The Human Genome Project was a decade-long endeavor to determine the complete DNA sequence of humans. Prior to the completion of this project, researchers focused primarily on understanding the biological mechanisms that resulted in a disease. For instance, diseases such as cystic fibrosis and Huntington’s disease were shown to be the result of single genes that were either dysfunctional or missing in affected individuals.
With the draft sequence completed in 2003, researchers have now turned their focus from the actual sequencing of the genome to utilizing the information resulting from it to improve detection, treatment, and prevention of deadly and debilitating diseases.
According to the National Cancer Institute:
“Following the mapping of the Human Genome in 2000, 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 human 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 (such as specific genes or gene products)
- 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”
National Cancer Institute, Office of Biorepositories and Biospecimen Research website, Frequently Asked Questions, http://biospecimens.cancer.gov/resources/faqs.asp.
Biobanks are a critical resource for such molecular-based biomedical research. The data, biospecimens – such as tissue or blood – and molecular components that they collect, test for quality, and then distribute to researchers are absolute requirements in the pathway to developing modern diagnostics and cures for human disease.
