Recommendations for Next-Generation Sequencing Germline Variant Confirmation: A Joint Report of the Association for Molecular Pathology and National Society of Genetic Counselors

Thursday, November 16, 2023

3:00 PM - 3:30 PM MST

Panelist(s)

Kristy Crooks, PhD (she/her/hers)

Asspciate Professor
University of Colarado
Aurora, Colorado, United States
Ryan J. Schmidt, MD, PhD

Assistant Director, Clinical Genomics Laboratory
Children's Hospital Los Angeles/Keck School of Medicine of USC
Santa Monica, California, United States
Avni Santani, PhD (she/her/hers)

Chief Genomics Officer
LetsGetChecked
Philadelphia, Pennsylvania, United States

Session Description: The AMP Clinical Practice Committee convened the Next-generation sequencing (NGS) Germline Variant Confirmation Working Group to assess current evidence and develop recommendations for orthogonal confirmation practices that, in concert with existing guidelines, are designed to help promote standardization, transparency, and quality improvement among laboratories. The eight recommendations established by the collaborative working group with representation from the National Society of Genetic Counselors are based on a comprehensive review of published literature, current laboratory practice surveys, feedback from multiple public meetings, and professional experiences.

If this session topic is of interest to you, please consider looking at the following course on AMP EDucation (AMPED™ Online)

Title: Recommendations for Next-Generation Sequencing Germline Variant Confirmation
Click here to learn more.

Learning Objectives:

Describe existing orthogonal confirmation practices for germline variants detected by NGS.
Discuss the recommendations established by the AMP NGS Germline Variant Confirmation Working Group
Discuss potential benefits of establishing more standardized orthogonal confirmation practices for NGS-identified germline variants.