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Much of the history and physical examination obtained at each health supervision visit is directed toward the identification of undetected problems or their risk factors in an effort at secondary prevention of undesirable outcomes. Screening for these conditions implies the presumptive identification of disease in an asymptomatic individual before it becomes clinically evident. Screening is not diagnostic; a patient with a positive screening test must undergo further evaluation for definitive diagnosis.1 Pediatricians must be aware not only of current recommendations regarding screening and the specific tests available but also of the basic principles and concepts behind screening in order to evaluate whether a given program does more good than harm for their particular patients and community.

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Screening assumes that identified persons will undergo definitive diagnostic testing and will subsequently benefit by earlier implementation of treatment or prevention programs. In deciding what conditions are worth screening for, the clinician must consider the following:

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  • Is the disease common in the population and serious enough to warrant screening?
  • Is there an acceptable treatment for the patients who have the condition?
  • Will early diagnosis favorably influence the outcome?
  • Is there a good screening test available?2

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The effectiveness of a given screening program can be demonstrated by performing a randomized clinical trial in which all pertinent outcomes are evaluated. Unfortunately, such data are often lacking or difficult to obtain. In the absence of such studies, the value of a given screening program must be defined in relation to the characteristics of the condition being screened for, the test being used, the population being evaluated, and the larger social context in which decisions regarding the value of detection and the allocation of resources are being made.

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Identification of conditions for which no treatment exists or for which the benefit of existing therapy is unproven, is of questionable value, or is potentially harmful. Even if an effective intervention exists, the clinician must weigh the potential risks and benefits of the treatment itself with that of the identified condition and consider the impact of public acceptance on compliance with recommendations about screening and treatment.2

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The costs associated with a screening program must be broadly defined. Costs include not only the screening itself but also the subsequently required diagnostic, therapeutic, and supportive services.2 The psychological impact on individuals identified as false positives and the costs involved in definitive evaluation of these individuals may be significant and should not be underestimated.3,4 (See also Chapter 98.)

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Early identification through screening does not always imply a better outcome. If the health care system or community is unable to provide the necessary subsequent diagnostic and therapeutic services, the ultimate value of the screening program is questionable. In addition, if persons at greatest risk do not avail themselves of the screening program, or if individuals with abnormal screening tests do not follow through with subsequent ...

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