Our Vision We revolutionize access to
information and resources to enable translation of research into services.
Our Product We provide biorepository and registry solutions for advocacy organizations to
stimulate research
Our Process Coop model allowing an extensible,
interoperative, cost sharing model
Founded: October 14, 2003
BioBank Advisory Committee
Sharon F. Terry, President & CEO, Genetic Alliance and PXE International Liz Horn, PhD, MBI, Director, Genetic Alliance BioBank and International Psoriasis
Council Claire Driscoll, MS, National Human Genome Research Institute, NIH
Owen Johnson, CEO, Inflammatory Breast Cancer Research Foundation Joan Scott, MS, Genetics and Public Policy Center
Patrick F. Terry, PXE International, Genomic Health and Technic Solutions
Landscape Analysis and Needs Assessment!
1994!2000!2006!2009!
GABB assessment tool for registry platforms
Registry Component Included in System Add on to System Comments
Clinical Site Related Infrastructure
Patient Outreach / Awareness Program
Patient Donation Hotline
Ethics Committee
IRB / Consent Form Templates or assistance
IRB -Informed Consent Network
IRB Management & Approval
Dynamic Consent
Dynamic Reconsent
Network Standard Nomenclature (i.e. SNOMED, caBIG) Medical
Records
Clinical Site Training
Material Transfer Agreements (MTA)
Site Selection, Management
Site Approval, Activation
Site Coordinator
Site Monitoring
Sample Coding / BarCoding
Collection Kit Sourcing / Preparation
Collection kit distribution for blood, tissues, DNA, RNA
Sample Collection Protocols (SOPs)
Sample Collection Capabilities
Minor Sample Processing
Sample Validation / Quality Assurance
Sample Transport / Storage Devices (i.e. Dewars)
Transport / Shipping protocols
Sample Receipt
Shipping Logs
Inventory Management
Appropriate Sample Storage
Records Management
Validation of Information (QC Checks)
Quality Assurance / Quality Control
Audit / Experience / Savvy
Staff Experience
Adequate Staffing
Management Track Record
Information Technology Infrastructure
Power Backup
Alternate Site Storage Data
Sample Tracking
Inventory Management
Sample History-Chain of Custody
Linkage to Patient Records
Linkage to Radiological Data
Linkage to Sample Processing (Cold Chain)
Research Data Repository
Internet Access / Query
Sample Receipt / Distribution
Inventory Searchable
Barcoding
Quality Procedures
Internal Quality Program
Validation of Information (QC Checks)
Web Based Tracking Systems (used to verify specimen arrival,
processing, storage, and distribution)
Web Based Tracking Systems (used to follow sharing and
distribution of specimens / data / resources)
Web Hosting of all Sample and Clinical Data
Direct VPN Access to Data for Customers
Web Interface for Direct Data Entry by Clinical Sites
Web Reporting Functions
Data extraction for EMR
Data extraction PMR
Registry Data to Populate EMR/PHR
Compliant with 21 CFR Part 11
Compliant with 45 CFR 46
Compliant with 42 CFR part 52
Quality Assurance / Quality Control
Audit / Experience / Savvy
Management Track Record
Staff Experience
Adequate Staffing
Sample Processing Infrastructure
Standard Operating Procedures (SOPs)
Barrier rooms for Receiving / Unpackaging
GLP Certified
General Manipulation
Sample Thaw/Freezing Capabilities
Sample Coding / BarCoding
Sample Aliquoting (Liquid)
Sample Aliquoting (Frozen / Solid)
Cold tables for Frozen Tissue Aliquoting
Sample Aliquoting (FFPE)
Tissue Freezing Protocols (Slide Based)
Tissue Freezing Protocols (Snap Freezing)
General Slide Specimen Grossing Lab
FFPE Ability
In house Board Certified Pathologist Review
Ability to Process Non-human Tissue (Safeguards)
Blood Fractionation
Tracking / Record Management
Receiving Protocols
Transport, Shipping protocols
Shipping Manifest
Shipping Notification
Shipping Verification
Electronic Notification
Confirmation of Receipt
Shipping Logs
Shipping Verification
Collection Kit Distribution for Blood, Tissues, DNA, RNA
Collection & Shipping Protocols
Quality Assurance / Quality Control
Sample Accessioning and Management
Audit / Experience / Savvy
Staff Experience
Adequate Staffing
Management Track Record
Sample Analysis
Standard Operating Procedures (SOPs)
CLIA Certified
