Video LectureGenomics Reimagined in a Reference Laboratory Setting

The field of genomics has evolved at a rapid pace, resulting in many growing pains for clinical laboratories trying to implement massively parallel sequencing-based testing. This presentation will discuss the issues that we have encountered in this area, and how we have modified our processes to address them.

Originally published on February 27, 2019



Lecture Presenter

Hunter Best, PhD, FACMG

Hunter Best, PhD, FACMG

Medical Director, Molecular Genetics and Genomics Co-Scientific Director, NGS and Biocomputing Director, High Complexity Platforms—NGS
ARUP Laboratories
Pathology - Associate Professor (Clinical), Pediatrics - Adjunct Assistant Professor
University of Utah School of Medicine

Dr. Best is an associate professor of clinical pathology at the University of Utah School of Medicine. He received his PhD in molecular and cellular pathology at the University of North Carolina at Chapel Hill and completed a fellowship in clinical molecular genetics at the Vanderbilt University in Nashville. His research focuses on the genetics of pulmonary arterial hypertension.



Objectives

After this presentation, participants will be able to:

  • Explain massively parallel sequencing (MPS) and the role that it plays in clinical diagnostics
  • List the problems commonly encountered by clinical laboratories during implementation of MPS-based testing
  • Describe the steps that can be taken to streamline MPS clinical workflows

Sponsored by:

University of Utah School of Medicine, Department of Pathology, and ARUP Laboratories