The family history and genetic counseling. Tools for preventing and managing inherited disorders

Genetic disorders are more common than is generally appreciated and are the cause of significant morbidity and mortality. A number of these diseases are treatable, and in some cases, their clinical manifestations are preventable by early diagnosis and therapeutic intervention. A brief family history, obtained in a careful and thoughtful manner, can provide useful information to the physician for the diagnosis and management of patients with inherited diseases and, most importantly, can provide a unique opportunity to practice preventive medicine. Patients with known or suspected genetic disorders, including birth defects and mental retardation, deserve appropriate consultation and the opportunity for genetic counseling. This counseling is essential to permit couples at risk to make appropriate, informed reproductive decisions. Specialized diagnostic tests, such as chromosome analysis, are available, and many disorders can be diagnosed prenatally by amniocentesis.