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Interpretation of Genetic Testing: Variants of Unknown Significance

Fogel, Brent L. MD, PhD

CONTINUUM: Lifelong Learning in Neurology: April 2011 - Volume 17 - Issue 2, Neurogenetics - p 347–352
doi: 10.1212/01.CON.0000396975.87637.86
Practice Issues

As the number of genes available for commercial sequencing increases and the promise of clinical whole-genome sequencing becomes a reality, the interpretation of the results of these tests becomes more challenging for the practicing neurologist as these studies have the potential to detect novel genetic variants. Such reports are becoming more frequent in general practice, and neurologists are often left to puzzle over the relevance of these "variants of unknown significance," as such genetic changes are often described, and how to communicate this information to the patients and their families. This article will briefly illustrate how clinicians can use such results in the care of their patients. Only genetic variants involving coding sequence will be considered, although similar methods may also be applied to changes such as noncoding alterations or copy number variations. It is also important to note that in some cases, particularly those involving tests that only sequence select exons, negative test results may also require special interpretation.

Address correspondence to Dr Brent L. Fogel, University of California, Los Angeles, Department of Neurology, 710 Westwood Plaza, Los Angeles, CA 90095, bfogel@ucla.edu.

Relationship Disclosure: Dr Fogel receives research support from the National Institutes of Health.

Unlabeled Use of Products/Investigational Use Disclosure: Dr Fogel reports no disclosure.

© 2011 American Academy of Neurology
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