Available on the American Society of Human Genetics' education resources is a CSER-developed Guide to Interpreting Genomic Reports, a just-in-time resource for non-geneticist physicians when receiving a genomic test report. This Toolkit's work was led by Sharon Plon from Baylor and Kelly East from HudsonAlpha, with support from the CSER Practitioner Education working group.
CSER sites explore application of 2015 ACMG-AMP Variant Interpretation Guidelines
The CSER consortium pilot evaluating the 2015 ACMG-AMP variant interpretation guidelines was published online this week in the American Journal of Human Genetics. For this project, 9 CLIA genome/exome labs used both the ACMG-AMP guidelines and their local frameworks to classify the pathogenicity of 99 variants. Differences in variant interpretation within and between labs were identified demonstrating the difficulty and subjectivity of variant classification even when using a common set of rules. However, the ACMG/AMP guideline facilitated discussions of evidence criteria enabling resolution of most differences in variant interpretation as well as identifying aspects of the ACMG/AMP criteria that could be better clarified or quantified for more accurate and objective use. The minority of unresolvable differences in variant interpretation underscore that variant interpretation is still subject to professional judgment (even when using the same rules) and therefore complete consensus may not occur for all variants.
This paper is can be found online at AJHG here.