Book Review

Preconception and Preimplantation Diagnosis of Human Genetic Disease

N Engl J Med 1994; 331:684-685September 8, 1994

Article

Preconception and Preimplantation Diagnosis of Human Genetic Disease
Edited by Robert G. Edwards. 340 pp. New York, Cambridge University Press, 1993. $99.95. ISBN: 0-521-40425-8

The ability to diagnose genetic diseases early in pregnancy has already demonstrated the power of remarkable forms of technology and stimulated innumerable ethical debates. Now the diagnosis of genetic disease even before implantation provides new possibilities and adds to the ethical problems we face. The origins of these new techniques date back many years, and growing publicity about the successful delivery of children after preimplantation diagnosis has focused attention on the issue. Considerable excitement has been generated in the general community by the popular press and in more specialized circles by scientific reports.

Preconception and Preimplantation Diagnosis of Human Genetic Disease is an excellent book, one that is substantial in size and depth. It defines the problems that preimplantation diagnosis tries to solve; covers the history, biology, and molecular biology of genetic diseases; and discusses the techniques of molecular diagnosis, their applications to preimplantation diagnosis, and the directions they will take in the future. Legal issues and some ethical aspects of such diagnosis are also discussed. The publication of such a fine work in a field that epitomizes the frontier of biotechnology and medical science is commendable.

The entire book is an integrated work, rather than merely a collection of chapters by different authors on related subjects. This feature sets it apart from many works with a similar goal of providing an up-to-date perspective on a fast-moving field. The integration is both stylistic and organizational. For example, each of the 14 chapters has an unambiguous title and a list of subtitles that guide the reader to subsections. There are abundant figures, including one color plate. Each chapter contains extensive citations, and the index is well organized. Pleasingly, the editor has avoided any problem of inconsistency due to the large number of contributors, and individual chapters are pitched at a consistent readership.

The initial chapters cover general issues, including the desire for early diagnostic procedures and the molecular and metabolic features of early embryos that constrain the techniques for diagnosis. An entire chapter is devoted to the use of the polymerase chain reaction to diagnose alterations in DNA in single-cell samples, which is a critical technique. It would not be an exaggeration to say that this single method has made the greatest contribution to the success of preimplantation diagnosis. Fluorescent in situ hybridization is also mentioned.

Current techniques for the diagnosis of genetic diseases are discussed, again with an emphasis on the applications of the polymerase chain reaction. The diseases mentioned include cystic fibrosis, the thalassemias, Tay-Sachs disease, neurofibromatosis, Huntington's syndrome and other X-linked disorders, and the various types of chromosomal aneuploidy. The attention to these disorders reflects their frequency and severity and what is known about their molecular basis.

The important section on techniques of preimplantation diagnosis proceeds logically from the possible manipulation of sperm, which is not likely to be useful, to the extraction of cells from polar bodies, which is clearly the way to proceed. Factors that allow the accurate dissection of the blastocyst, the consequences of physical damage to later development, and the general difficulty of the procedures are all well covered.

The thoughtful final chapter, which considers legal and ethical issues, has been written with careful regard to the facts. It reviews the development of relevant legislation and of some attitudes, but makes little attempt to break any new ground.

Overall, I recommend this book highly. It is especially good for experts in either medical embryology or prenatal diagnostic methods who want a good overview of this emerging discipline. It will also serve medical practitioners seeking technical detail and a review of this new field. There is little doubt that preimplantation diagnosis is here to stay; this book is a worthwhile addition to the library of anyone likely to be involved.

Richard A. Gibbs, Ph.D.
Baylor Medical Center, Houston, TX 77030