Clinical Evaluation of Optical Genome Mapping using Saphyr for the assessment of genomic aberrations in solid tumors

Augusta University
January 26, 2021
 

Dr. Ravindra Kolhe

Dr. Ravindra Kolhe, Vice-Chairman of Pathology at the Medical College of Georgia at Augusta University describes his progress in developing a laboratory developed test (LDT) for solid tumor with Saphyr. Preliminary results from his study on the first five glioblastoma samples showed 100% concordance between OGM and the current workflow for solid tumor testing in his laboratory, the Oncoscan SNP array platform combined with five locus specific tests using several different techniques. Dr. Kolhe concludes that Saphyr outperformed the Oncoscan array by detecting 100% of the variants found by the array platform and many more clinically actionable events it missed, and that Saphyr better characterized complex events. In addition to the higher performance, Saphyr has reduced hands-on time, faster turn-around time, and is cost effective compared to this current combination of methods. He believes that tests developed on Saphyr may help in making a more accurate prognosis and could measure therapy response.