Compassion fatigue is a state of detachment and isolation experienced when healthcare
providers repeatedly engage with patients in distress. Compassion fatigue can hinder empathy …

Genome sequencing (GS) has demonstrated high diagnostic yield in pediatric patients with
complex, clinically heterogeneous presentations. Emerging evidence shows generally …

Background Racial/ethnic minority populations in the United States are consistently
underrepresented in genetic research. Large‐scale public participation is required to ensure …

Clinical laboratories have adopted next generation sequencing (NGS) as a gold standard for
the diagnosis of hereditary disorders because of its analytic accuracy, high throughput, and …

Chatbots, web-based artificial intelligence tools that simulate human conversation, are
increasingly in use to support many areas of genomic medicine. However, patient preferences …

Background: Genome-wide sequencing has emerged as a promising strategy for the timely
diagnosis of rare diseases, but it is not yet available as a clinical test performed in Canadian …

This study systematically reviewed the literature on the impact of digital genetics tools on
patient care and system efficiencies. MEDLINE and Embase were searched for articles …

Purpose Although costly, genome-wide sequencing (GWS) detects an extensive range of
variants, enhancing our ability to diagnose and assess risk for an increasing number of …

Defects in PEX3 are associated with a severe neonatal-lethal form of Zellweger spectrum
disorder. We report two moderately affected siblings whose clinical and biochemical …

Purpose Digital tools are increasingly incorporated into genetics practice to address challenges
with the current model of care. Yet, genetics providers’ perspectives on digital tool use …