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March 19, 2008

Centralized Biorepositories for Genetic and Genomic Research

Author Affiliations

Author Affiliation: Duke University, Institute for Genome Sciences & Policy, Durham, North Carolina.

JAMA. 2008;299(11):1359-1361. doi:10.1001/jama.299.11.1359

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.1 Some of these genome-wide association studies were based on government-sponsored, centralized collections.2-4 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.