While most molecular studies of disease continue to focus on mutational analysis, epigenetics—the science of how genes are regulated and impacted by their environment over time—is gaining in importance. And, with the advent of better, faster, cheaper technology, epigenetic testing is starting to make its way into the clinic. “The field of clinical epigenetics is expanding rapidly, especially in cancer,” said Bodour Salhia, M.D., assistant professor of translational genomics at the Keck School of Medicine at the University of Southern California. “The reasons for this include advances in technology and a buy-in to the importance and relevance of the use of epigenetic markers to track diseases.” Another reason for the growing popularity of pre-clinical epigenetics research is the fact that mutational analyses have given inconsistent results. “Genetics has not borne the fruit of predicting disease,” said Zachary Kaminsky, Ph.D., DIFD Mach Gaensslen Chair in Suicide Prevention Research at The Royal’s Institute of Mental Health Research, affiliated with the University of Ottawa. “Epigenetics has potential because it lies at the interface of genes and the environment.” Epigenetic researchers hope this will give them more power to predict risk, diagnose, and potentially treat complex diseases, from cancer and cardiovascular disease to psychiatric disorders.
Several tests that utilize epigenetic markers are already in use in the clinic. For example, a test for SNPRN methylation is used to diagnose Prader-Willi and Angelman syndromes—inherited disorders of the chromosome in neurological, behavioral, and developmental symptoms. In cancer, the FDA-approved Epi proColon and Cologuard tests are used in colorectal cancer screening. Epi proColon detects a hypermethylated promoter region of the SEPT9 gene in cell-free DNA (cfDNA) and Cologuard measures aberrantly methylated BMP3 and NDRG4 promoter regions in a stool sample. But, there are many more markers being studied for future use in the clinic, either alone or in combination with other tests.
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