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In genetics, a biomarker (identified as genetic marker) is a DNA sequence that causes disease or is associated with susceptibility to disease. They can be used to create genetic maps of whatever organism is being studied.ne example of a commonly used biomarker in medicine is prostate-specific antigen (PSA). This marker can be measured as a proxy of prostate size with rapid changes potentially indicating cancer.
In addition to studying chromosomes to the level of individual genes, genetic testing in a broader sense includes biochemical tests for the possible presence of genetic diseases, or mutant forms of genes associated with increased risk of developing genetic disorders.his article focuses on genetic testing for medical purposes. DNA sequencing, which actually produces a sequences of As, Cs, Gs, and Ts, is used in molecular biology, evolutionary biology, metagenomics, epidemiology, ecology, and microbiome research.