G. Bradley Schaefer - Medical Genetics

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DEDICATION

To my wife, Becky. She has been my encourager, listening ear and motivator throughout the entirety of this project. Hopefully she gets more out of this than just a free copy of the book. G. Bradley Schaefer

To my mother, Jean, and my sister, Lisa. Their patient encouragement helped make this an especially rewarding project. In addition, with his excellent work ethic and sense of humor, working with my longtime friend and colleague, Brad Schaefer, could not have been more enjoyable. James N. Thompson, Jr.

Genetics in medicine. Genetics and medicine. The genetics of medicine. All of these reflect slightly different aspects of the integration of basic genetic principles into the practice of medicine. The genetic revolution that has occurred over the past 20 years has thrust clinical genetics into the mainstream of medical practice. No longer is genetics a small, poorly understood discipline tucked away in the department of pediatrics or obstetrics. Rather, every component of health care delivery requires at least a working knowledge of core genetic principles. This fact is directly reflected in changes in medical school curricula, board questions, and continuing medical education. While the vast majority of medical students will not go on to specialize in medical genetics, all of them will need to know much about genetic concepts and principlesmore, perhaps, than some would like. Still, there truly is not a discipline in all of medicine that does not use genetic principles, genetic information, and genetic techniques in the practice of its field. Thus, a textbook in medical genetics must of necessity be broad and inclusive in the scope of material covered. The principles must be unifying and globally applicable. There must be sufficient detail to guide the student to successful completion of the curriculum at his/her respective medical school and to pass all three steps of the United States Medical Licensing Examination (USMLE). Most importantly, it should be a resource that students can use throughout their medical school years and beyond to refer to when questions arise during the times of residency and practice as a professional.

One caveat needs to be mentioned. The rapid pace at which genetic information is changing will require frequent and periodic updates to the information base. The printed textbook will require electronic augmentation for this generation of learners and updates to keep up with the dizzying pace of additional genetic knowledge. Any updates will be available at http://www.langetextbooks.com/.

This book utilizes an integrated approach to medical genetics by combining a tailored introduction to essential general genetics and up-to-date coverage of medical genetics following the curriculum recommended by the Association of Professors of Human Genetics and Medical Genetics and by the American Society of Human Genetics Guidelines. Core genetic principles are reviewed with an emphasis on mechanisms and unifying concepts.