Expanded accessibility of genetic sequencing technologies, such as chromosomal
microarray and massively parallel sequencing approaches, is changing the management of …

Molecular diagnostics is a cornerstone of modern precision medicine, broadly understood
as tailoring an individual's treatment, follow‐up, and care based on molecular data. In rare …

In 2015, professional guidelines defined the term 'likely pathogenic'to mean with a 90%
chance of pathogenicity. To determine whether current practice reflects this definition …

This study systematically reviewed and synthesized the literature on psychological and
clinical outcomes of receiving a variant of uncertain significance (VUS) from multigene panel …

The evolving evidence base for the interpretation of variants identified in genetic and
genomic testing has presented the genetics community with the challenge of variant …

DECIPHER (D atabas e of Genomi c Var i ation and P henotype in H umans Using E nsembl
R esources) shares candidate diagnostic variants and phenotypic data from patients with …

Sharing genomic variant interpretations across laboratories promotes consistency in variant
assertions. A landscape analysis of Australian clinical genetic-testing laboratories in 2017 …

Up to 80% of BRCA1 and BRCA2 genetic variants remain of uncertain clinical significance
(VUSs). Only variants classified as pathogenic or likely pathogenic can guide breast and …

PURPOSE Genetic testing has clinical utility in the management of patients with hereditary
cancer syndromes. However, the increased likelihood of encountering a variant of uncertain …

Breast cancer risk models represent the likelihood of developing breast cancer based on
risk factors. They enable personalized interventions to improve screening programs …