Performance of whole genome sequencing versus whole exome sequencing

Tuesday, October 30, 2018
Performance of whole genome sequencing versus whole exome sequencing
Tuesday, October 30, 2018 11:00 AM - 12:00 PM (Pacific Time)

Description of Program Content:

Genomic testing (whole exome sequencing (WES) and whole genome sequencing (WGS)) has revolutionized the laboratory evaluation of patients with rare disorders. The range of conditions that can be diagnosed with these methods is increasing rapidly.  It has become important for clinicians to understand how these two approaches compare when choosing a genomic test.
WES and WGS will be compared in terms of coverage, turnaround time, diagnostic yield, ease of interpretation, range of variation detected, reanalysis yield, and cost.

Measurable Learning Objectives 
At the end of this activity the participant will be able to:

1. Identify which test, WES or WGS, has better coverage of the coding portion of the genome
2. Describe the types of disease-associated variants that can be identified through WGS
3. Explain the cost considerations when choosing WES vs WGS

Presenter:  David Bick, M.D., Chief Medical Officer and Faculty Investigator
David Bick, MD, is the chief medical officer and a faculty investigator at the HudsonAlpha Institute for Biotechnology, the medical director of The Smith Family Clinic for Genomic Medicine, LLC., and a laboratory director in the HudsonAlpha Clinical Services Laboratory, LLC. He comes to HudsonAlpha from the Medical College of Wisconsin where he was a professor in the department of pediatrics and the department of obstetrics and gynecology. At the Medical College of Wisconsin, he was the director of the Clinical Sequencing Laboratory at Medical College of Wisconsin; director of the Advanced Genomics Laboratory at Children’s Hospital of Wisconsin; medical director of the Genetics Clinic at Children’s Hospital of Wisconsin; and chief of the division of genetics in the department of pediatrics at Medical College of Wisconsin.  

Bick received his medical degree from George Washington University School of Medicine in 1981 and completed his residency in pediatrics at Yale-New Haven Hospital in New Haven, Conn. At the Yale University School of Medicine, Bick completed a fellowship in human genetics and pediatrics in 1986, followed by a postdoctoral research fellowship in human genetics in 1987. Bick is board-certified in pediatrics, clinical genetics and clinical molecular genetics.


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