Genetic Alliance BioBank Logo
Registry and Biorepository Bulletin
Brought to you by Genetic Alliance Registry & BioBank
21 December 2012 Issue #32

Willingness to Participate in a Biobank

A recent study evaluated the willingness of 4,217 women, ages 21-89, to donate blood or saliva for future research at the time of a mammogram. Individuals were more likely to donate if they had a college education, were older, had a previous biopsy, or had a family connection to breast cancer. Of women who expressed a willingness to donate (66%), only 56% actually provided a biospecimen. Privacy concerns were the most common reason for not donating a sample. Researchers also observed that Asian American women were less likely to donate, and tailored recruitment methods may be needed for this group of women. The authors also noted that privacy concerns should be addressed to create a culture for biospecimen donation, and existing databases could then be expanded to include a more representative population.

RNA Stabilization

The Norwegian Mother and Child Cohort Study (MoBa) recently evaluated the feasibility of incorporating RNA analysis into their current protocols, which includes transporting collected blood samples by standard mail. Two RNA collection systems were compared, the PAXgene Blood RNA system and the Tempus Blood RNA system. Both collection systems offered high quality RNA extractions, however RNA yields from the Tempus tubes (5.3+0.2 µg/ml of adult blood, and 21.6+3.8 µg/ml of cord blood) were much higher than the PAXgene tubes (2.1+0.2 µg/ml adult blood, and 7.8+1.7 µg/ml cord blood), p<0.05. With both types of tubes, cord blood RNA yields were greater than RNA yields from adult blood. While transportation did have a modest effect on RNA quality and stability, overall RNA quality was high. With proper storage, and transport, RNA can be obtained from blood samples using both collection systems successfully. Blood samples routinely collected by biobanks can yield viable RNA, however, the authors advocate the use of specialized collection tubes necessary for RNA stabilization.

Clinical Data as Trade Secrets?

Genetic testing is moving forward at an increasingly rapid pace, and much of the progress is in cataloguing data vital to interpreting genetic variations, and recognizing variants of unknown significance (VUS). However, a considerable amount of tests are available only through sole providers, and some providers have created proprietary databases containing information necessary for interpreting test results. Robert Cook-Degan and colleagues describe the implications of proprietary databases on clinical interpretation of genetic tests and genomic medicine, using Myriad Genetics, the sole provider of BRAC 1/2 genetic tests in the US, as an example. Because of their proprietary clinical data and access to discoveries made by others submitted to public databases, Myriad has been able to provide more accurate results surrounding VUS when compared to its European competitors. Many believe there is the potential for adverse effects on future innovation if clinically relevant data isn’t made available to all who could make use of it. The authors provide a detailed explanation of the Myriad situation as well as suggest incentives for sharing data and interpretive algorithms. These incentives include “promoting voluntary sharing; requiring laboratories to share as a condition of payment for or regulatory approval of laboratory services; establishing – and compelling participation in – resources that capture the information needed to interpret the data independent of company policies; and paying for sharing and interpretation in addition to paying for the test itself.” This will continue to be a topic of thoughtful discourse as new and established firms enter the European testing market.

Registry of Patient Registries

Registry of Patient Registries (RoPR), sponsored by the Agency for Healthcare Research and Quality (AHRQ), launched on December 1, 2012. RoPR is a database of existing patient registries designed to promote collaboration, reduce redundancy, and improve transparency in registry-based research. The RoPR is now accepting registrations of new and existing patient registries. List your registry today.

100 Weekly BioBank Tips

For the past two years, Genetic Alliance Registry & BioBank has provided a weekly tip about establishing and maintaining a registry and/or biorepository. View all 100 tips in the archive.

Upcoming Meetings

Registration for the ISBER (International Society for Biological and Environmental Repositories) 2013 Annual Meeting, Turning the World Upside Down: Emerging Perspectives on Biorepositories, May 5-9, in Sydney, Australia is now available. The advanced registration deadline is March 5, 2013.

Except where otherwise noted, content on this site is licensed under a
Creative Commons Attribution 3.0 License.