Modeling the impact of data sharing on variant classification.

ABSTRACT:

Objective

Many genetic variants are classified, but many more are variants of uncertain significance (VUS). Clinical observations of patients and their families may provide sufficient evidence to classify VUS. Understanding how long it takes to accumulate sufficient patient data to classify VUS can inform decisions in data sharing, disease management, and functional assay development.

Materials and methods

Our software models the accumulation of clinical evidence (and excludes all other types of evidence) to measure their unique impact on variant interpretation. We illustrate the time and probability for VUS classification when laboratories share evidence, when they silo evidence, and when they share only variant interpretations.

Results

Using conservative assumptions

SUBMITTER: Casaletto J 

PROVIDER: S-EPMC9933054 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature