Centralized biorepositories for genetic and genomic research.

MEDICAL PRACTICE IS BEING TRANSFORMED BY MOlecular analyses of biological samples that provide prognostic and diagnostic information for clinical care. The analytical methods and technologies that have accompanied the sequencing of the human genome have been the subject of research on their accuracy, reliability, and precision, but far less attention has been paid to the storage methods and archiving of the specimens required for analysis. Indeed, well-annotated biospecimen collections have enabled the recent identification of genes and genetic loci thought to contribute to susceptibility for several complex diseases. Some of these genomewide association studies were based on governmentsponsored, centralized collections. However, biorepositories with standardized procedures, informatics, and embedded regulatory compliance remain rare and the state of storage of human biospecimens is often decentralized and poorly organized at many of the US medical centers. Human tissue has been collected and stored at medical and research institutions in the United States for more than 100 years. By 2000, more than 300 million human biospecimens had been stored in freezers across the United States with an estimated accrual rate of an additional 20 million specimens annually. In 2004, the National Cancer Institute estimated that it spends more than $50 million yearly on banking samples from cancer patients as part of 125 funded research programs and projects. Academic medical centers historically have discharged the responsibility of biospecimen sample and data storage to individual investigators who have developed “home remedies” to meet specific research objectives, often with limited resources and inconsistent funding. The result is a decentralized system of ad hoc solutions that, despite facilitating great advances, often lack standards, are inefficient, and create a liability for the institutions and their researchers. Most institutions today cannot readily access a list of samples stored on institutional premises, let alone ascertain the conditions under which they are stored or who donated them. With a greater reliance on sample-derived data for genetic and genomic research and clinical care, improved standards and informatics for sample procurement, storage, and analysis are required to maximize the value of tissue collection for research participants, investigators, medical centers, and funding agencies.