Population Screening in the Age of Genomic Medicine

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Abstract
Physicians in the era of genomic medicine will have the opportunity to move from intense, crisis-driven intervention to predictive medicine. Over the next decade or two, it seems likely that we will screen entire populations or specific subgroups for genetic information in order to target interventions to individual patients that will improve their health and prevent disease. Until now, population screening involving genetics has focused on the identification of persons with certain mendelian disorders before the appearance of symptoms and thus on the prevention of illness1 (e.g., screening of newborns for phenylketonuria), the testing of selected populations for carrier status, and the use of prenatal diagnosis to reduce the frequency of disease in subsequent generations (e.g., screening to identify carriers of Tay–Sachs disease among Ashkenazi Jews). But in the future, genetic information will increasingly be used in population screening to determine individual susceptibility to common disorders such as heart disease, diabetes, and cancer. Such screening will identify groups at risk so that primary-prevention efforts (e.g., diet and exercise) or secondary-prevention efforts (early detection or pharmacologic intervention) can be initiated. Such information could lead to the modification of screening recommendations, which are currently based on population averages (e.g., screening of people over 50 years of age for the early detection of colorectal cancer).2