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Genetic Testing and Medical Decision Making
Arch Intern Med. 2001;161:2406-2408.
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| Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. |
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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 research1-7
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 receptorassociated 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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