Genetic testing can provide dramatic clinical benefits. A childknown to have multiple endocrine neoplasia type 2 (MEN-2) canbe spared medullary carcinoma by undergoing prophylactic thyroidectomy(Figure 1),1 and an adult with hereditary hemochromatosis canbe spared cirrhosis by the early initiation of phlebotomy treatment.2Genetic testing can also provide diagnostic and prognostic informationthat aids in difficult clinical decision making. For example,a test for a deletion in the dystrophin gene, the cause of Duchenne'smuscular dystrophy, can be used to identify women who are carriersof this condition (Figure 2).3 A carrier may . . . [Full Text of this Article]
Definition of Genetic Testing
Genetic Diagnosis
Familial Risk
Clinical Validity of Genetic Tests
Genetic Testing to Improve Preventive Care
Informed Consent and Genetic Counseling
Conclusions
Source Information
From the Department of Medical History and Ethics, University of Washington, Seattle.
Address reprint requests to Dr. Burke at the Department of Medical History and Ethics, Box 357120, University of Washington, 1959 NE Pacific, Rm. A204, Seattle, WA 98195, or at wburke@u.washington.edu.
Related Letters:
Genetic Testing
Spanier B.W. M., Bruno M. J., Burke W., Pagon R. A.
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N Engl J Med 2003;
348:1066-1067, Mar 13, 2003.
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