The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.

ABSTRACT:

Purpose

Variants of uncertain significance (VUS) are a common result of diagnostic genetic testing and can be difficult to manage with potential misinterpretation and downstream costs, including time investment by clinicians. We investigated the rate of VUS reported on diagnostic testing via multi-gene panels (MGPs) and exome and genome sequencing (ES/GS) to measure the magnitude of uncertain results and explore ways to reduce their potentially detrimental impact.

Methods

Rates of inconclusive results due to VUS were collected from over 1.5 million sequencing test results from 19 clinical laboratories in North America from 2020 to 2021.

Results

We found a lower rate of inconclusive test results due to VUSs from ES/GS (22.5%) compared with MGPs (32.6%; P < .0001). For

SUBMITTER: Rehm HL 

PROVIDER: S-EPMC10825061 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature