The NYU Langone Health and Perlmutter Cancer Center have launched a clinical whole-genome DNA methylation profiling today in NYC. In US, this NYU Langone Health is the first certified laboratory as a Clinical Laboratory Improvement Amendment (CLIA). It gained approval from the New York state department of health for the diagnosis of brain tumors based on whole-genome DNA methylation.
One major hurdle faced by the clinical during cancer diagnosis and treatment is the identification of the molecular and basic cellular changes in the tumor. These changes will detect whether is patient is responding to the treatment or show resistance against a therapy or not.
With the emerging sensitive, expensive and latest technologies it is not appropriate for the patient to use it for the long duration with increased frequencies. To resolve this researcher becomes keen on finding out the ways that use the biological chemicals secreted by the tumors. This can be done by the liquid biopsy and it acts as biomarkers for cancer during the diagnosis.
This molecular leading technology uses the DNA epigenetics signature and artificial intelligence to accurately detect the type of brain tumors by the machine.
Tumors cells and tumor DNA that the common biomarkers used in the liquid biopsy, extracellular vehicles (EVs) gained attention from the last few years for the diagnosis of cancer.
Nano-sized vesicles secreted by the cells either in the form of exosomes or by budding from the plasma membrane. These are called as extracellular vesicles as it plays an important role in cancer and used as biomarkers in the cancer patients as well as in glioma patients.
Most cancer cells shed EVs into the tumor microenvironment that contains molecular cargo such as proteins, nucleic acids, and lipids. The EV content reflects the cell of origin, meaning EVs can serve as a source of genetically or biologically active material. EVs can play the role of genetically active material in the tumor microenvironment, as most cells release it in the extracellular space. it contains molecular cargo, as lipids proteins and nucleic acid.
Normal cells also shed the EVs, so the result becomes contaminated and is not sensitive about the detection of tumors, rare mutations, treatment, and monitoring. Such type of technologies needs some advancement for the better identification of tumors specific EVs.
For the diagnostic testing of human samples, the CLIA wants to regulate the testing of labs. Clinical laboratories need to be certified by the states including the federal government’s center for Medicare and Medicaid Services (CMS).
Based on different types of diagnostic tests, laboratories can receive numerous certifications. Under the CLIA there are there federal agencies that are responsible for issuing the certification to the laboratories and to ensure the quality testing: The Food and Drug Administration, CMS, and Center for Disease Control and Prevention.
In the year 2018, the same was reported in a scientific paper published in NATURE based on the pathology department of NYU Langone’s research collaboration with the German Cancer Research. Matija Snuderl, MD, is a director of Molecular pathology and diagnostic and the member OF Perlmutter cancer center.
He is part of the team in the development of whole-genome DNA methylation and performed the clinical trials at NYU Langone Health. According to him by using the traditional diagnostic techniques 10-14% of brain tumors cannot be detected accurately. DNA methylation gives some extra information for the proper diagnosis of the tumor as compared to the traditional techniques.
According to Erik P. Sulman, MD, Ph.D., also the co-director of the brain and spine tumor center at Perlmutter Cancer Center, during the clinical care of the patients it is a very critical step to accurately diagnose the patients with a brain tumor.
The word of Chairman of NYU Langone, john G. Golfinos, MD, is “To ensure the high quality of diagnosis, the DNA methylation outlining will be done to all the brain tumor patients.”
No financial matters disclose by the NYU Langone. Friedberg Charitable Foundation, the Sohn Conference Foundation, and the Making Headway Foundation support the development of DNA methylation classifier and clinical implementation.
Whole research for the DNA methylation classifier is available at this site.