Clinical Applications of Whole Genome Sequencing

This lecture offers the following credit types: CME, P.A.C.E.®
 

Whole genome sequencing (WGS) is a powerful diagnostic tool that can be used in a number of clinical scenarios. During this presentation the benefits and limitations of whole genome sequencing will be discussed along with several case examples that illustrate how this tool can be applied clinically.

Originally published on October 14, 2025

Lecture Presenter

Hunter Best, PhD, FACMG

Hunter Best, PhD, FACMG

Professor (Clinical)
University of Utah School of Medicine
Operations Platform Director, NGS; Medical Director, Molecular Genetics and Genomics
ARUP Laboratories

Dr. Best is a professor (clinical) 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 Vanderbilt University in Nashville. His research focuses on the genetics of pulmonary arterial hypertension.

Objectives

After this presentation, participants will be able to:

  • Describe how massively parallel sequencing differs from traditional sequencing methods
  • Explain the difference between rapid whole genome sequencing and standard whole genome sequencing
  • Identify how whole genome sequencing is used clinically in suspected genetic disease diagnosis
  • Recognize the benefits and limitations of whole genome sequencing

Sponsored by:

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