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鈥檚 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.
鈥淭his is the first study to try to standardize the way we need to investigate these structural changes in hematologic malignancies using OGM for patients,鈥 said Ravindra Kolhe, MD, PhD,聽molecular pathologist and interim chair of the聽Department of Pathology聽at the聽Medical College of Georgia聽at聽黑料正能量.
鈥淭he 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,鈥 said Kolhe, corresponding author of the study published in聽The Journal of Molecular Diagnostics.
The findings demonstrate OGM鈥檚 potential as a frontline test in diagnosing blood cancers, or hematologic malignancies, said Kolhe, who is also associate director of genomics at the聽Georgia Cancer Center.聽Often, more than one of the three current tests are done on a single patient, and聽OGM may eliminate the need for multiple tests, the investigators say.聽聽聽聽聽聽聽聽聽聽聽聽聽聽聽聽聽聽聽聽聽聽聽聽聽聽聽聽聽聽聽聽聽聽聽聽
OGM enables a direct look at DNA that, as the technology鈥檚 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.聽聽聽聽聽聽聽聽聽聽聽聽聽聽聽聽聽聽聽聽聽聽聽
A key problem has been the comparatively low resolution of the technologies, which Kolhe likens to looking at the sky with the naked eye.
鈥淭his what is known as whole genome mapping,鈥 said Kolhe. 鈥淭his looks genome-wide for structural variants.鈥
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鈥檚 symptoms and a typically subsequent look at cells in their blood first indicate cancer is present. But it鈥檚 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鈥檚 also director of the Georgia Esoteric & Molecular Laboratory at 黑料正能量. If you are looking to arrange an interview with Dr. Kolhe, simply click on his icon now to find a time to talk today.
Ravindra Kolhe, PhD
Director, Georgia Esoteric & Molecular Laboratory at 黑料正能量
Ravindra Kolhe is a Molecular and Genetic Pathologist, involved in identifying and validating cutting-edge platforms for diagnostic medicine