1. NCI Cancer specimen biorepositories

Abstract

High quality biospecimens with appropriate clinical annotation are critical in the era of personalized medicine. It is now widely recognized that biospecimen resources need to be developed and operated under established scientific, technical, business, and ethical/legal standards. To date such standards have not been widely practiced, resulting in variable biospecimen quality that may compromise research efforts. The National Cancer Institute (NCI) Biorepositories and Biospecimen Research Branch (BBRB) was established in 2005 to coordinate NCI’s biospecimen resource activities, and address those issues that affect access to the high quality specimens and data necessary for its research enterprises, as well as the broader translational research field. BBRB developed NCI’s Best Practices for Biospecimen Resources after consultation with a broad array of experts. A Biospecimen Research Network was established to fund research to develop additional evidence-based practices. Projects are in progress to study preanalytical variables that may affect biospecimen quality and suitability for proteomic and genomic analyses. BBRB is also engaged in the NIH Genotype Tissue Expression (GTEx) Project, for which we have implemented a complex biospecimen collection and processing infrastructure that will result in analyses of genetic variation and gene expression across many tissues, to aid in the interpretation of genome-wide association study hits, to help prioritize therapeutic targets, and to further our understanding of genome regulation.