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From the New England Journal of Medicine, November 15, 2001

The first impression this book makes is one of hugeness: it is huge
in size, huge in scope, and huge in vision. This set of volumes,
which weighs in at 16 kg (35 lb) and is too large to carry to one's
car without advance planning, is no vade mecum. In the preface to
this edition, there is mention of an informal survey of owners of the
seventh edition, of whom 70 percent used the book at least weekly.
This book has become indispensable to those in the field, as well as
to a much broader audience. Does this edition build on the
achievements of the previous seven?
The first edition, then titled The Metabolic Basis of Inherited
Disease, was designed to give clinicians and scientists a foundation
in a field that seemed at last to be occupying an important place in
medicine. Prefaces to books give insight into the editorial rationale
behind them. In this eighth edition, the prefaces to the sixth and
seventh editions are reprinted, perhaps because the direction of the
book has changed. The editors of the earlier editions were the
redoubtable team of Stanbury, Wyngaarden, and Frederickson, who were
later joined by Goldstein and Brown. With the sixth edition came a
change in editorship and a widening of the scope in recognition of
the importance of molecular genetics. Also, for the first time, there
were chapters on chromosomal disorders, Down's syndrome, and the
fragile X syndrome, which the new editors realized ``might be the
thin end of a very big wedge.'' So it has proved. For the seventh
edition, the title was changed to The Metabolic and Molecular Bases
of Inherited Disease, signaling the inexorable rise of molecular
genetics as an important consideration in all aspects of inherited
disease. The changes in the current edition are even more striking.

Early on in the study of inborn errors of metabolism, we all came to
realize what Garrod had known a half century or more before, that
such research illuminates normal biochemistry. Now we have a broader
field and what the editors call ``the ultimate guidebook for
individualized medicine.'' Among the 225 chapters (with more than 500
authors) are, for example, 44 chapters on cancer, composing 10
percent of the whole book, as compared with 6 chapters in the
previous edition and none before that. ``Cancer,'' note the authors
in the introduction to these chapters, ``is in essence a genetic
disease.'' This statement is an indication of the change in direction
and the expansion of scope of this great textbook. It has grown from
the original notion of inborn errors -- those very rare, arcane
aminoacidopathies and organic acidemias with biochemical pathways
that ordinary physicians shrank from exploring -- to encompass the
whole of medicine that can be related to ``mutation.'' And that
really means almost all of medicine. Our susceptibility to many
disorders, even some accidents, and certainly infections, is
influenced to some extent by our genetic makeup. For example, work in
Nepal has identified a genetic background of the susceptibility to
reinfection by roundworms. So where should this book go next?

There are many new chapters in this edition, apart from the increased
coverage of cancer. The general chapters in the first volume are
useful and enlightening. The first chapter by the four primary
editors is a thoughtful account of the unifying themes of the book --
in particular, its focus on diseases caused by mutations and its
emphasis on the pathogenesis of various disorders, which is explored
in this and previous editions in satisfying detail. A third unifying
theme, therapies for inherited diseases, is developed in an excellent
later chapter in which the effectiveness of various treatments is
analyzed. In a chapter on pharmacogenetics, the authors use three
topics to illustrate the subject and do not pretend to be all-
encompassing. The inclusion of a chapter on aging is perhaps slightly
surprising, but the presence of one on mouse models of human genetic
disease is not, since this is an increasingly important topic. Also
on more general themes, the chapter on diagnostic approaches to
metabolic disease has been extended and polished, and it remains a
valuable aid to clinicians struggling with unusual clinical
presentations and the unexpected concurrence of various symptoms and
signs. New subjects include the channelopathies, a newly recognized
group of disorders with molecular defects in voltage- and ligand-
gated ion channels, and such diverse multisystem disorders as
Hirschsprung's disease, hereditary hearing loss, and Rett's syndrome.
There are also several newly included neurogenetic topics.

What distinguishes this book from some others is the thoroughness of
its treatment of subjects, its authority, its academic approach, and
the sense of excitement that it engenders. It is difficult to find
much that is wrong with this book. Sometimes the reasons for
editorial decisions about the amount of space accorded various topics
are not clear, and some very rare variants on which little new
information is available have been allotted as many pages as much
more common disorders that are part of rapidly developing fields.
More important, there will be much discussion of what has been
included overall and what has been omitted. It was obviously
difficult to draw a line, and the line that was chosen is not readily
apparent. The future direction of the book requires careful
consideration. If almost all of medicine is to some extent genetic,
this might indeed have to become a textbook of all of medicine. One
problem is the sheer weight and size of the four volumes, and the
cost of the book must put it out of reach even for some institutions.
A promised on-line version will address some of these issues.

To what should the editors of a medical textbook aspire? All
textbooks are of necessity slightly out of date at the time of
publication. There is a tendency to believe that information on a
given subject can be found readily in data bases and that textbooks
may be mainly for students or for people exploring aspects of
medicine outside their own areas of expertise. But great textbooks
should appeal to experts in the field, should contain a series of
integrated, authoritative reviews that both inform and illuminate,
and should put the whole into some sort of perspective. This book
succeeds with flying colors.