Early adopters for prenatal applications: First steps towards clinical validation using Optical Genome Mapping

Augusta University
January 25, 2021
 

Dr. Ravindra Kolhe

Ravindra Kolhe, MD, PhD, Vice-Chairman of Pathology at the Medical College of Georgia at Augusta University describes his progress in developing a laboratory developed test (LDT) for prenatal testing with Saphyr as a confirmatory diagnostic test for positive NIPT tests. Results from his study show 100% concordance between OGM and the current gold standard, the combination of karyotyping, fluorescent in-situ hybridization (FISH) and chromosomal microarray (CMA). In addition, he reported that Saphyr data yielded a substantial amount of clinically relevant insights that go beyond the results with traditional methods. Dr. Kolhe analyzed five samples at two separate locations to evaluate site-to-site reproducibility and optical genome mapping showed 100% inter-site, inter-operator and inter-instrument reproducibility, with 100% data concordance between the sites. He reported that LDTs developed on Saphyr have an advantage because of reduced hands-on time compared to conventional methods, faster turn-around time, lower cost compared to the combination of standard methods, and overall provide actionable information that is faster and less expensive.