Lifecycle of Biospecimens

How Are Biospecimens Used in Research?

Following the mapping of the Human Genome in 2001, biological research has moved into what is called the “genomic age.” This designation refers to the ability of scientists to study disease at the most basic “molecular” level, by identifying genes and their function, and understanding the role genetics plays in the origin and progression of disease. Other emerging fields of study include proteomics — the study of the full set of proteins encoded by the genome — and pharmacogenomics, which seeks to link the human genome to variation in patient response to pharmaceuticals.

In addition to molecular information, scientists are also analyzing a vast amount of clinical information from patient records and clinical trials. From this data, it is possible to identify patterns that provide a pathway to understanding disease sub-types, and potential strategies for diagnosing and treating disease in new and more effective ways.

Human biospecimens can provide a bridge between emerging molecular information and clinical information, by enabling researchers to study the molecular characteristics of actual disease, and then correlating those patterns with what is known about the clinical progression of the disease. Specifically, human biospecimens can be used to:

• Identify and validate drug targets
• Identify disease mechanisms
• Develop screening tests for “biomarkers” associated with certain sub-types of a disease
• Group patients based on their genetic characteristics and likelihood of positive response, for testing of new drugs
• Group patients based on the “biomarkers” of their disease to determine which treatment is appropriate