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Registry and Biorepository Bulletin
Brought to you by Genetic Alliance Registry & BioBank
25 May 2012 Issue #27


ISBER’s Best Practices Updated

The International Society for Biological and Environmental Repositories (ISBER) has updated the 2012 Best Practices for Repositories to include two new sections. The first covers cost management, providing guidance on assessing costs during the development of a repository and analyzing the ongoing costs associated with the maintenance and operation of the repository. The second, Specimen Access, Utilization, and Destruction, addresses issues on data sharing, including the proper transfer of specimen-specific and donor-specific data, and security concerns for the distribution of data. ISBER's Best Practices for Repositories reflect the collective experience of its members and has received broad input from other repository professionals. The best practices document presents effective practices for the management of specimen collections and repositories.

California Genetic Privacy Bill

Senate Bill 1267, a genetic privacy bill introduced by Senator Alex Padilla, is currently under review in California. SB 1267 provides that “no genetic material can be collected, analyzed, shared and stored without a person’s written consent. The bill would impose civil and criminal penalties and fines for taking and testing a person’s genetic material.” If passed, there are consequences for biobankers. The primary concern is the bill’s requirement that each and every specimen recipient of the research chain (e.g. derivatives, secondary use, etc.) obtain authorization to use specimens for genetic research. This applies even if the specimen is de-identified. Civil and criminal penalties will apply in the case of violation. Many institutions, research organizations, biobanking facilities, and advocacy groups are concerned about the research implications if this bill passes, and the potential precedent for biobanking activities in other states.

Read University of California’s detailed response to SB 1267.

Natural History Studies

The National Center for Advancing Translational Science (NCATS) held a workshop on Natural History Studies of Rare Diseases, May 16-17, 2012, on the NIH Campus. A major reason that new therapies fail is due to lack of good natural history studies (NHS). NHS are used to develop diagnostic guidelines, identify biomarkers, and educate both the medical community and the patient community about a disease or condition. Because NHS are disease specific, and not therapy specific, it is appropriate to conduct them outside of the traditional therapeutic development program. Extensive front end planning is essential for effective NHS, and a critical mass of investigators, research sites, and active patient advocacy groups are needed. Advocacy groups are vital contributors to the development and implementation of contact registries and patient registries, key steps for NHS. It is also relevant to note that NHS for academic publication are not equivalent to NHS for regulatory submission.

View presentations from the NIH Natural History Studies Workshop.

Limiting Freeze/Thaw Cycles

A recent article in Biobanking and Biopreservation examined the effects of repeated freeze/thaw cycles on genomic DNA integrity. Samples were isolated by standard extraction protocols (phenol/chloroform and commercially available protocols), and subjected to more than 18 freeze/thaw cycles using several standard freeze/thaw protocols. Samples were then examined by pulsed field gel electrophoresis. There was progressive degradation of DNA over multiple freeze-thaw cycles. DNA larger than 100 kb was most sensitive to degradation, and at freeze/thaw cycle 18, the average DNA size was 25 kb. Increasing the concentration of stored samples (to 100 μg/mL) had some protective effects. This study provides additional evidence that freezing and thawing of DNA samples should be limited.

Biospecimen Research Database

The Biospecimen Research Database (BRD) is a free and publicly accessible database that contains peer-reviewed literature pertinent to the field of human biospecimen science.  BRD is a joint venture of the Office of Biorepositories and Biospecimen Research (OBBR) and the National Cancer Institute Center for Bioinformatics (NCICB). For each paper contained within BRD (1) relevant parameters have been annotated, including the biospecimen investigated (tissue/cell type, patient diagnosis), the preservation method employed, the analyte of interest, and the technology platform applied; (2) relevant results have been summarized in free-text fields; and (3) variables encountered during the lifecycle of a biospecimen (e.g. ischemia time, fixation parameters, storage conditions) have been captured by experimental factors.


Edited by Liz Horn and Sharon Terry.

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