Harrison's Internal Medicine > Chapter 4. Screening and Prevention of DiseaseScreening and Prevention of Disease: IntroductionA primary goal of health care is to prevent disease or to 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), radiologic (e.g., mammogram, bone densitometry), or tissue specimens (e.g., Pap smear, fine-needle aspirations). In the future, it is anticipated that genetic testing will play an increasingly important role for predicting disease risk (Chap. 64). However, such tests are not widely used except for individuals at risk for high-penetrance genes based on 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, or 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 continuously introduced 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 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, or cancer, are provided in the chapters dedicated to these topics.Basic Principles of ScreeningIn 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, malignant neoplasms, accidents, cerebrovascular diseases, and chronic obstructive pulmonary disease. Thus, many prevention strategies are targeted at these conditions. From a global health perspective, these same conditions are priorities, but malaria, malnutrition, AIDS, tuberculosis, and violence carry a heavy disease burden (Chap. 2).
A primary goal of screening is the early detection of a risk factor or disease at a stage when 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 or cerebrovascular events. However, early detection does not necessarily influence survival. For example, in some studies of lung cancer screening, tumors are identified at an earlier stage, but overall mortality does not differ between screened and unscreened populations. The apparent improvement in 5-year survival rates can be attributed to the detection of smaller tumors rather than a real change in clinical course after diagnosis. Similarly, the detection of prostate cancer may not lead to a mortality difference because the disease is often indolent and competing morbidities, such as coronary artery disease, may ultimately cause mortality (Chap. 78).Disorders with a long latency period increase the potential gains associated with detection. For example, cancer of the cervix has a long latency between dysplasia and invasive carcinoma, providing an opportunity for detection by routine screening. It is hoped that the introduction of new papilloma virus vaccines will provide additional disease prevention, ultimately reducing the reliance on screening for cervical cancer. For colon cancer, an adenomatous polyp progresses to invasive cancer over 4–12 years, providing an opportunity to detect early lesions by fecal occult blood testing (FOBT) or endoscopy. On the other hand, breast cancer screening in premenopausal women is more challenging because of the relatively short interval between development of a localized breast cancer and metastasis to regional nodes (estimated to be ~12 months).Methods of Measuring Health BenefitsIt is not practical to perform all possible screening procedures. For example, screening for laryngeal cancer in smokers is not currently recommended. It is necessary to examine the strength of evidence in favor of screening measures relative to the cost and risk of false-positive tests. For example, should ultrasound be used to screen for ovarian cancer in average-risk women? It is currently estimated that the unnecessary laparotomies triggered by finding benign ovarian masses would actually cause more harm than the benefit derived from detecting the occasional curable ovarian cancer.A variety of endpoints are used to assess the potential gain from screening and prevention interventions:1. The number of subjects screened to alter the outcome in one individual. It is estimated, for example, that 731 women ages 65–69 would need to be screened by dual-energy x-ray absorptiometry (DEXA) and then treated appropriately to prevent one hip fracture from osteoporosis.2. The absolute and relative impact of screening on disease outcome. A meta-analysis of Swedish mammography trials (ages 40–70) found that ~1.2 fewer women per thousand would die from breast cancer if they were screened over a 12-year period. By comparison, ~3 lives per 1000 might be saved from colon cancer in a population (ages 50–75) screened with annual FOBT over a 13-year period. Based on this analysis, colon cancer screening may actually save more women's lives than mammography. The impact of FOBT (8.8/1000 versus 5.9/1000) might be stated either as 3 lives per 1000 or as a 30% reduction in colon cancer death; thus, it is important to consider both the relative and absolute impact on numbers of lives saved.3. The cost per year of life saved is used to assess the effectiveness of many screening and prevention strategies. Typically, strategies that cost <$30,000–50,000 per year of life saved are considered "cost-effective" (Chap. 3). For example, using alendronate to treat 65-year-old women with osteoporosis approaches this threshold of approximately $30,000 per year of life saved.4. Increase in average life expectancy for a population. Predicted increases in life expectancy for various screening procedures are listed in Table 4-2. It should be noted, however, that the life-expectancy increase is an average that applies to a population and not to an individual. In reality, the vast majority of the screened population does not derive any benefit and possibly incurs a slight risk from false-positive results. A small subset of patients, however, will benefit greatly from being screened. For example, Pap smears do not benefit the 98% of women who never develop cancer of the cervix. However, for the 2% who would develop localized cervical cancer, Pap smears may add as much as 25 years to their lives. Some studies suggest that a 1-month gain of life expectancy is a reasonable goal for a population-based preventive strategy.
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Note: PSA, prostate-specific antigen. |
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aScreening is performed earlier and more frequently when there is a strong family history. Randomized, controlled trials have documented that fecal occult blood testing (FOBT) confers a 15 to 30% reduction in colon cancer mortality. Although randomized trials have not been performed for sigmoidoscopy or colonoscopy, well-designed case-control studies suggest similar or greater efficacy relative to FOBT.bIn the future, Pap smear frequency may be influenced by HPV testing and the HPV vaccine.Note: Prostate-specific antigen (PSA) testing is capable of enhancing the detection of early-stage prostate cancer, but evidence is inconclusive that it improves health outcomes. PSA testing is recommended by several professional organizations and is widely used in clinical practice, but it is not currently recommended by the U.S. Preventive Services Task Force (Chap. 81).Source: Adapted from the U.S. Preventive Services Task Force, 2005. Guide to Clinical Prevention Services, 3d ed. http://www.ahrq.gov/clinic/uspstfix.htm |
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Note: STDs, sexually transmitted diseases. |
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Note: The numbers in parentheses refer to areas of risk in the mortality column affected by the specified intervention.Abbreviations: MMR, measles-mumps-rubella; HPV, human papilloma virus; STD, sexually transmitted disease; UV, ultraviolet; PSA, prostate-specific antigen; AAA, abdominal aortic aneurysm. |
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U.S. Preventive Services Task Force: Clinical preventive services for normal-risk adults. Put prevention into practice. Agency for Healthcare Research and Quality, Rockville, MD, January 2003. Available at http://www.ahrq.gov/clinic/ppipix.htm |
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