Recommendations for Next-Generation Sequencing Germline Variant Confirmation

 

 


 Recommendations for Next-Generation Sequencing Germline Variant Confirmation: 

A Joint Report of the Association for Molecular Pathology and National Society of Genetic Counselors

 

This contains the webinar and continuing education credit (CME and CMLE) 


Description:

 

 

This webinar is based on a new Report from the Association for Molecular Pathology, which establishes recommendations for standardizing orthogonal confirmation practices for germline variants detected by next-generation sequencing (NGS). The AMP NGS Germline Variant Confirmation Working Group with representation from the National Society of Genetic Counselors was formed to assess current evidence and standardize orthogonal confirmation practices to help limit the reporting of false positives. The eight recommendations established by the Working Group are based on a comprehensive review of published literature, current laboratory practice surveys, feedback from open public comment, and professional experiences.

 

 

 

Learning Objectives:

        • Describe existing orthogonal confirmation practices for germline variants detected by next-generation sequencing (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. 

 

 

Speaker:

Kristy Crooks, PhD, FACMG
Associate Professor
Director, Colorado Center for Personalized Medicine Biobank
Director, Laboratory Genetics and Genomics Fellowship
Section Director, CMOCO Laboratory
Department of Pathology
University of Colorado Anschutz Medical Campus

 

Moderator:
Avni Santani, PhD
Chief Medical Officer
Veritas Genetics

 


 

 

 



Duration: 1 Hour
Level of Instruction: Basic
Date Recorded: May 30, 2023

Planned and coordinated by the Training and Education Committee


Continuing Education Credit Information

CME credit: 1.0
CMLE credit: 1.0 
Last day to claim credit:  March 20, 2025

Accreditation Statements
AMA PRA Category 1 Credit(s)
This activity has been planned and implemented in accordance with the Essential Areas and policies of the Accreditation Council for Continuing Medical Education through the joint providership of American Society for Clinical Pathology (ASCP) and Association for Molecular Pathology (AMP). The American Society for Clinical Pathology (ASCP) is accredited by the ACCME to provide continuing medical education for physicians.

The ASCP designates this enduring material for a maximum of 1.0 AMA PRA Category 1 Credit(s)™. Physicians should claim only credit commensurate with the extent of their participation in the activity.

CMLE
This continuing medical laboratory education activity is recognized by the American Society for Clinical Pathology for 1.0 hours of CMLE credit. ASCP CMLE credit hours are acceptable for the ASCP Board of Certification (BOC) Certification Maintenance Program (CMP). CMLE credit hours meet the continuing education requirements for the ASCP Board of Certification Credential Maintenance Program (CMP) and state relicensure requirements for laboratory personnel. Participants should claim only the credit commensurate with the extent of their participation in the activity. 


Note: Members of AMP can access this webinar at no cost. Join the AMP Family!

 

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