1. Evolving Models in Patient- driven Biorepositories James O’Leary September 16, 2010

2. Changing landscape of biobanks Single Condition Siloed collections Individual governance Limited data Multi-condition; cross-disease Models for shared infrastructure Group governance Robust data from multiple sources Limited standardization Increased standardized protocols for samples/data Limited role of subjects Dynamic involvement of consumers

3. Changing role of consumers, participants, and disease advocacy organizations

4. Worst case scenario  Insufficient, uninformed patient consent  Small, redundant collections that have no power  Variable phenotyping  Legal structures that provide insufficient protection  Orphaned collections and disillusioned, disenfranchised consumers  Frustrated scientists lacking the tools necessary for their work

5. Why advocacy organizations?  Understand the unmet research needs of the community  Develop trust within the patient community  Leverage scarce resources  Opportunity to facilitate collaboration between stakeholders  Committed to the cause  Stewards of the collection  Bring multiple stakeholders together

6. DAOs are key stakeholders in biobanking  Traditional role of DAOs has transformed into research-focused role  DAOs are establishing and managing biobanks and registries  Surveys to assess DAO involvement in clinical research (2008) and registries and biobanks (2009)

7. Assessing DAO involvement in research  41-item survey instrument - 6 of the questions focused on research registry and biobanking activities –A research registry is an information database that contains patient names, medical information, family histories or other information that can be used for research purposes –A blood or tissue biobank is a collection of blood samples, human tissue or other biological materials that can be used for research  124 responses by DAO leadership Horn, et al. P330 ACMG, 2010.

8. Reported research impact from DAO registry or biobank Types of EngagementN (%) Increased Data Quality29 (58) Reduced Financial Cost11 (22) Increased Participation Rate36 (72) Reduced Research Completion Time19 (38) Minimized Research Participant Risk14 (29) Increased Informed Decision Making28 (57) Increased Amount of Disease Research43 (86) Horn, et al. P330 ACMG, 2010.

9. DAO involvement in biorepositories and registries  40-item survey instrument focusing on biorepositories and registries  37 responses by DAO leadership  13 organizations (35%) were involved with a biorepository, and 15 organizations (41%) were involved with a registry  65% were interested in establishing a biorepository, and 86% were interested in establishing a registry  Cost was the major reason for not establishing a biorepository or registry Horn, et al. HT02, ISBER, 2010.

10. Clinical InformationN (%) Medical Information16 (100) Participant Demographics15 (94) Participant Lifestyle Information8 (50) Family History12 (75) Genetic Information14 (88) Diagnosis/treatment Information16 (100) Other Clinical Information2 (12) Biorepository CollectsN (%) Blood13 (72) Tissue (Frozen)10 (56) Tissue (Formalin)9 (50) Cell Blocks5 (28) Cell Lines7 (39) Other Biological Material3 (17) Desire to Collect other Types13 (81) Horn, et al. HT02, ISBER, 2010.

11. Sample use and storage CharacteristicN (%) Experiments DNA/genomics Analysis9 (64) RNA Expression1 (7) Protein/immunohistochemistry2 (14) Other5 (36) Users Research Consortium5 (31) Any Qualified Researcher12 (75) Other5 (31) Costs Passed on to Researcher9 (50) Location Nonprofit Organization3 (21) Commercial Lab3 (21) University/research Lab8 (57) Government Lab1 (7) Other3 (21) Horn, et al. HT02, ISBER, 2010.

12. Conclusions about DAO- initiated resources  Actively involved in biorepositories and registries  Collect a variety of clinical information - medical information, diagnosis/treatment information, demographics, genetic information, family history, and lifestyle information  Collect a variety of biological samples (blood, tissue, and cell lines), and many desire to collect additional sample types  Expanded DAO-involvement may provide investigators with new resources

13. PXE International video http://www.youtube.com/watch?v=U0ES0yDWryM Sharon F. Terry President & CEO PXE International President & CEO Genetic Alliance

