To confirm or not to confirm? That is the very expensive question

Tuesday, February 21, 2017
To confirm or not to confirm? That is the very expensive question
Tuesday, February 21, 2017 11:00 AM - 12:00 PM (Pacific Time)

Cost:  $195  

Description of Program Content:
Traditional clinical genetic testing involved evaluating single variants or genes or, at most, a handful of genes using Sanger methods. Significant or potentially significant variants were confirmed. This was not an issue because there were so few to worry about. With the advent of highly parallel, genome-scale sequencing, the number of variants to confirm rose from a few to potentially hundreds or thousands.  Laboratories and clinicians alike struggled with the urgent questions that arose: How many should be confirmed? What technology should be used to do it?  This issue has become more prominent as some testing companies have dropped confirmation altogether while, at the other end of spectrum, others recoil at the thought of providing information that may include errors. The current dilemma is: Should we still confirm variants or is that simply a quaint notion that can be discarded as we move into the NGS era? We will discuss the various sequencing platforms and the potential risks and rewards of (skipping) confirmation.

Measurable Learning Objectives; At the end of this activity the participant will be able to: 
1. Identify sources of error in different sequencing systems
2. Understand sequence quality metrics
3. Evaluate the cost and quality tradeoffs that are associated with confirming sequence variants

Presenter:  John F. Thompson, PhD, Chief Technology Officer at Claritas Genomics
Bio: J
ohn’s career has spanned pharmaceutical, next-gen sequencing, and genetic testing industries. Joining Claritas Genomics in 2014 as Chief Technology Officer, he has spearheaded novel genetic assays using NGS for diagnosing pediatric diseases and applying DNA sequencing to clinical problems. Prior to joining Claritas Genomics, John held positions at Nabsys and Helicos BioSciences that involved developing and implementing advanced genomics applications. At Pfizer, he worked on the molecular biology and genomics of drug discovery/development. Prior to joining industry, he was a Research Assistant Professor of Molecular Biology at Brown University researching lambda site-specific DNA recombination, DNA bending, and protein-DNA interactions. This followed a PhD from the University of California, Berkeley, Department of Chemistry where he focused on RNA and DNA structure and chemistry. His BS in chemistry is from Yale University.


Contact Information

  • 866-681-6700 x2

Payment Instructions

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    Medical Training Solutions, Inc. 
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    ATTN: Laboratory Webinars
    PO Box 17349
    Seattle, WA 98127

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