Next Generation Sequencing for Laboratorians: Understanding the Essentials (Half Day)

Sunday, July 28, 2024
9:00 AM – 12:00 PM US Central Time
McCormick Place Chicago


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), medical technologists, point-of-care coordinators, pathologists, in-training individuals, and other laboratory professionals overseeing/conducting within this topic.

Prerequisite Knowledge 

No prerequisite knowledge required.

What to Bring

Your curiosity and your electronic/mobile devices, as audience participation is encouraged.

Learning Objectives

  • Discuss the basic concepts, benefits, and limitations of next generation sequencing as clinical tests.
  • Recognize the need for both targeted and comprehensive testing and select from these options.
  • Describe clinical applications for hereditary and oncology testing.


Vera Paulson, MD, PhD | University of Washington

Christina Lockwood, ABMG, DABCC | University of Washington

Jillian Buchan, ABMG | University of Washington

Course Outline

  1. Molecular Testing: Proficiency and Precision (50 mins.)
    This presentation will introduce NGS and its profound impact on molecular diagnostics. The speaker will delve into foundational concepts related to NGS testing, encompassing test development, validation, and implementation, as well as quality assurance and control practices. The audience response portion of this session will focus on reinforcing fundamental principles associated with the use of NGS to assess whether the audience can successfully apply the key concepts.The last few minutes will be dedicated to questions and/or quick break.

  2. NGS Applications for Germline Testing (50 mins.)
    This presentation will focus on NGS testing for hereditary disorders, highlighting the nuanced decision-making process between targeted and comprehensive testing based on specific clinical queries. Through compelling clinical cases, the speaker will shed light on the practical considerations when choosing between focused panels and broader genome/exome testing. Audience participation will emphasize test selection and limitations of data interpretation to reinforce key concepts in germline testing. The last few minutes will be dedicated to questions and/or quick break.

  3. The Molecular Landscape of Cancer Testing (50 mins.)
    This presentation will concentrate on somatic testing for cancer patients, emphasizing the critical role in choosing the correct neoplastic specimen and the appropriate assay. It will delve into the capabilities and limitations of different NGS methods, differentiating between hybrid-capture and amplicon-based techniques and discussing the scenarios in which RNA-based NGS testing supersedes DNA-based approaches. By using audience responses with specific clinical cases, the speaker will underscore the significance of specimen selection, the differences between NGS assays, and the limitations of NGS in oncology testing.

  4. Panel Discussion & Closing Remarks (10 mins.)