Cellular Analysis
IHC Capabilities
Microtome
Cyrostat
Slide Stainers
Slide Prep
TMA Preparation
Laser capture micro-dissection
In House Board Certified Pathologist Review
Digitize Microscopic Images
Cell Culture Capabilities
Cell Line Construction
Mycoplasma Testing (in-house)
Flow Cytometry
Molecular Biology / Genomic Analysis
Nucleic Acid (NA) Extraction (DNA/RNA)
DNA/RNA Quality analysis (i.e. size analysis)
DNA Amplification
DNA Sequencing
cDNA Synthesis
Gene Expression Analysis
SNP Arrays
DNA Fingerprinting (genotyping)
Proteomic Analysis / Protein Chemistry
Cell / Tissue Lysis
Electrophoretic Analysis
Western Blot Capability
HPLC / MS Capability
MS/MS Capability
Crude Fractionation
Glycomic Analysis
Diagnostic Test Development (RUO)
Quality Assurance / Quality Control
Sample Accessioning and Management
Audit / Experience / Savvy
Staff Experience
Adequate Staffing
Management Track Record
Disease Specific Organization!Data and Sample Management!
Informed Consent Robust Clinical Information
Sample Collection & Tracking Data and Sample Query
Data Management Electronic & Paper Records
Security & Access Control
Patient Enrollment!
Disease !Sample and Clinical!
Banking!
Biological Samples
Clinical Information
Need a Registry
Foundation (NRF)
Web based!
Boot camps Manuals
Workbooks Wikis
Webinars
Genetic Alliance IRB!
§ The Advisory Board, representing the organizational members, configures the best possible infrastructure, continually updating solutions as science and technology improve
§ Members bring passion, skills and resources to the collective
§ Members leverage collective resources, and as membership increases, more services are possible
§ Members enable cross-disease research and maintain control of their collection
GA BioBank - a Cooperative Research Consortium
GA BioBank Members Receive § Training/mentoring by experts in registries and
biobanking § Templates for all necessary documents and protocols
to develop a BioBank § IRB review of all documents & protocols § Clinical data collection system with customizable,
web-based interface for donor data entry § Biological sample collection, processing, archiving,
and distribution systems § Web-applications for data and sample management § Availability of multiple other genomic services
Mix and Match Modules
§ Biorepository– Precision Sciences § Cell lines – Rutgers § Phlebotomy services – ExamOne § Other services as needed
Becoming a Member of the GA BioBank
§ Potential members complete an application to membership designed to ensure organizational health and support when entering this co-op model
§ The application is reviewed and approved by the BioBank advisory board
Membership Application Requirements
§ Completion of the application § Organizational documentation
– Documentation of 501 (c) (3) status, most recent 990, most recent Independent Auditor’s Report, copy of your D&O insurance binder, voided check
§ Board rosters – Board of directors roster and professional advisory
board roster § Letters of support
– 2 letters of commitment and 2 letters of recommendation
Application Approval
§ Once the application is approved, the member organization is part of the Genetic Alliance BioBank
§ Each organization obtains GABB IRB approval prior to collecting samples
IRB Approval § Member organizations use customizable
template documents for all regulatory approvals from the time of consent through sending samples to researchers
§ Documents include: IRB protocol, consent form, child assent form, sample collection protocols, material transfer agreement (MTA), sample application form for researchers, and others
§ Completed documents are reviewed and approved by the Genetic Alliance BioBank IRB
Beginning Sample Collection
§ Once the member organization has IRB approval, they begin sample collection
§ Each new organization works with the Genetic Alliance BioBank to implement the procedures for the clinical questionnaire and biological sample collection
RESULTS Uitto J, Boyd C, Lebwohl M, Rosenbloom J, and Terry S: Report on the International Centennial Meeting
on Pseudoxanthoma Elasticum. Journal of Investigative Dermatology. 110:840-842. May, 1998. PMID: 9579557!
