optical genome mapping

The Studies Are In—Optical Mapping Can Replace Traditional Cytogenetics Tests

We’re all aware of the way that next gen sequencing has changed many tests in the clinical laboratory. But some testing has held stubbornly resistant to change. This has been the case in cytogenetics, or the analysis of chromosomes. That is now changing thanks to a technology that is making inroads where next gen sequencing could not.

Alex Hoischen, Associate Professor of Genetics at Radboud University Medical Center in the Netherlands, is the lead author of two landmark back-to-back studies out this week demonstrating the power of optical genome mapping (OGM). The studies show 100% concordance of OGM to traditional cytogenetic techniques (karyotyping, FISH, and CNV microarrays) across both constitutional and hematological malignancy applications.

In today’s show, Alex says that the traditional cytogenetic testing hasn’t changed or been replaced by any sequencing approach for roughly 50 years.

“So it’s about time to change that. And in these two studies, we gave the first glimpse that OGM is on track to do so.”

Alex goes into some of the challenges of traditional testing and the benefits that optical mapping brings. It’s a single test replacing various tests. It also can be easily analyzed by lab personnel without the need for intensive bioinformatics resources, as is the case for whole genome sequencing.

The studies point to a change in standard of care in the clinic, but Alex says that optical mapping holds new possibilities for the research lab as well.