The known unknown: the challenges of genetic variants of uncertain significance in clinical practice
Lily Hoffman-Andrews
2017.12.1Journal of Law and the Biosciences
tlooto Summary
The issues raised by VUSs in clinical practice are focused on, and paths forward are suggested to suggest paths forward.
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.
Citation format
HOFFMAN-ANDREWS, Lily. The known unknown: The challenges of genetic variants of uncertain significance in clinical practice. Journal of Law and the Biosciences, 2017, 4: 648–657.