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New Approaches To Molecular Diagnosis

“Advances in understanding the of rare and common disorders, as well as in the technology of DNA analysis, are rapidly changing the landscape of and testing,” writes , M.D., Ph.D., of the University of Alabama at Birmingham, and , Ph.D., of the , Cambridge, Mass., in a Special Communication.

“Genomic testing may be used to identify risk factors for common disorders, although the clinical utility of such testing is unclear. Genetic and genomic tests may raise new ethical, legal, and social issues, some of which may be addressed by existing genetic non-discrimination legislation, but which also must be addressed in the course of genetic counseling.”

In this article, the authors provide information “to assist physicians in recognizing where new approaches to genetic and genomic testing may be applied clinically and in being aware of the principles of interpretation of test results.”


JAMA. 2013;309[14]:1511-1521.