Thompson & Thompson Genetics in Medicine
In their preface to the first edition of Genetics in Medicine, published nearly 50 years ago, James and Margaret Thompson wrote:
Genetics is fundamental to the basic sciences of preclinical medical education and has important applications to clinical medicine, public health and medical research. … This book has been written to introduce the medical student to the principles of genetics as they apply to medicine, and to give him (her) a background for his own reading of the extensive and rapidly growing literature in the field. If his (her) senior colleagues also find it useful, we shall be doubly satisfied.
What was true then is even more so now as our knowledge of genetics and of the human genome is rapidly becoming an integral part of public health and the practice of medicine. This new edition of Genetics in Medicine, the eighth, seeks to fulfill the goals of the previous seven by providing an accurate exposition of the fundamental principles of human and medical genetics and genomics. Using illustrative examples drawn from medicine, we continue to emphasize the genes and mechanisms operating in human diseases.
Much has changed, however, since the last edition of this book. The rapid pace of progress stemming from the Human Genome Project provides us with a refined catalogue of all human genes, their sequence, and an extensive, and still growing, database of human variation around the globe and its relationship to disease. Genomic information has stimulated the creation of powerful new tools that are changing human genetics research and medical genetics practice. Throughout, we have continued to expand the scope of the book to incorporate the concepts of personalized health care and precision medicine into Genetics in Medicine by providing more examples of how genomics is being used to identify the contributions made by genetic variation to disease susceptibility and treatment outcomes.
The book is not intended to be a compendium of genetic diseases nor is it an encyclopedic treatise on human genetics and genomics in general. Rather, the authors hope that the eighth edition of Genetics in Medicine will provide students with a framework for understanding the field of medical genetics and genomics while giving them a basis on which to establish a program of continuing education in this area. The Clinical Cases—first introduced in the sixth edition to demonstrate and reinforce general principles of disease inheritance, pathogenesis, diagnosis, management, and counseling—continue to be an important feature of the book. We have expanded the set of cases to add more common complex disorders to the set of cases. To enhance further the teaching value of the Clinical Cases, we continue to provide a case number (highlighted in green) throughout the text to direct readers to the case in the Clinical Case Studies section that is relevant to the concepts being discussed at that point in the text.
Any medical or genetic counseling student, advanced undergraduate, graduate student in genetics or genomics, resident in any field of clinical medicine, practicing physician, or allied medical professional in nursing or physical therapy should find this book to be a thorough but not exhaustive (or exhausting!) presentation of the fundamentals of human genetics and genomics as applied to health and disease.