February 25, 2016
Sponsored by

Practical Application of the ACMG Variant Interpretation Guidelines for Clinical NGS Testing


Medical Director, Molecular Diagnostic Center, Knight Diagnostic Laboratories 

Adjunct Associate Professor, Genomic Medicine Initiative, University of California, San Francisco 

This webinar outlines the 2015 ACMG interpretation framework and demonstrates how the recommended variant scoring and classification rules may be applied to standardize reporting on sequencing test results within and across institutions.

Our first speaker, Sue Richards, Molecular Diagnostic Center medical director at Knight Diagnostic Laboratories, chaired the joint workgroup that devised the ACMG Standards and Guidelines to minimize differences in how laboratories interpret genetic variants and report on sequencing tests. Dr. Richards discusses how the evidence-based system was developed for clinical labs to provide a systematic process to classify genomic variants. Dr. Richards walks through the ACMG classification scheme and demonstrates how greater concordance of reporting may be achieved when using the standards.

Jeanette McCarthy, adjunct associate professor of Duke University and the Genomic Medicine Initiative at UCSF, discusses the logic of the ACMG evidence framework, including the types of evidence and how the strength of such evidence is weighed when assessing variants.

While the ACMG guidelines were developed to enable consistent, reliable interpretation of genetic variants, for many clinical labs, implementing the variant scoring rules into a standardized workflow has proven difficult with available tools. Dr. McCarthy demonstrates how the ACMG system was adapted as a rules-based software engine in Omicia’s Opal Clinical genome interpretation platform. The Opal Clinical scoring system provides guided assessment with yes/no evaluations that automatically generate classification recommendations based on the ACMG guidelines or customizable scoring rules. In addition, Dr. McCarthy explores how labs can manage citations for segregation and functional evidence to support classification.

Information on Omicia’s variant interpretation solutions for clinical testing and translational research is available here.

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