Book Review

From Heredity to Anatomy

The Human Genome Project: Deciphering the Blueprint of Heredity

N Engl J Med 1994; 331:885September 29, 1994

Article

The Human Genome Project: Deciphering the Blueprint of Heredity
Edited by Necia Grant Cooper. 360 pp., illustrated. Mill Valley, Calif., University Science Books, 1994. $38. ISBN: 0-935702-29-6

In The Human Genome Project, the reader gets three books for the price of one. The first (which I will refer to as book A) is a textbook of genetics, presented in sections that cover a broad range of topics, from the history of scientific theories of heredity to basic cell and molecular biology and on to important technological advances in genome research. The second (book B) is a set of transcripts of discussions in which some of the national leaders in the Human Genome Project participated, led by Dr. Robert Moyzis, director of the Human Genome Center at Los Alamos National Laboratory. Books A and B do not occupy separate parts of the book but, instead, are interwoven throughout. The third (book C) is a series of short articles highlighting a number of the research programs in human-genome science being carried out at Los Alamos. I will deal with each of these three books in turn.

Book A is the best part of The Human Genome Project. It presents the factual information clearly, accurately, and in detail. The illustrations have been designed with care. It is among the best expositions of how modern molecular biology and genetics have united to form the scientific and technological underpinnings of the Human Genome Project. Book A would be very useful in a course that stressed technology in human genetic research.

Book B is odd, both in form and in content. Its form is that of a transcript of what appear to be off-the-cuff conversations among leaders in research and the administration of the Human Genome Project. Reading book B is therefore a bit like reading the screenplay for My Dinner with Andre; seeing the movie is more entertaining than reading it. As for content, I found some of the conversations engaging, such as the observations on why a scientist would want to participate in the Human Genome Project or how the differences in mindset among physical scientists, engineers, and geneticists impede their joining together to solve problems posed by the project. The sections on the ethical, legal, and social implications of the project were troubling, however. The discussants, despite their undeniable prominence as scientists and geneticists, offered little beyond what any articulate group of human beings might say in a casual discussion of these thorny problems. For example, the issue of the use of prenatal diagnosis to select the sex of a child for cultural reasons in India was dismissed as a “problem that is self-correcting” without anyone's raising the question of the ethical implications of the use of such testing and the role of genetic research in making sex selection possible. Participants with greater knowledge of public policy and the study of ethics would have added depth and rigor to the discussion.

Book C is an exposition of research on the genome project at the Los Alamos National Laboratory. For many readers of books A and B, book C may be too specialized, even arcane, although I personally found many of the articles informative. I particularly enjoyed seeing how many of the scientists at Los Alamos have brought their training and interests in physics, chemistry, and computer science to bear on research problems in the Human Genome Project.

For whom was this book designed? In contrast to the often-cited medical applications of the Human Genome Project, this book is oriented toward basic science and focuses on how the Human Genome Project will help us learn about normal development, gene regulation, chromosomal structure, and the organization of the genome. It is well suited to explaining the Human Genome Project to a sophisticated audience with a strong scientific orientation, such as the readership of Los Alamos Science, the periodical edited by Necia Grant Cooper. The material is pitched at a level that makes it accessible to and appropriate for undergraduate science majors, medical students, graduate students outside the field of human genetics, and practically anyone with a strong science background and an interest in human-genome research. It is not a book for laypersons. For example, the mathematical description of the difference between polymorphism information content and heterozygosity is unlikely to be of interest to a wide readership. Given this level of sophistication, it will not meet the needs of practicing physicians or the public at large as an introduction to the Human Genome Project.

Robert Nussbaum, M.D.
National Center for Human Genome Research, Bethesda, MD 20892