The first edition of Emery and Rimoin’s Principles and Practice of Medical Genetics appeared in 1983. This was several years prior to the start of the Human Genome Project in the early days of molecular genetic testing, a time when linkage analysis was often performed for diagnostic purposes. Medical genetics was not yet a recognized medical specialty in the United States, or anywhere else in the world.
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Therapy was mostly limited to a number of biochemical genetic conditions, and the underlying pathophysiology of most genetic disorders was unknown. The first edition was nevertheless published in two volumes, reflecting the fact that genetics was relevant to all areas of medical practice.
Thirty-five years later we are publishing the seventh edition of Principles and Practice of Medical Genetics and Genomics. Adding “genomics” to the title recognizes the pivotal role of genomic approaches in medicine, with the human genome sequence now in hand and exome/genome-level diagnostic sequencing becoming increasingly commonplace. Thousands of genetic disorders have been matched with the underlying genes, often illuminating pathophysiological mechanisms and in some cases enabling targeted therapies.
Genetic testing is becoming increasingly incorporated into specialty medical care, though applications of adequate family history, genetic risk assessment, and pharmacogenetic testing are only gradually being integrated into routine medical practice. Sadly, this is the first edition of the book to be produced without the guidance of one of the founding coeditors, Dr David Rimoin, who passed away just as the previous edition went to press.
The seventh edition incorporates two major changes from previous editions. The first is publication of the text in 11 separate volumes. Over the years the book had grown from two to three massive volumes, until the electronic version was introduced in the previous edition. The decision to split the book into multiple smaller volumes represents an attempt to divide the content into smaller, more accessible units. Most of these are organized around a unifying theme, for the most part based on specific body systems.
This may make the book more useful to specialists who are interested in the application of medical genetics to their area but do not wish to invest in a larger volume that covers all areas of medicine. It also reflects our recognition that genetic concepts and determinants now underpin all medical specialties and subspecialties. The second change might seem on the surface to be a regressive one in today’s high-tech world—the publication of the 11 volumes in print rather than strictly electronic form.
However, feedback from our readers, as well as the experience of the editors, indicated that access to the web version via a password- protected site was cumbersome, and printing a smaller volume with two-page summaries was not useful. We have therefore returned to a
full print version, although an eBook is available for those who prefer an electronic version.
One might ask whether there is a need for a comprehensive text in an era of instantaneous internet searches for virtually any information, including authoritative open sources such as Online Mendelian Inheritance in Man and GeneReviews. We recognize the value of these
and other online resources, but believe that there is still a place for the long-form prose approach of a textbook.
Here the authors have the opportunity to tell the story of their area of medical genetics and genomics, including in-depth background about pathophysiology, as well as giving practical advice for medical practice. The willingness of our authors to embrace this approach indicates that there is still enthusiasm for a textbook on medical genetics; we will appreciate feedback from our readers as well.
The realities of editing an 11-volume set have become obvious to the three of us as editors. We are grateful to our authors, many of whom have contributed to multiple past volumes, including some who have updated their contributions from the first or second editions. We are also indebted to staff from Elsevier, particularly Peter Linsley and Pat Gonzalez, who have worked patiently with us in the conception and production of this large project. Finally, we thank our families, who have indulged our occasional disappearances into writing and editing. As always, we look forward to feedback from our readers, as this has played a critical role in shaping the evolution of Principles and Practice of Medical Genetics and Genomics in the face of the exponential changes that have occurred in the landscape of our discipline.
Medical Books: Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Clinical Principles and Applications – 2018