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Arch Intern Med. 2001;161:2406-2408.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

AS ILLUSTRATED in this issue of the ARCHIVES, genetic testing is an increasingly informative tool in the diagnosis, prevention, and treatment of disease. The usefulness of this tool, however, hinges on its transparency in the clinical setting. Results of research^1-7 indicate that clinicians will experience predictable difficulties in interpreting probabilities associated with genetic testing, indeed with testing generally. These difficulties can be avoided by following the guidelines herein. With respect to these difficulties, genetic testing can be divided into 2 phases corresponding to the following questions: (1) Who should be tested? and (2) How should the test result be interpreted?

WHO SHOULD BE TESTED?

The first question concerns "pretest probability" of disease or genetic mutation and typically arises as a result of unexplained symptoms (eg, periodic fever as found in tumor necrosis factor receptor–associated periodic syndrome⁸ and episodic cutaneous angioedema or abdominal pain as found in hereditary angioedema⁹) or family history (eg, Huntington's . . . [Full Text of this Article]

HOW SHOULD THE TEST RESULT BE INTERPRETED?


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