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The known unknown: the challenges of genetic variants of uncertain significance in clinical practice

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As genetic testing technology has advanced, allowing scientists to obtain much of the raw data from our DNA, their ability to interpret these data has struggled to keep up. The… Click to show full abstract

As genetic testing technology has advanced, allowing scientists to obtain much of the raw data from our DNA, their ability to interpret these data has struggled to keep up. The result is the ubiquity of variants of uncertain significance (VUSs): findings from genetic testing for which the clinical significance is currently unresolved. What to do when these results are found is a problem that has vexed laboratories, clinicians, and patients alike. In this paper, I focus on the issues raised by VUSs in clinical practice, and suggest paths forward.

Keywords: clinical practice; variants uncertain; uncertain significance; known unknown; significance

Journal Title: Journal of Law and the Biosciences
Year Published: 2017

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