Clinical Exome Sequencing

The commercial introduction of next-generation sequencing (NGS) in 2005 ushered in a new biomedical research era by virtue of the technology’s ability to yield unprecedented DNA sequencing throughputs in a rapid and cost-effective manner. Eight years later, NGS is being increasingly applied as a molecular diagnostic tool in fields as diverse as oncology, infectious diseases, and inherited (genetic) disorders. NGS is transforming the diagnostic evaluation of genetic disorders by allowing for more comprehensive, personalized approaches. For example, multi-gene panels are being employed in a variety of genetic disorders wherein mutations in any one of a multiplicity of genes can result in overlapping signs and symptoms, and exome sequencing is being leveraged to identify causal and candidate genes in patients and families with undiagnosed disorders with genetic etiologies.

Lecture Presenters
Pinar Bayrak-Toydemir, MD, PhD, FACMG
Pinar Bayrak-Toydemir, MD, PhD
Medical Director, Genomics, ARUP Laboratories
Medical Director, Bioinformatics, ARUP Laboratories
Professor of Pathology, University of Utah School of Medicine

Dr. Voelkerding is a medical director of genomics and bioinformatics at ARUP and a past-president of the Association for Molecular Pathology. Dr. Voelkerding received his MD from the University of Cincinnati College of Medicine and is certified by the American Board of Pathology in Clinical Pathology and by the American Board of Pathology and the American Board of Medical Genetics in Molecular Genetic Pathology. His research interests include the development and diagnostic translation of new molecular technologies with a current emphasis on genomic sequencing and its application in medical practice.

Rong Mao, MD, FACMG
Rong Mao, MD, FACMG
Medical Director, Genomics, ARUP Laboratories
Medical Director, Bioinformatics, ARUP Laboratories
Professor of Pathology, University of Utah School of Medicine

Dr. Voelkerding is a medical director of genomics and bioinformatics at ARUP and a past-president of the Association for Molecular Pathology. Dr. Voelkerding received his MD from the University of Cincinnati College of Medicine and is certified by the American Board of Pathology in Clinical Pathology and by the American Board of Pathology and the American Board of Medical Genetics in Molecular Genetic Pathology. His research interests include the development and diagnostic translation of new molecular technologies with a current emphasis on genomic sequencing and its application in medical practice.

Objectives

After this presentation, participants will be able to:

Understanding of exome testing in diagnostic era.
Understanding of regulation issues and reporting incidental findings.
Discussing the complicity of exome sequencing data interpretations.