical, given their basic importance. Similar separation mars the clarity of the presentations of population genetics. Aside from these few criticisms, the book serves its purposes well and makes delightful reading.