Approach to common chronic disorders of adulthood

Abstract

Common chronic diseases such as coronary heart disease, stroke, diabetes, and cancer are due to the interaction of genetic and nongenetic risk factors. Recognizing genetic factors that contribute to common chronic diseases can help identify individuals with increased risk, especially at early ages of onset. Understanding genetic susceptibilities for common chronic diseases can also help determine which diseases might develop in an individual, given a particular exposure or behavior. Family history collection and interpretation is the most practical population‐based strategy for identifying individuals with a genetic susceptibility to many common chronic diseases. It represents complex interactions of genetic, environmental, cultural, and behavioral factors shared by family members. Family history characteristics that increase disease risk include early age at diagnosis, two or more close relatives affected with a disease or a related condition, a single family member with two or more related diagnoses, multifocal or bilateral disease, and occurrence of disease in the less‐often affected sex. By recognizing the magnitude of risk associated with these familial characteristics, stratification into different familial risk groups (e.g., low, medium, and high) is possible, which can guide risk‐specific recommendations for disease management and prevention. Clinical genetic evaluation should be considered for individuals with a high familial risk for common chronic diseases or when a Mendelian disorder is suspected. The process includes (1) genetic counseling and education, (2) risk assessment and diagnosis using personal and family medical history, physical examination, and genetic testing, and (3) risk‐appropriate recommendations for management and prevention.