14. Evolving role of the consumer in biobanking  No longer just a “subject” or source of sample  Consumers can be active participants  DAOs can provide venue for participation  Individuals are determining and directing how samples are used  Serving in roles of gatekeepers and caretakers

15. -a proof-of-concept advocacy-initiated biobank with shared infrastructure

16.  Our Vision: We revolutionize access to information and resources to enable translation of research into services  Our Product: We provide registry and biorepository solutions for advocacy organizations to catalyze research for treatments  Our Process: Coop model allowing an extensible, interoperative, cost sharing model

17. http://www.biobank.org/english/View.asp?x=1420

18. Customized biobanking solution Sample Collection Services Collection kit distribution: DNA, RNA, Tissue Sample collection protocols Sample accessioning and management Clinical Data Management and Analysis Application Service Provider (ASP) model TRIMS hosting of all clinical and sample data Genesis clinical data mining Direct VPN access for member organizations to TRIMS and Genesis interfaces Web interface for clinical data entry by donors via member-defined questionnaires Sample Processing DNA isolation and aliquoting Web sample tracking, reporting and sample distribution request portal RNA isolation, expression profiling, SNP genotyping on request Cell processing and cell line generation Inventory management and billing databases

19. GABB vendors and partners

20. Information Management Portal  Through the online portal: –Enter demographic data –Accession donors –Request kits –Generate reports Donor Report Donor Accession Report Site Inventory Report Kit Status Report

22. A tool for assessing registries and biobanks

23. Biobank evaluation tool for DAOs and landscape analysis  Developed criteria that may inform DAOs in selecting registry or biorepository vendors  Assessed 22 registries and biorepositories that may offer suitable platforms and infrastructure for DAOs  Identified appropriate, customizable, extensible, scalable solutions for DAOs that provide superior patient protections and allow for data exchange Horn, et al. Biopreservation and BioBanking. June 2010, 8(2): 115-117.

25. Lessons learned  Capacity for registries and biorepositories vary across vendor organizations, and <15% surveyed have both registry and biorepository solutions  The focus of registries and biorepositories is determined by owner needs and host capabilities, and DAO needs may differ from other stakeholders  Any system that is to provide a robust infrastructure must not only keep pace, but also envision the future beyond its own structure Horn, et al. Biopreservation and BioBanking. June 2010, 8(2): 115-117.

26. Privacy - an important consideration

27. Privacy  An important concept to all consumers  Attitudes about privacy may be influenced by an individual’s health  Public perception of privacy will influence research  Individual control of samples will influence research

28. The privacy equation? risks for the general population benefits for the ‘sick’ population

29. Changing landscape of biobanks Single Condition Siloed collections Individual governance Limited data Multi-condition; cross-disease Models for shared infrastructure Group governance Robust data from multiple sources Limited standardization Increased standardized protocols for samples/data Limited role of subjects Dynamic involvement of consumers

30. The landscape continues to change  Depth and magnitude of data –Digital data sources, EHRs –Patient reported outcomes, PHRs  Advances in technology  Partners involved in data collection  DAOs active in research  Informed participants  Public perception of sample storage  Evolving privacy concerns

31. Engaging the consumer  Information about the research study  Choices on how samples are used  The informed consent process  Research updates  Build community/spread the word through experience/social networking and transparency  Involve DAOs and other groups  Retention is key - it is much harder to recruit new participants than to keep those that are already participating

32. Seldom is it that ordinary people like myself get to participate at any level in extraordinary events. I see donating blood to the BioBank as one of those events. ---Genetic Alliance BioBank Participant

33. Collaborators Genetic Alliance Sharon Terry Liz Horn BioBank Joan Scott Claire Driscoll Member Organizations Gene Logic Tom Thomson Mary Barcus Maya Neyman Private Access Robert Shelton Marc Kirshbaum Cassie Hoag PXE International Pat Terry Lionel Bercovitch Chris Vocke Terry Mac Dermaid www.geneticalliance.org www.biobank.org www.privateaccess.com www.pxe.org www.genelogic.com

34. Transforming Health Through Genetics Openness is our product and process Shared infrastructure to transform health is our goal Network of 10,000 organizations, universities and companies