Bionano Genomics says ACMG includes OGM in technical laboratory standards

Bionano Genomics announced that optical genome mapping was included for the first time in the American College of Medical Genetics and Genomics technical laboratory standards documentation for solid tumor analysis. The section, which was last updated in 2016, includes an overview of current cytogenomic techniques for solid tumor analysis and guidelines for their use, providing structure and standardization to laboratory geneticists as they perform cytogenomic studies for solid tumors. The technical laboratory standards were developed by a working group of laboratory geneticists performing cytogenetic studies. The working group conducted a comprehensive review of publications, current guidelines from organizations including ACMG, National Comprehensive Cancer Network, Children’s Oncology Group, and the World Health Organization, as well as the authors’ own expertise and empirical data, and their recommendations were voted on by the ACMG general membership and approved by the organization’s laboratory quality assurance committee and board of directors. The authors describe OGM’s utility for genome-wide analysis, due to its ability to detect and validate structural variants at high resolution in a single assay, as compared to traditional cytogenetic methods.