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Bionano Genomics Announces Publication of Interim Readout from the Consortium Conducting a Postnatal Clinical Trial Intended to Support Establishing Optical Genome Mapping as Part of Standard of Care in Genetic Disease Diagnosis
IRB-approved, multi-site, ongoing study evaluated 331 individual sample runs from 202 unique samples across 5 sites for interim measures of key endpoints:
About this update from Bionano Genomics, Inc.
[{"type":"text","content":"IRB-approved, multi-site, ongoing study evaluated 331 individual sample runs from 202 unique samples across 5 sites for interim measures of key endpoints: Concordance with standard of care (SOC) – 97.7% [214 out of 219 samples]Partially concordant with SOC – 2.3% [5 out of 219 samples]Concordance with SOC for pathogenic variant calls – 100% [219 out of 219 samples]Concordance with chromosomal microarray (CMA) – 100% [103 out of 103 samples]First-pass success rate for OGM – 94% [311 out of 331 samples]Reproducibility of analytical QC from site-to-site – 98.8% [171 out of 173 replicates]Reproducibility of pathogenic variant calls from site-to-site – 100% [173 out of 173 replicates] SAN DIEGO, Jan. 10, 2022 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (BNGO), pioneer of optical genome mapping (OGM) solutions on the Saphyr® system and provider of NxClinical™, the leading software solutions for visualization, interpretation and reporting of genomic data, today announced the publication of the first readout from the ongoing clinical trial designed to support establishing OGM as part of standard of care (SOC) in diagnosis of genetic disease for postnatal patients. This publication reports on the postnatal genetic disease diagnostic arm of Bionano’s study to evaluate OGM as an alternative to SOC workflows in four key clinical areas: prenatal and postnatal genetic diseases, hematologic malignancies and solid tumors. The studies will compare OGM to SOC, including concordance, reproducibility, technical success rates, turnaround time (TAT), diagnostic yield, health economics and patient outcomes. This first interim readout is designed to evaluate endpoints connected to analytical performance in key areas of technical performance and reproducibility of OGM. “The process of establishing a trial program with a consortium like this one is made possible by capable principal investigators and leading sites,” commented Alka Chaubey, PhD, FACMG, chief medical officer of Bionano. “We believe the trial is off to a terrific start, with a total of 813 subjects enrolled to date and as the interim readout of 202 subjects and 331 sample runs shows, OGM has performed well. We look forward to the investigators proceeding with the remaining samples and evaluating other critical endpoints like comparative diagnostic yields, turnaround times and health economic...