Genetic Alliance BioBank

Genetic Alliance BioBank Executive Summary

The Genetic Alliance BioBank was founded in 2003 by leaders in the research advocacy field. It is establishing a centralized biological and data [consent/clinical/environmental] repository to enable translational genomic research on rare genetic diseases. The BioBank works in partnership with academic and industrial collaborators to develop novel diagnostics and therapeutics to better understand and treat these diseases. The BioBank will include a state-of-the-art, web-based informatics core, which is suitable for both research and product development [FDA compliant] studies. The centralized management and infrastructure of the BioBank provides a relatively cost-effective mechanism by which individual advocacy organizations for the first time can pursue sophisticated, novel research collaborations.

In recent decades biorepositories have tended to illustrate science at its worst: insufficient, uninformed patient consent; small, redundant collections that have no power; and legal structures that provide insufficient protection for the rights of both patients and researchers. Too often the result has been orphaned collections, disillusioned, disenfranchised patients, and frustrated scientists lacking the tools necessary for their work. The Genetic Alliance BioBank is built upon the lessons of the past, and has a practiced eye on the technology that will change the future. It presents a new paradigm, one in which the motivations and rights of all players are acknowledged and protected.

Similar to other research organizations, the founding advocacy organizations of the BioBank consistently experience significant challenges in executing rare disease research . These include: limited cohort size, variable disease phenotyping, limited bio-sample & data repositories, fragmentation/lack of scale, ineffective privacy and data security, limited funding resulting in limited research, and poor feedback to participants. The BioBank acknowledges and addresses these issues via the following key functions:

1. Recruits donors to the bank, in the context of the advocacy organizations community, using state-of-the art methods that emphasize trust, privacy protections, data security, empowerment of participants and the member advocacy groups, and ongoing education.
2. Provides a robust and dynamic method for the informed donor decision-making process, leading to truly informed consent, tailored to specific uses of the samples and related information. The system provides for dynamic re-contacting and reconsenting as the need arises.
3. Provides a state of-the-art storage facility and system for collection and archiving of DNA, tissue and cell lines.
4. Provides a BioBank informatics core that encodes identifiers in a centralized database. The database, similar to the sample repository, will be owned and maintained by the advocacy organization, and enable re-contact by the researchers to the (anonymous) donors.
5. Provides sophisticated study management suitable for regulatory-grade filings and research.
6. Raises the resources necessary to develop both the infrastructure and the enrollment of the bank.
7. Facilitates collaboration of academic, government and industrial partnerships.

The BioBank is developing these functions in two phases. Phase I included functions 1 through 3. Phase II involves functions 4 through 6. The 7th function is ongoing and is occurring throughout both phases.

Phase I began in January 2002, and resulted in the incorporation of the BioBank in October 2003. At present, seven foundations have banked DNA, tissue and cell lines with the BioBank at this facility. BioBank members are bound by membership agreements and have IRB approval for their protocols. All of the protocols, template documents and procedures have IRB approval.

The BioBank is governed by representatives of the participating advocacy organizations and experienced outside directors from a variety of disciplines:

Sharon Terry, President (Genetic Alliance and PXE International) Joan Scott, Treasurer (Genetics and Public Policy Center, Johns Hopkins University) Patrick Terry, Secretary (PXE International, Genomic Health, Personalized Medicine Coalition, International Genetic Alliance), Claire Driscoll (National Human Genome Research Institute) Elizabeth Horn (National Psoriasis Foundation) Owen Johnson (Inflammatory Breast Cancer Research Foundation)

Through a contract with PreventionGenetics of Marshfield, WI, the BioBank collects, stores and distributes samples in accordance with the procedures and specifications determined by the Genetic Alliance BioBank™s board of directors and approved by the BioBanks Institutional Review Board, exceeding the requirements of all applicable federal, state and local laws, rules and regulations. The sample facility is managed by pioneers in the art of research advocacy organization banking.

Phase II of the BioBank has begun. Critical to the success of this model is the BioBanking and Research Management IT infrastructure. The Genetic Alliance will be using a clinical data structure to allow:

Swiss Banking Grade privacy and confidentiality protection via a highly secure, validated IT infrastructure [i.e., HIPAA, Regulatory compliant].

1. Effective data aggregation via a scalable web-based architecture.
2. Integration of all required clinical research management tools to enable online consent, enrollment, clinical and genomic data capture, and sample and genetic data banking.
3. The ability to reuse and share patient resources across research networks.
4. Integration of molecular datasets, linking the molecular characterization platform and BioBank.
5. Utilization of data representation standards for effective data exchange and mining.

Internal Links

• Barriers to Rare Disease Research
• Benefits of Collaboration with Advocacy Organization Community
• Consumers and Researchers
• Educating Membership about Research
• Facilitating Quality Research
• Funding Research by Others
• Getting Needs onto the Research Agenda
• Genetic Privacy
• Orphan Drug Application
• Patient's Bill of Rights
• Promoting Research
• Registries
• Research Models
  • Research Model 1: Recessive Disorder
  • Research Model 2: Chromosomal Disorder
  • Research Model 3: Dominant Disorder