Biospecimens and Biorepositories: Recovery Act Investment Report
Public Health Burden of Cancer
Cancer is the second leading cause of death in the United States after heart disease. In 2009, it is estimated that nearly 1.5 million new cases of invasive cancer will be diagnosed in this country and more than 560,000 people will die of the disease.
Biobanking is the process of storing biospecimens in biorepositories. Biospecimens are materials from the human body, such as blood, tissue, plasma, urine, or saliva. They are typically obtained during a biopsy, surgery, or other medical procedures. These materials contain important biological information, including DNA, RNA, proteins, and other molecules that can help in diagnosing diseases, determining the prognosis of patients, and selecting the most appropriate treatments.
Biospecimens can also be processed and stored in biobanks or biorepositories, essentially specialized "libraries" of specimens that can be used for future medical research. Stored biospecimens are often tagged or "annotated" with information about the donor. Annotations may include information about the person's age, sex, and ethnicity, as well as information about environmental exposures, such as diet, tobacco smoke, sunlight, and chemicals, the person has experienced. Protecting the privacy and integrity of this personal and medical information is one of a biorepository's highest priorities.
Biobanking and Cancer Research
Cancer researchers need access to an ample supply of high-quality biospecimens in order to explore new ways to diagnose and treat the disease. Questions raised during the research process often can only be answered by analyzing hundreds or thousands of patient samples. For example, a researcher may wish to examine a variety of breast cancer biospecimens in order to identify the molecular characteristics of the disease at various stages in its development. This information could provide greater insight into how breast cancer progresses and help uncover new ways to treat it.
High-quality biospecimens are also critical to ongoing efforts to develop personalized medicine, in which therapies are tailored to individual patients based on their unique genetic characteristics and the specific molecular features of their disease. Biospecimens can be used to identify cancer-related proteins or other biomarkers that could lead to new screening or diagnostic tests. Biospecimens can also help researchers determine which treatments will be the most appropriate, effective, and least toxic based on a person's cancer-related biomarkers or genetics.
For biospecimens to be maximally useful for cancer research, a number of systemic challenges need to be addressed. Often there are not enough high-quality, well-documented biospecimens available for researchers to analyze in order to make scientifically-relevant discoveries. A lack of standardized protocols and protocol adherence for the collection, processing, storage, retrieval, and distribution of biospecimens affect the reliability and reproducibility of research based on these materials. Moreover, there is no infrastructure in place to ensure access to biorepositories and their biospecimens across the cancer research community.
ARRA Funding for Biobanking and Biospecimen Analysis Projects
ARRA funds distributed by the National Cancer Institute (NCI) are supporting a variety of biorepository and biospecimen analysis projects, as well as a major initiative to develop a national repository of biospecimens that can be used for medical research.(1) This initiative—called the cancer Human Biobank (caHUB) Initiative—is designed to develop a national, standardized human biospecimen resource. No centralized, standardized infrastructure of this type exists in the United States.
The caHUB Initiative will modernize biobanking in a number of ways. It will serve as a national repository of biospecimens that have been collected according to the highest technical, ethical, and privacy standards. It will also provide researchers access to a database of information associated with the biospecimens. It will conduct research that supports evidence-based biospecimen best practices, including research on how collection, processing, storage, and distribution of biospecimens affect their molecular properties. This unique resource will ensure an adequate supply of high-quality human biospecimens to accelerate research and development activities without compromising patient privacy or threatening competitive interests, ultimately allowing all stakeholders to contribute to and benefit from it.
Other types of biobanking projects supported by ARRA funding include:
- Developing and Expanding Category-Specific Biorepositories. Three ARRA funded projects will facilitate the advancement of category-specific biorepositories. Between 1996 and 1999, researchers collected blood and urine specimens from more than 29,000 participants in the Nurses' Health Study. By creating a large biorepository of new samples from the same participants now 10 years later, researchers hope to be able to study associations between biomarkers of exposure and cancer risk over time.(2) This may in turn shed new light on how cancer develops and help identify potential prevention methods. Another project seeks to create a biorepository of blood, buccal cells, and/or urine from 90,000 men and women, nearly 70% of whom are African American, and continue following the participants to identify deaths and cancer incidence.(3 )Annotating the biospecimens with regular patient input will help researchers assess the origins of the unexplained higher cancer rates among African Americans, develop new cancer prevention measures, and lower cancer rates among minorities. Additionally, the Breast Cancer Family Registry will be using ARRA funds to expand its resources, including libraries of biospecimens from breast cancer patients and at-risk family members, and fund follow-up information gathering and storage from participants currently in the registry.(4)
- Analyzing Biospecimens. Biospecimen studies are also underway to explore the causes and influences of cancer risk among various groups. Although glioma is among the most lethal of cancers, few case-control studies of glioma have been undertaken and the origins of this disease are largely unknown. One ARRA funded study will examine biomarkers from specimens of 1,200 glioma patients to explore genetic susceptibility and environmental exposure risk factors for this cancer.(5) Another study will examine biomarkers among multiethnic populations, including Japanese Americans, Caucasians, African Americans, Latinos, and Native Hawaiians, to examine nutritional and genetic risk factors for colorectal cancer, ethnic and geographic variations in breast cancer risk, the role of infection in prostate cancer risk, and inflammatory and nutritional influences on non-Hodgkin lymphoma risk.(6)
- HHSN261200800001E N01CO-2008-00001 — contract to support The cancer Human BioBank (caHUB), SAIC-Frederick (MD)
- 3R01CA067262-14S1 — Premenopausal hormone levels and risk of breast cancer — Hankinson, Susan E. (MA)
- 3R01CA092447-08S1 — Southern Community Cohort Study — Blot, William J. (TN)
- 3U01CA069417-15S1 — Northern California Cooperative Family Registry for Breast Cancer — John, Esther M. (CA)
- 3R01CA116174-03S1 — Southeast Region Case-Control Study of Adult Glioma — Egan, Kathleen M. (FL)
- 2P01CA033619-21A1 — Molecular epidemiology of nutrition and cancer in the multiethnic cohort study — Kolonel, Laurence N. (HI)