DESCRIPTION

General statement of purpose of the activity Molecular technologies are advancing at a rapid rate and the vast majority of genetic counselors did not receive any training in order to understand and critically evaluate the technologies used today. The Genomic Technologies Special Interest Group (GT SIG), which was recently formed with the mission to promote the ongoing education of GCs and other providers about existing, new, and emerging genomic technologies, conducted a needs assessment survey of NSGC members from March - April 2016. Next Generation Sequencing (NGS) was the top-rated category in terms of importance for successful job performance with only 20% reporting receiving good training in graduate school and 40% stating more training is needed. This series was created in response to the needs assessment survey findings and is divided into four parts: i. NGS Basics; ii. NGS Deepdive; iii. Clinical Applications of NGS; and iv. Focus on Exome Sequencing. Part 1 aims to serve as an introduction with review of the impact of NGS on the field of genetics/genomics and a basic overview of the technology. Part 2 will delve into NGS in more depth via a review of common NGS terminology and applications introduction including genome, exome, and panel sequencing. Part 3 will discuss the application of NGS to clinical testing including a comparison of panels versus exome sequencing. Part 4 will review NGS’s most complicated clinical application: exome sequencing including its clinical utility and a cost analysis.

LEARNING OBJECTIVES

1. Recall the basics of NGS including library preparation, clonal amplification, and sequencing.
2. Describe NGS common terminology including sequence enrichment, read depth, coverage, and alignment.
3. Detail the strengths and limitations of NGS clinical applications including panel testing and whole exome sequencing.