Questions about the future of optical genome mapping? Let an Augusta University researcher help

Technology that enables an unprecedented, high-resolution look at all structural variants in our genes that are known to cause cancer can outperform standard tests used today for common blood cancers like leukemia, researchers report.

It’s called optical genome mapping, or OGM, a longtime research tool now making its way into health care.

Now the first study to standardize precisely how to use OGM for patients with a wide range of blood cancers indicates it can duplicate what existing tests find, provide better insight on the variants those tests identify and find additional variants, information that should improve patient outcomes.

“This is the first study to try to standardize the way we need to investigate these structural changes in hematologic malignancies using OGM for patients,” said Ravindra Kolhe, MD, PhD, molecular pathologist and interim chair of the Department of Pathology at the Medical College of Georgia at Augusta University.

“The bottom line is that by using technology like this, we will be able to make a better, more specific diagnosis, better classify the cancer, give a better prognosis based on that classification and enable better therapy choices,“ said Kolhe, corresponding author of the study published in The Journal of Molecular Diagnostics.

The findings demonstrate OGM’s potential as a frontline test in diagnosing blood cancers, or hematologic malignancies, said Kolhe, who is also associate director of genomics at the Georgia Cancer Center. Often, more than one of the three current tests are done on a single patient, and OGM may eliminate the need for multiple tests, the investigators say.                                    

OGM enables a direct look at DNA that, as the technology’s name implies, provides a perspective that is 20,000 times closer than conventional, commonly used karyotyping.

Karyotyping, which looks for chromosomal abnormalities, is one of the techniques used to analyze blood cancers. Others include chromosomal microarray, which looks for genetic deletions or duplications at a higher resolution than karyotyping but nowhere near that of OGM; and fluorescence in situ hybridization, or FISH, which also looks directly at DNA but on a much smaller, and less high-resolution scale, than OGM.                       

A key problem has been the comparatively low resolution of the technologies, which Kolhe likens to looking at the sky with the naked eye.

“This what is known as whole genome mapping,” said Kolhe. “This looks genome-wide for structural variants.”

DNA is a fundamental unit of our genetic material, while genes are segments of our DNA and DNA is carried in chromosomes, which are found in our cells. A patient’s symptoms and a typically subsequent look at cells in their blood first indicate cancer is present. But it’s these structural variants in the genes in those cells that are a major cause of cancer and can tell you the specific cancer type and stage, Kolhe said.

This is groundbreaking research and the developments could positively alter the future of health care. If you are a journalist looking to know more about this important research, then let our experts answer your questions and help with coverage.

Dr. Ravindra Kolhe is a molecular and genetic pathologist working to identify and validate cutting-edge platforms for diagnostic medicine. He’s also director of the Georgia Esoteric & Molecular Laboratory at Augusta University. If you are looking to arrange an interview with Dr. Kolhe, simply click on his icon now to find a time to talk today.