Article
The Challenge of Genetic Variants of Uncertain Clinical Significance : A Narrative Review.
Annals of internal medicine - 1 Jul 2022
Burke Wylie, Parens Erik, Chung Wendy K, Berger Sara M, Appelbaum Paul S
Abstract excerpt
Genomic tests expand diagnostic and screening opportunities but also identify genetic variants of uncertain clinical significance (VUSs). Only a minority of VUSs are likely to prove pathogenic when later reassessed, but resolution of the uncertainty is rarely timely. That uncertainty adds complexity to clinical decision making and can result in harms and costs to patients and the health care system, including the...
Topics
- Genetic Predisposition to Disease
- Genetic Testing
- Humans
- Probability
- Uncertainty