Next generation sequencing for laboratorians: Understanding the essentials
3.0 ACCENT credits / 3.0 CME credits
Sunday, July 27, 2025
Morning course | 9 a.m. – 12 p.m. US Central Time
McCormick Place Chicago
Description
Next generation sequencing (NGS) has transformed genetic testing and precision medicine in clinical laboratory practice. This interactive course, tailored to laboratory professionals without significant NGS experience, is designed to provide an in-depth exploration of critical laboratory aspects of NGS technology. We will delve into its applications in both hereditary and somatic testing, covering topics such as technology, assay validation, quality control and assurance, and the inherent limitations and promising opportunities of NGS. Through the lens of real clinical scenarios and interactive case studies, we will highlight the importance of appropriate test selection, emphasizing the essential components of each aspect for laboratory medicine practitioners.
Target audience
This activity is designed for physicians, advanced practice professionals (NPs, PAs, RNs, etc.), lab supervisors, lab directors (and/or assistant directors), lab managers (supervisory and/or non-supervisory), pathologists, and in-training individuals.
Presentation level
Basic
Prerequisite knowledge
General knowledge regarding the following items will be helpful, but not required:
- Basic molecular biology and genetics principles
- Experience with clinical test workflows in the laboratory setting
What to bring
- A laptop or personal device for notetaking and audience participation.
- A curious mindset and a willingness to engage in case-based discussions.
- Any challenging NGS-related clinical questions for discussion and troubleshooting.
Learning objectives
After participating in this course, participants will be able to:
- Discuss the basic concepts, benefits, and limitations of next generation sequencing as a clinical test.
- Recognize the need for both targeted and comprehensive testing and select from these options.
- Describe clinical applications for hereditary and oncology testing.
Skills you will gain
- Selecting appropriate NGS-based tests for hereditary and oncology clinical scenarios.
- Troubleshooting NGS assay validation, quality control, and result interpretation.
Faculty
Vera Paulson, MD, PhD | University of Washington
Christina Lockwood, PhD, ABMG, DABCC | University of Washington
Runjun Kumar, MD, PhD | University of Washington
Course outline
- (50 min) Molecular testing: Proficiency and precision (Christina Lockwood)
Dr. Lockwood introduce NGS and its profound impact on molecular diagnostics. She will cover foundational concepts in NGS testing, including test development, validation, and implementation, as well as quality assurance and control practices. Audience polling will test your knowledge and reinforce principles on use of NGS.
(10 min) Questions/Break
- (50 min) NGS applications for germline testing (Runjun Kumar)
Dr. Kumar will use presentation, polling, and open Q&A to present NGS applications in hereditary disorders, highlighting the nuanced decision-making process between targeted and comprehensive testing based on specific clinical queries. Dr Kumar will illustrate key concepts using compelling clinical cases and shed light on the practical considerations when choosing between focused panels and broader genome/exome testing. Audience participation will focus on test selection and data interpretation limitations in germline testing.
(10 min) Questions/Break
- (50 min) The molecular landscape of cancer testing (Vera Paulson)
Dr. Paulson will concentrate on the applications of somatic testing for cancer patients, emphasizing the critical role in choosing the correct neoplastic specimen and appropriate assay. She will compare the capabilities and limitations of different NGS methods – including hybrid-capture and amplicon-based techniques – and discuss scenarios in which RNA-based NGS testing supersedes DNA-based approaches. Dr. Paulson will use clinical cases, audience polling, and Q&A to underscore the significance of specimen selection, differences between NGS assays, and limitations of NGS in oncology testing.
- (10 min) Panel discussion and closing remarks (All)
