A primary goal of health care is to prevent disease or detect it early enough that intervention will be more effective. Strategies for disease screening and prevention are driven by evidence that testing and intervention are practical and effective. Currently, most screening tests are readily available and inexpensive. Examples include tests that are biochemical (e.g., cholesterol, glucose), physiologic (e.g., blood pressure, growth curves), or radiologic (e.g., mammogram, bone densitometry) or that involve tissue specimens (e.g., Pap smear). In the future, it is anticipated that genetic testing will play an increasingly important role in predicting disease risk (Chap. 63). However, such tests are not widely used except for individuals at risk for high-penetrancegenes on the basis of family or ethnic history (e.g., BRCA1, BRCA2). The identification of low-penetrance but high-frequency genes that cause common disorders such as diabetes, hypertension, and macular degeneration offers the possibility of new genetic tests. However, any new screening test, whether based on genetic or other methods, must be subjected to rigorous evaluation of its sensitivity, specificity, impact on disease, and cost-effectiveness. Physicians and patients are introduced continually to new screening tests, often in advance of complete evaluation. For example, the use of whole-body CT imaging has been advocated as a means to screen for a variety of disorders. Though it is appealing in concept, there is currently no evidence to justify this approach, which is associated with high cost and a substantial risk of false-positive results.


This chapter will review the basic principles of screening and prevention in the primary care setting. Recommendations for specific disorders such as cardiovascular disease, diabetes, and cancer are provided in the chapters dedicated to those topics.


Basic Principles of Screening


In general, screening is most effective when applied to relatively common disorders that carry a large disease burden (Table 4-1). The five leading causes of mortality in the United States are heart diseases, malignantneoplasms, accidents, cerebrovascular diseases, and chronic obstructive pulmonary disease. Thus, many prevention strategies are targeted at these conditions. From a global health perspective, these conditions are priorities, but malaria, malnutrition, AIDS, tuberculosis, and violence also carry a heavy disease burden (Chap. 2).

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Table 4-1 Lifetime Cumulative Risk 

A primary goal of screening is the early detection of a risk factor or disease at a stage at which it can be corrected or cured. For example, most cancers have a better prognosis when identified as premalignant lesions or when they are still resectable. Similarly, early identification of hypertension or hyperlipidemia allows therapeutic interventions that reduce the long-term risk of cardiovascular ...

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