Many physicians shy away from genetic counseling; this at least has been my experience on both sides of the Atlantic. Yet, in many instances, the family physician would be the best person to inform his patients, and/or their families, of an existing genetic risk and its magnitude, provided the disease has been accurately diagnosed, is genetically clear, and some rules of genetic counseling are observed. As these conditions frequently cannot be met, the advice of a medical geneticist will still be sought.
It is the purpose of this book to provide an understanding of the role medical genetics plays (or can play) in medical practice, aimed at practical help in applying genetic knowledge to it. Little or no previous exposure to medical genetics has been assumed.
The text is presented in three parts: (1) basic concepts of genetics in human disease; (2) clinical implementation of genetic principles; and (3) genetic