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

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