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This is a recording of a session from the AMP 2018 Annual Meeting & Expo. Purchase the entire AMP Annual Meeting & Expo 2018 Recordings for a significant discount!
This session will present advances in next-generation sequencing (NGS) in CLIA-certified and CAP-accredited laboratories to improve diagnostic testing. Collaborative efforts between Invitae, the Laboratory of Molecular Medicine, and the National Institute of Standards and Technology resulted in a framework for assessment of which variants are at risk for being false positives and are in need of orthogonal confirmation. Unique cross-disciplinary interpretation and reporting decisions made by a "Clinical Genomics Board" at UCLA reveal surprising results and lessons learned.
Industry Perspective
Robert L. Nussbaum, MD, Invitae Corporation, San Francisco, CA, USA
Academic Perspective
Wayne W. Grody, MD, PhD, University of California, Los Angeles, CA, USA
Objectives:
- Recognize the large amount of data needed for accurate assessment of false positive rates.
- Predict quality factors and genome context that contribute to false positive rates.
- Assess clinical utility, diagnostic yield, interpretive challenges, and reimbursement issues for patients with undiagnosed disorders.
- Summarize ethical dilemmas raised by clinical NGS.
Duration: 1.50 hr
Recording Date: November 2, 2018
Last day to purchase: December 31, 2021
There are no CME/CMLE or SAMs credits available.Note: Join the AMP Family for discounted access to the most current educational resources!
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