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Providing a More Comprehensive and Personalized Approach to Genetic Disorders through Next-Generation 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.

Originally presented on June 18, 2013, in Salt Lake City, Utah.

Lecture Presenter

Karl V. Voelkerding, MD

Karl V. Voelkerding, MD

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:

  • Describe how NGS has provided a new technological approach that has expanded the ability to improve genetic disorder diagnosis.
  • Relate the essential and complex role of bioinformatics in deriving diagnostic results from NGS data.
  • Discuss the impact of exome sequencing in the diagnostic evaluation of patients with undiagnosed disorders.

Sponsored by:

University of Utah School of Medicine, and ARUP Laboratories