Opportunities and Challenges in Using Targeted Next Generation Sequencing (NGS) for the Diagnosis of Dyslipidemias in a Clinical Setting

Abstract

Disorders of lipid metabolism, otherwise known as dyslipidemias, are among the strongest risk factors for atherosclerosis and ischemic heart disease, the leading cause of death in Canada. Targeted next generation sequencing (NGS) offers a unique opportunity to establish genetic diagnoses of inherited dyslipidemias faster and at lower costs. Recent studies have shown the utility of targeted NGS to diagnose disorders of extremely low HDL and familial chylomicronemia. Advancements in our understanding of the genetic architecture of dyslipidemias and capabilities offered by NGS technologies provide new opportunities for the incorporation of genetic information about lipid metabolism into clinical care.