This leading-edge molecular assay utilizes DNA epigenetic signatures and artificial intelligence with machine learning to correctly identify and subtype brain tumors. NYU Langone Health is the first Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory in the United States to receive state approval (New York State Department of Health) for whole genome DNA methylation for diagnosis and classification of brain tumors.
The CLIA regulate laboratory testing and require clinical laboratories to be certificated by their state as well as the federal government's Center for Medicare and Medicaid Services (CMS) before they can accept human samples for diagnostic testing.
Laboratories can obtain multiple types of CLIA certificates, based on the kinds of diagnostic tests they conduct. Three federal agencies are responsible for CLIA: The Food and Drug Administration, CMS, and the Centers for Disease Control and Prevention. Each agency has a unique role in assuring quality laboratory testing.
NYU Langone's Department of Pathology collaborated with the German Cancer Research Center (DKFZ), Heidelberg, on the development of an epigenetic map of brain tumors reported in a scientific paper published in Nature in 2018.
"The study showed that 10 to 14 percent of brain tumors may be misdiagnosed using traditional diagnostics. We knew that DNA methylation can provide us with additional information not available by traditional techniques," says Matija Snuderl, MD, director of Molecular Pathology and Diagnostics and a member of Perlmutter Cancer Center, who participated in the development of the methylation classifier and performed the clinical validation at NYU Langone.
John G. Golfinos, MD, chairman of NYU Langone's Department of Neurosurgery, adds, "NYU Langone Health will offer DNA methylation profiling to all patients with brain tumors to ensure highest diagnostic quality."
The research version of the classifier is available as a free cloud-based resource at https://www.molecularneuropathology.org.
NYU Langone and the doctors disclosed no financial interests.
The DNA methylation classifier development and clinical implementation was supported by the Friedberg Charitable Foundation, the Sohn Conference Foundation and the Making Headway Foundation.