Role of the General Pediatrician in Genetics
The pediatrician must be knowledgeable regarding the general principles of genetics and their application to common diseases and be aware of specific recommendations including newborn screening and carrier detection.
Abstract
The pediatrician must be knowledgeable regarding the general principles of genetics and their application to common diseases; should recognize the importance of an accurate family history, which, in most instances, need not be more than two or three generations of immediate relatives, and be able to obtain and interpret such; should recognize unusual clusters of disease, such as early onset coronary artery disease or cancer, and question the possible implications; should be aware of the fact that specific genetic diseases may be more common in certain ethnic and racial groups; should be able to counsel patients, including families, for common disorders and refer complicated cases to appropriate experts; should recognize the possibility of a genetic disorder and obtain appropriate specimens for analysis or refer such patients to experts; should be knowledgeable regarding [See figure in the PDF file] genetic screening in general and be aware of specific recommendations including newborn screening and carrier detection; should be familiar with indications for intrauterine diagnosis; and should be aware of the back-up resources for diagnosis, counseling, and treatment in the community.