PPM - Variant of Uncertain Significance (VUS) Result Updating-Description and References

Description and References

Pdf Summary

This document provides a summary of a module aimed at clinicians who need to reevaluate the clinical relevance and significance of variants of uncertain significance (VUS) identified in genetic testing reports. The module guides learners through the necessary steps to update patients with new information about VUS identified in previous genetic testing. <br /><br />Next-generation sequencing technology has increased the number of available testing options, leading to the detection of rare variants in genes associated with genetic disorders. However, determining the clinical significance of these variants is often challenging, resulting in their classification as VUS. Over time, the classification of a VUS may change as more evidence emerges. The American College of Medical Genetics encourages laboratories to notify providers if the clinical interpretation of a VUS changes. However, keeping up with updating test reports becomes unsustainable as the number of variants grows. <br /><br />Therefore, clinicians should ensure they have the most up-to-date information during patient follow-ups. This can involve contacting the genetic testing laboratory for updated interpretations and gathering additional information from the patient, such as changes in clinical features and phenotype since the initial report. Phenotypic information can impact the interpretation of genomic variants. Clinicians can also explore literature and variant databases to see if the variant has been reported by others.  <br /><br />The document also includes references to relevant literature on clinical interpretation of sequence variants and technical standards for interpretation and reporting of genetic variants.

Keywords

clinicians

clinical relevance

variants of uncertain significance

genetic testing reports

reevaluate

module

clinical significance

next-generation sequencing technology

detection of rare variants

genetic disorders