Role of Clinical Exome Sequencing in Diagnostic Odyssey


As next generation sequencing technologies improve in accuracy and cost effectiveness, they will become standard in research and clinical laboratories. This presentation discusses exome sequencing in clinical testing. It will summarize clinical sensitivity of exome sequencing based on age, clinical findings, number of family members sequenced, and type of mutations. Two interesting exome cases will be discussed in details from clinical findings to reporting. There will be also a discussion about incidental/ secondary findings, and American College of Medical Genetics Recommendations.

Originally presented on March 30, 2017 in Salt Lake City, Utah.

Lecture Presenter

Pinar Bayrak-Toydemir, MD, PhD

Pinar Bayrak-Toydemir, MD, PhD

Professor of Pathology
University of Utah School of Medicine
Medical Director, Molecular Genetics and Genomics
ARUP Laboratories

Dr. Bayrak-Toydemir is a professor of pathology at the University of Utah, School of Medicine. She received her MD from the Ankara University School of Medicine in Ankara, Turkey, where she also received her PhD in human genetics. Subsequently, she completed her fellowship in clinical molecular genetics at the University of Utah. Dr. Bayrak-Toydemir is board certified in medical genetics, and her research interests include inherited vascular disorders, specifically hereditary hemorrhagic telangiectasia, and implementation of new technologies, such as next-generation sequencing, in clinical settings.


After this presentation, participants will be able to:

  • Understand exome testing in diagnostic era.
  • Understand regulatory issues and reporting of incidental findings.
  • Understand clinical sensitivity of exome sequencing.

Sponsored by:

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