Efforts to implement and evaluate genome sequencing (GS) as a screening tool for
newborns and infants are expanding worldwide. The first iteration of the BabySeq Project …

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

Whole-genome sequencing (WGS) is positioned to become one of the most robust
strategies for achieving timely diagnosis of rare genomic diseases. Despite its favorable …

We sought to explore individuals' motivations for using their direct-to-consumer genetic
testing data to generate polygenic risk scores (PRSs) using a not-for-profit third-party tool …

Purpose As exome and genome sequencing (ES/GS) enters the clinic, there is an urgent
need to understand the psychological effects of test result disclosure. Through a Clinical …

Purpose People report experiencing value from learning genomic results even in the
absence of clinically actionable information. Such personal utility has emerged as a key …

In genomics, perceived and personal utility have been proposed as constructs of value that
include the subjective meanings and uses of genetic testing. Precisely what constitutes …

Glomerular diseases are classified using a descriptive taxonomy that is not reflective of the
heterogeneous underlying molecular drivers. This limits not only diagnostic and therapeutic …

Advances in the application of genomic technologies in clinical care have the potential to
increase existing healthcare disparities. Studies have consistently shown that only a fraction …

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 …