2017 Annual Meeting

SC50-Clinical Realities of Next-Generation Sequencing

March 10 2017, 8:00am to 11:30am


SC50-Clinical Realities of Next-Generation Sequencing

Session Credits: 3 CME and 3 SAMs

Faculty: John D. Pfeifer, MD, PhD, Washington University School of Medicine, St. Louis, MO; Nikoletta Sidiropoulos, MD, University of Vermont College of Medicine, Burlington, VT; Jennifer Sehn, MD, Washington University School of Medicine, St. Louis, MO; Eric Duncavage, MD, Washington University School of Medicine, St. Louis, MO

This is a practically oriented course that focuses on clinical applications of next generation sequencing (NGS) to direct patient care for diagnosis and prediction of therapy, in the settings of inherited disease as well as cancer. The course builds on prior USCAP educational offerings that have described NGS methods, platforms and bioinformatics, and therefore focuses on what practicing pathologists should know about clinical NGS rather than the nuts and bolts of building an NGS assay. The course will emphasize the scenarios in clinical practice in which NGS can provide clinically actionable information.

The course utilizes a series of case presentations to illustrate the use of NGS tests in routine patient care. The case presentations will be used to highlight key aspects of NGS tests (coverage metrics, basic enrichment methodology, spectrum of mutations detected, etc.) that are important for decisions concerning when to order testing and how to determine which test best fits the patient care need. The cases will be representative of common, practical scenarios; an audience response system will be employed to help insure that the case presentations are responsive to the registrants' knowledge base.

Virtual slide and still images, along with clinical histories and relevant genetic information, will be posted on the USCAP website for review by pre-registrants prior to the meeting. All course registrants will also receive web access to the PowerPoint presented at the USCAP Annual Meeting along with explanatory text.
This course is designed for general surgical pathologists and pathologists-in-training.

Upon completion of this educational activity, participants should be able to:

  • Describe the aspects of NGS test design that contribute to high utility in routine clinical use
  • Identify the clinical settings in which DNA sequencing by NGS techniques provides added clinical value compared with conventional methods, in the setting of inherited diseases as well as cancer
  • Understand the problems created by variants of unknown significance (VUS) identified by large panel, exome, or genome sequencing.


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