Exome sequencing and genome sequencing have the potential to improve clinical utility for
patients undergoing genetic investigations. However, evidence of clinical utility is limited to …

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 genotyping of millions of human samples has made it possible to evaluate variants
across the human genome for their possible association with risks for numerous diseases and …

Purpose To report BRCA1 and BRCA2 (BRCA1/2) variant reassessments and reclassifications
between 2012 and 2017 at the Advanced Molecular Diagnostics Laboratory (AMDL) in …

Guidelines recommend patients be informed of their incidental results (IR) when undergoing
genomic sequencing (GS), yet there are limited tools to support patients’ decisions about …

Purpose To evaluate the effectiveness of the Genomics ADvISER ( www.genomicsadviser.com
) decision aid (DA) for selection of secondary findings (SF), compared with genetic …

Purpose Alternative models of genetic counseling are needed to meet the rising demand for
genomic sequencing. Digital tools have been proposed as a method to augment traditional …

Genomic medicine is expanding from a focus on diagnosis at the patient level to prevention
at the population level given the ongoing under-ascertainment of high-risk and actionable …

Introduction The high demand for genetic tests and limited supply of genetics professionals
has created a need for alternative service delivery models. Digital tools are increasingly …

Background We explored health professionals’ views on the utility of circulating tumor DNA (ctDNA)
testing in hereditary cancer syndrome (HCS) management. Materials and Methods A …