A biosample is a sample of biological material, including tissue, blood, saliva, plasma, purified DNA, and urine. Biosamples are commonly used in clinical care; for example, tissue biopsies may be used to diagnose cancer and many other diseases. Blood and urine are routinely used to diagnose or monitor disorders. DNA is used to diagnose genetic disease and genetic changes in cancer cells.
Biosamples are also important in research, especially for rare and genetic disorders, and are usually stored in a biorepository. Biosamples from a rare disease community can accelerate research by providing researchers with the samples they need to study the underlying disease process as well as to find and test potential therapies in preclinical studies.