Inherited Conditions
Molecular Methodologies & Technologies
Susan Hsiao, MD, PhD
Associate Professor of Pathology and Cell Biology
Columbia University Irving Medical Center
New York, New York, United States
Description: This session is based on a new expert consensus report from the Association for Molecular Pathology that explores specific considerations for a slice testing strategy for diagnostics, including gene selection, analytic performance, coverage, quality, and interpretation. The AMP Whole-Exome Sequencing (WES) Standards Working Group with representation from the College of American Pathologists (CAP) and National Society of Genetic Counselors (NSGC) surveyed current laboratory practice and developed initial best practice guidance for germline slice testing using exomes. The recommendations were informed by a directed review of existing scientific literature, observational survey data, and the professional experience of the AMP WES Standards Working Group’s subject matter experts. These expert consensus recommendations are meant to be a reference guide and not to be interpreted as a restrictive list.
Learning Objectives:
1. Identify current challenges for clinical laboratories to maintain separate assays for interrogating disease focused gene panels.
2. Discuss new best practice guidance for germline slice testing using exomes.
Working Group Speaker: Jeffrey SoRelle, MD – UT Southwestern
Panelist: Rong Mao, MD (she/her/hers) – University of Utah/ARUP Laboratories
Panelist: Birgit Funke, PhD (she/her/hers) – Shriners Children’s Genomics Institute