Prenatal assessment
Key finding: OGM generated similar results to 2-3 sequential assays combined
Multisite evaluation and validation of OGM across 123 prenatal cases. OGM results were 100% concordant with standard-of-care and reproducibility was 100% across all sites. OGM proved to generate, in a single assay, similar results to what would take 2 to 3 sequential assays to generate. Authors concluded it has potential to become a first-line assay, and reduce time and cost to results.
Link to the study: Multisite evaluation and validation of Optical Genome Mapping for prenatal genetic testing
Postnatal assessment
Key finding: OGM led to increase in pathogenic variants detection
Multisite prospective and retrospective study with OGM in >1,000 postnatal datapoints collected. OGM achieved 99.6% full or partial concordance with standard-of-care (SOC). More importantly, OGM additional calls led to an increase of 10.1% and 14.8% in reportable variants, in a cohort of prospective cases and Autism Spectrum Disorder cases, respectively.
Link to the study: Multisite Study of Optical Genome Mapping of Retrospective and Prospective Constitutional Disorder Cohorts
Hematological malignancies
Key finding: OGM reported additional pathogenic findings
Multisite validation study with OGM across 207 datasets from heme samples and controls. OGM performed at 100% for: concordance with SOC, sensitivity, specificity, accuracy, precision, PPV & NPV. More importantly, OGM reported additional clinically significant variants in 37% of the cases! Limit of detection was 5% for most SVs and CNVs.
Link to the study: Clinical Validation of Optical Genome Mapping for the Detection of Structural Variations in Hematological Malignancies
Solid tumors
Key finding: OGM accurately stratified HRD and HRP breast tumor samples
OGM was demonstrated to accurately characterize Homologous Recombination (HR) Deficiency and stratify samples as HR proficient/deficient, in triple-negative breast cancer tumors.
Link to the study: Optical Genome Mapping for detecting Homologous Recombination Deficiency (HRD) in human breast cancers