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What are Biomarkers?


Defined as cellular, biochemical, or molecular alterations, biomarkers are specific, and often unique, biologic features. This testing is often used to indicate the presence of a particular disease or infection, determine the risk for developing a disease, and predict how a patient’s condition will likely progress. With pathogenic samples, the biologic features studied are typically specific to viruses, bacteria, germs, and cell abnormalities.

Different Types of Molecular Biomarkers

DNA is analyzed to look for genomic biomarkers, including mutations unique to tumor cells in cancer patients. RNA molecules are analyzed to isolate transcriptomic biomarkers to predict therapeutic responses for patients. Proteomic biomarkers identify changes to proteins and protein interactions. Antigens in cells are identified with cellular biomarkers that can isolate cells triggering a response from the immune system. Early disease detection involves testing for imaging biomarkers captured with image-based tests like MRI scans and X-rays.

Patient Screening

Patient screening often involves attempts to ID common forms of cancer early, although there’s research suggesting there are biomarkers that may indicate a patient’s odds of developing Alzheimer’s disease and similar conditions associated with cognitive decline. While typically involving an analysis of gene structures, screening techniques are also being used to develop risk scores shortly after birth for diseases like type 1 diabetes — and the same ability may soon be possible for type 2 diabetes.


Disease diagnosis is a common use of biomarker testing involving the identification of an organism’s measurable characteristics. Results of such tests have a history of being used to diagnose infections, specific types of cancer, diabetes and complications related to it, immunological and genetic disorders, and cardiovascular disease. And research is being done to determine if there are other diagnostic applications, especially with the identification of conditions related to chronic diseases like diabetic neuropathy (nerve damage).

Patient Prognosis

Fluid- and tissue-based biomarkers may track the progression of a disease from very early stages through its end stages. A practical example is the collection of samples to determine how patients with cancer may respond to immunotherapy. There’s also research suggesting certain immune biomarkers may predict patients’ likely responsiveness to flu vaccines.

Biomarkers are another important resource doctors use to improve overall patient care. Biologic features alone do not guarantee that a patient will develop a certain disease. However, such information combined with knowledge of a patient’s medical history and general health can allow doctors to provide more specific advice, including suggested lifestyle changes and preventative screenings that may be beneficial.

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