The nature of next generation sequencing technologies (NGS) results in the generation of
large amounts of data and the identification of numerous variants, for some of which the …

Although NGS technologies are well-embedded in the clinical setting for identification of
genetic causes of disease, guidelines issued by professional bodies are inconsistent …

Purpose The aim of this study was to explore genetic counselors' information preferences on
reports of variant of uncertain significance (VUS) results from cancer genetic testing …

As genetic testing technology has advanced, allowing scientists to obtain much of the raw
data from our DNA, their ability to interpret these data has struggled to keep up. The result is …

Importance Variants of uncertain significance (VUSs) are rampant in clinical genetic testing,
frustrating clinicians, patients, and laboratories because the uncertainty hinders diagnoses …

There are several key unsolved issues relating to the clinical use of next generation
sequencing, such as: should laboratories report variants of uncertain significance (VUS) to …

Summary In 2020, the National Human Genome Research Institute (NHGRI) made ten" bold
predictions," including that" the clinical relevance of all encountered genomic variants will be …

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 …

Background The widespread clinical application of genome-wide sequencing has resulted
in many new diagnoses for rare genetic conditions, but testing regularly identifies variants of …

Purpose Family studies are an important but underreported source of information for
reclassification of variants of uncertain significance (VUS). We evaluated outcomes of a …