Centralized Biobanks are Critical, Especially for Research on Rare Diseases

Posted by François Hamy, Ph.D on Dec 5, 2013 9:30:00 AM

UK biorepositoryAn Inside Biobanking blog posted on October 11, 2013, "How a Biobank Is Enabling Improved Sarcoma Research", highlighted the need for third party biobanks for researchers investigating rare diseases, and mentioned the sarcoma research biobank as a case in point. Sarcoma research is hindered by the fact that sarcomas are quite rare, with only 15,000 new cases appearing per year in the US. This represents about one percent of the 1.5 million new cancer diagnoses in that country each year.

However, research into any disease is hindered by the lack of collaboration and sharing of samples and data. Europe is working steadily to overcome this issue, and may be well ahead of the US. The Biobanking and BioMolecular Resources Research Infrastructure (BBMRI) in Graz, Austria, is a primary example. The BBMRI aims to provide the large sample sizes needed for research into all diseases, although cancer will be a primary focus. Another is the onCore UK, which is a national central biorepository.

In the US, the National Cancer Institute’s National Biospecimen Network is still in a very early stage, although other organizations in the US have forged ahead. For instance, the sarcoma biobank mentioned earlier is being established by the US Sarcoma Alliance for Research through Collaborations (SARC), which supports clinical trials and conducts other activities for the prevention, treatment and cure of sarcomas. Even more significantly, perhaps, is that SARC has opted for building a biobank of these samples with two critically important features.

The first feature is that the samples will be stored in a single, central location, which will ease access to the entire collection. The second is that they chose a third party (Nationwide Children’s Hospital in Columbus, Ohio), to ensure the samples were managed according to best practices and standardized processes.

laboratory processing researchAnother example is the US Center for Disease Control and Prevention (CDC) established a biobank for the study of birth defects, which afflict about 120,000 newborns a year. Birth defects include a spectrum of genetic and other disorders, and the CDC biobank combined specimens collected by the National Birth Defects Prevention Study and projects conducted by the CDC’s Division of Blood Disorders to create a single research resource.  The CDC, like SARC, contracted with a central, professional organization to manage this collection for maximum biospecimen integrity and access by investigators.

There is little doubt that these centralized biobanks will be a valuable tool for researchers in these fields, and should serve as an example for other research areas where scarcity of well documented samples hinders progress of translational medicine.

Given that translational medicine is dependent on “omics” methods (genomics, transcriptomics, proteomics, metabolomics, epigenomics, immunomics), researchers need a comprehensive series of clinical specimens (serum, plasma, whole blood, high quality DNA/RNA, and live cells) that are well managed and well documented.

I would add that the more rare the disease, the greater the need for a centralized, independently managed biobank to maximize access. The US National Institutes of Health (NIH) has an Office of Rare Diseases Research (ORDR) that is compiling a virtual rare diseases repository. The ORDR’s website features a database of biospecimens in repositories around the world, which is a step forward. However, this effort is entirely dependent on individual researchers or institutions volunteering access and maintaining the database.

As shown by onCore UK and BBMRI, a centralized biobank, professionally managed by a trusted partner, frees both researchers and institutions from issues such as the harmonization of standards for collection and storage, tracking of consent, and the barriers occasionally presented by a sense of local ownership of the samples and data. If you are interested in more information related to this topic, read our eBook (see button below) on "Automating Your Sample Collection for Biobanking: 10 Things to Consider" by Kathleen Groover, Ph.D., Project Director.

Organizations like SARC, whether in the US or Europe, that are dedicated to the treatment and cure of a specific disease, and also serve as a patient resource and source of funding, may be in the best position to create a central, professionally managed, biobank to focus on a specific disease. Are you part of a research alliance or network or similar 501(c)(3) non-profit organization? Is it past time to establish a biobank to further your goals?

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