Biospecimen Science
Biospecimens are derived from living cells & biomolecules
These biological elements, far from being inert, are active and reactive and may become modified when subjected to the kinds of environmental changes and biological stresses introduced by the processes of acquisition, handling, storage, and transport.
Peri- and intraoperative variables can affect biospecimen quality
Even during the period prior to acquisition, when the specimens are still in situ within the patient or donor, various interventions may alter the biological environment of the specimen and cause it to react adaptively. Such alterations can occur for biospecimens acquired through major surgical procedures and autopsies as well as for specimens collected under various conditions in population-based studies. These variables may profoundly change the molecular composition or profile of the biospecimen within short periods of time. Although these represent artificial changes, they risk being misinterpreted as disease-related or even disease-specific.
There is a considerable lack of scientific data assessing the effects of specimen handling variables on molecular testing of human tissues. New research in Biospecimen Science will define the precise relationships between biospecimen handling and the quality and reproducibility of data for cancer research.
This is the century of the genome
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.
Biospecimens enable effective cancer research
In addition to molecular information, scientists are also analysing 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
Further reading
- NCI Best Practices for Biospecimen Resources - American National Cancer Institute
- Human research ethics - National Health & Medical Research Council of Australia
