Epigenetic modification of DNA is receiving extraordinary attention, as it relates to aging and diseases, such as cancer. Epigenetics is the study of how your behaviors and environment can cause changes that affect gene expression. Unlike genetic changes, epigenetic changes are reversible and do not change your DNA sequence, but they can change how your body reads a DNA sequence.
Much of the research concerning epigenetic modification of DNA revolves around aberrant methylation patterns in cancer. DNA methylation patterns of CpG islands (promoter regions of the DNA where cytosine is found next to guanine) affect gene expression. For example, silencing a tumor suppressor gene through methylation may increase the risk for cancer.
Using machine learning algorithms, we are now able to identify many cancers through a blood test, that identifies CpG methylation patterns that are consistent with the existence of cancer. These specific methylation patterns also allow us to know the tissue of origin for that cancer.
A new blood test, called the "Galleri Test," is now available. The Galleri multi-cancer early detection test detects more than 50 types of cancer through a routine blood draw with a low false-positive rate of 0.5%. The purpose of this test is to detect cancer at a stage before it has clinically manifested; early detection with Galleri could reduce late state cancer diagnoses by more than half, resulting in a 39% reduction of five-year cancer deaths caused by late-stage detection.
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