Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level.

ABSTRACT:

Purpose

Genetic testing commonly yields a plethora of variants of uncertain significance (VUS) that can lead to ongoing uncertainty for patients and their caregivers. While all VUS hold uncertainty, some VUS have more evidence in support of pathogenicity while others have more evidence of a benign role. Sharing these nuances can help guide the investment in follow-up clinical and research investigations and may, at times, influence medical decision-making despite appreciated uncertainty.

Methods

Four clinical laboratories have been subclassifying VUS to help prioritize investigation and guide reporting decisions. Each laboratory developed a distinct approach for how these subclasses are used in their laboratories and, in some cases, displayed on reports. We examined the comp

SUBMITTER: Bennett G 

PROVIDER: S-EPMC11601763 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature