evolving models in patient- driven biorepositories james o’leary september 16, 2010
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Evolving Models in Patient-driven Biorepositories
James O’Leary
September 16, 2010
Changing landscape of biobanks
Single ConditionSingle Condition
Siloed collectionsSiloed collections
Individual governanceIndividual governance
Limited dataLimited data
Multi-condition; cross-diseaseMulti-condition; cross-disease
Models for shared infrastructureModels for shared infrastructure
Group governanceGroup governance
Robust data from multiple sourcesRobust data from multiple sources
Limited standardizationLimited standardization
Increased standardized protocols for samples/dataIncreased standardized protocols for samples/data
Limited role of subjectsLimited role of subjects
Dynamic involvement of consumersDynamic involvement of consumers
Changing role of consumers, participants,
and disease advocacy organizations
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
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
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)
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.Horn, et al. P330 ACMG, 2010.
Reported research impact from DAO registry or biobank
Types of Engagement N (%)Increased Data Quality 29 (58)Reduced Financial Cost 11 (22)Increased Participation Rate 36 (72)Reduced Research Completion Time 19 (38)Minimized Research Participant Risk 14 (29)Increased Informed Decision Making 28 (57)Increased Amount of Disease Research 43 (86)
Horn, et al. P330 ACMG, 2010.Horn, et al. P330 ACMG, 2010.
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.Horn, et al. HT02, ISBER, 2010.
Clinical Information N (%)Medical Information 16 (100)Participant Demographics 15 (94)Participant Lifestyle Information 8 (50)Family History 12 (75)Genetic Information 14 (88)Diagnosis/treatment Information 16 (100)Other Clinical Information 2 (12)
Biorepository Collects N (%)Blood 13 (72)Tissue (Frozen) 10 (56)Tissue (Formalin) 9 (50)Cell Blocks 5 (28)Cell Lines 7 (39)Other Biological Material 3 (17)Desire to Collect other Types 13 (81)
Horn, et al. HT02, ISBER, 2010.Horn, et al. HT02, ISBER, 2010.
Sample use and storageCharacteristic N (%)Experiments DNA/genomics Analysis 9 (64) RNA Expression 1 (7) Protein/immunohistochemistry 2 (14) Other 5 (36)Users Research Consortium 5 (31) Any Qualified Researcher 12 (75) Other 5 (31) Costs Passed on to Researcher 9 (50)Location Nonprofit Organization 3 (21) Commercial Lab 3 (21) University/research Lab 8 (57) Government Lab 1 (7) Other 3 (21)
Horn, et al. HT02, ISBER, 2010.Horn, et al. HT02, ISBER, 2010.
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
PXE International videohttp://www.youtube.com/watch?v=U0ES0yDWryM
Sharon F. Terry
President & CEO PXE International
President & CEO Genetic Alliance
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
-a proof-of-concept advocacy-initiated biobank with shared infrastructure-a proof-of-concept advocacy-initiated biobank with shared infrastructure
Our Vision: We revolutionize access to information and resources to enable translation of research into servicesOur Product: We provide registry and biorepository solutions for advocacy organizations to catalyze research for treatmentsOur Process: Coop model allowing an extensible, interoperative, cost sharing model
http://www.biobank.org/english/View.asp?x=1420http://www.biobank.org/english/View.asp?x=1420
Customized biobanking solutionSample 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
GABB vendors and partners
Company Services URL Exam One Contract phlebotomy services www.examone.com Gene Logic Biorepository, TRIMS registry,
Genesis data mining software, Clinical questionnaire interface
www.genelogic.com
NCBI Database of Genotype and Phenotype (dbGaP)
www.ncbi.nlm.nih.gov/gap
Private Access Dynamic online consenting, clinical trial matching, medical records management
www.privateaccess.info
Rutgers University Cell processing and cell line development
www.rucdr. org
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
A tool for assessing registries and biobanks
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.Horn, et al. Biopreservation and BioBanking. June 2010, 8(2): 115-117.
Horn, et al. Biopreservation and BioBanking. June 2010, 8(2): 115-117.Horn, et al. Biopreservation and BioBanking. June 2010, 8(2): 115-117.
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.Horn, et al. Biopreservation and BioBanking. June 2010, 8(2): 115-117.
Privacy - an important consideration
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
The privacy equation?
risks for the general population
benefits for the ‘sick’ population
Changing landscape of biobanks
Single ConditionSingle Condition
Siloed collectionsSiloed collections
Individual governanceIndividual governance
Limited dataLimited data
Multi-condition; cross-diseaseMulti-condition; cross-disease
Models for shared infrastructureModels for shared infrastructure
Group governanceGroup governance
Robust data from multiple sourcesRobust data from multiple sources
Limited standardizationLimited standardization
Increased standardized protocols for samples/dataIncreased standardized protocols for samples/data
Limited role of subjectsLimited role of subjects
Dynamic involvement of consumersDynamic involvement of consumers
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
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
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
Collaborators
Genetic Alliance Sharon TerryLiz Horn
BioBankJoan ScottClaire DriscollMember Organizations
Gene LogicTom ThomsonMary BarcusMaya Neyman
Private AccessRobert SheltonMarc KirshbaumCassie Hoag
PXE InternationalPat TerryLionel BercovitchChris VockeTerry Mac Dermaid
www.geneticalliance.org
www.biobank.org
www.privateaccess.com
www.pxe.org
www.genelogic.com
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
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