In the preface of this new addition to the ever-expanding body of genetics literature, the authors state that they hope to serve medical students, housestaff and practicing physicians by reviewing the principles of modern medical genetics. While this book may be useful as a source of brief descriptions of various disorders with a genetic basis, the scope is too broad and the discussion not of sufficient depth for it to function alone as a primary genetics text.

This 305-page book includes sections on “Basic & Clinical Genetics”, “Genetics & Clinical Medicine”, “Inborn Errors of Metabolism”, “Other Clinical Issues in Genetics & Primary Care,” and “Appendices”. The first section includes a brief chapter on the role of genetics in medicine, which highlights how molecular technology has changed our understanding of the genetic basis of disease including those conditions that have not been traditionally thought of as genetic, including many adult-onset disorders. It is hoped, the reader will gain an appreciation for how much these advances in technology will transform the practice of medicine.

The next chapter in the first section is a review of fundamental genetics. The operative word here is “review,” as the structure and function of DNA and RNA, mitochondrial genetics, cytogenetics, sexual differentiation, chromosomal abnormalities, Mendelian inheritance, non-Mendelian inheritance, quantitative genetics and linkage and molecular analysis are discussed in 28 pages of text! Unfortunately, this chapter is too short to go into great detail on these subjects, and the reader requires a fairly extensive background in genetics in order to follow along. In addition, there is no glossary and the terminology that is used (e.g., aneuploidy) may be too technical for most first- or second-year medical students and many practitioners who have been out of medical school for more than a few years.

Similar criticisms can be made of the chapter on genetic diagnosis and gene therapy. The scope is too broad and, thus, short shrift is given to such fundamental concepts as indirect molecular testing for families at risk via linkage analysis. However, RNAse protection cleavage and denaturing gel electrophoresis are described, techniques that many clinical geneticists do not fully understand and which are not fundamental to clinical practice. Thus, the focus of this chapter could have been narrowed considerably with more thoughtful discussions of some of the key concepts.

The bulk of the book consists of chapters that include mostly one paragraph descriptions of genetic disorders. Housestaff, third-and fourth-year medical students, and primary care providers would find these sections useful in finding small bits of information on common and not-so-common disorders. A serious drawback, however, is that references are not cited within the text. In the chapters in the “Genetics & Clinical Medicine” section, the references are listed alphabetically by author at the end of each chapter, making it difficult to easily identify those references which might provide more in-depth information. Chapters within the “Inborn Errors of Metabolism” section have no specific citations listed, and the readers are refereed to one page of references at the end of the section and extensive tables in the appendices that list MIM numbers and chromosomal locations. For those who are unfamiliar with McKusick’s Mendelian Inheritance in Man (MIM), or those who do not have a copy of this classic genetics text available to them, these numbers are useless. (MIM does include extensive bibliographies and is now available on-line).

Chapters within the “Genetics & Clinical Medicine” section are divided by systems, that is, blood disorders, kidney and urinary tract, etc. Some are quite thorough (immune function) while others are fairly superficial (genetics and cancer). The authors have used tables and lists extensively, presumably to include more information in a limited space. Clinical manifestations and treatment are briefly discussed because of the number of conditions included. The molecular basis of a disorder is described, if known, although details of DNA-based testing are not discussed, which would be beneficial for most practitioners.

The format of chapters in the “Inborn Errors of Metabolism” section is similar to those in the “Genetics & Clinical Medicine” section. An extensive list of disorders is reviewed — bone mineralization to mitochondrial fatty acid oxidation defects.

In the section, “Other Clinical Issues in Genetics & Primary Care”, conditions affecting vision and hearing are reviewed, although it is not clear why these were not included in the “Genetics & Clinical Medicine” section. A reasonably complete chapter on congenital malformations is buried in this section. As a clinical geneticist, I would have preferred that this chapter be highlighted towards the beginning of the book as this area is fundamental to clinical genetics, especially for those who provide care to children.

Prototype pedigrees, MIM numbers and chromosomal locations for inborn errors of metabolism, and five diagnostic cases to test diagnostic skills comprise the final section. Specific references cited within the text would have been more useful than giving MIM numbers. The diagnostic cases would be useful to medical students, housestaff, and fellows in clinical genetics not only in testing their diagnostic skills, but in preparing for exams. The lack of a glossary in the appendices is a serious omission.

Genetics in Primary Care & Clinical Medicine is quite affordable and would be useful as a quick reference for many primary care providers, including internists, pediatricians and family practitioners, in conjunction with a good basic genetics textbook and McKusick’s Mendelian Inheritance in Man. I would also recommend this book to housestaff in these disciplines and to those doing fellowships in medical genetics. Medical students, however, would probably only find this book useful after a course in human genetics.