O. Le Saux, Z. Urban, H. H. H. Goring, K. Csiszar, F. M. Pope, A. Richard, I. Pasquali-Ronchetti, S. Terry, L. G. Bercovitch, M. G. Lebwohl, M. H. Breuning, P. Van Der Berg, L. Kornet, N. Doggett, J. Ott, P. T. V., M. Paulus, A. A. B. Bergen and C. D. Boyd: Pseudoxanthoma Elasticum Maps To An 820 Kb Region Of The P13.1 Region Of Chromosome 16. Genomics 62, p.1 –10, 1999. PMID: 10585762!
Le Saux O, Urban Z, Tschuch C, Csiszar K, Bacchelli B, Quaglino D, Pasquali-Ronchetti I, Pope FM, Richards A, Terry S, Bercovitch L, de Paepe A, Boyd CD. Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat Genet. 2000 Jun;25(2):223-7. PMID: 10835642!
Bergen AA, Plomb AS, Schuurman EJ, Terry SF, Breuning M, Dauwerse H, Swart J, Kool M, van Soest, S, Baas F, ten Brink JB, de Jong PT. Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat Genet. 2000 Jun; 25(2): 228-31. PMID: 10835643!
Terry SF, Boyd C. Researching the Biology of PXE: Partnering in the Process. American Journal of Medical Genetics, Volume 106, Issue 3, 2001. pp. 177-184. PMID: 11778977!
Gheduzzi D, Taparelli F, Quaglino D Jr, Di Rico C, Bercovitch L, Terry SF, Singer DB, Pasquali-Ronchetti I. The placenta in pseudoxanthoma elasticum: clinical, structural and immunochemical study. Placenta. 2001 Jul;22(6):580-90. PMID: 11440547!
Terry P, Terry SF. Consumer Perspective on Informed Consent and third-party issues. J Contin Educ Health Prof. 2001 Fall;21(4):256-64. PMID: 11803770
Le Saux O, Beck K, Sachsinger C, Silvestri C, Treiber C, Goring HH, Johnson EW, De Paepe A, Pope FM, Pasquali-Ronchetti I, Bercovitch L, Terry SF, Boyd CD. A spectrum of abcc6 mutations is responsible for pseudoxanthoma elasticum. Am J Hum Genet. 2001 Oct;69(4):749-64. PMID: 11536079
Le Saux O, Beck K, Sachsinger C, Treiber C, Goring HH, Curry K, Johnson EW, Bercovitch L, Marais AS, Terry SF, Viljoen DL, Boyd CD. Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa. Hum Genet. 2002 Oct;111(4-5):331-8. PMID: 12384774
Bercovitch L, Schepps B, Koelliker S, Magro C, Terry SF, Lebwohl M. Mammographic findings in pseudoxanthoma elasticum. J Am Acad Dermatol. 2003 Mar;48(3):359-66. PMID: 12637915
Lin AE, Terry SF, Lerner B, Anderson R, Irons M. Participation by clinical geneticists in genetic advocacy groups. Am J Med Genet. 2003 May 15;119A(1):89-92. PMID: 12707968
Terry SF. Learning genetics. Health Aff (Millwood). 2003 Sep-Oct;22(5):166-71. PMID: 14515892 Bercovitch L, Robinson-Bostom L, Terry S, Pasquali-Ronchetti I, Harrist T. Re: yellowish papules on flexural areas in a
child. Pediatr Dermatol. 2003 Nov-Dec;20(6):543-5; author reply 545. PMID: 14651582 Gheduzzi D, Sammarco R, Quaglino D, Bercovitch L, Terry S, Taylor W, Ronchetti IP. Excutaneous ultrastructural
alternations in pseudoxanthoma elasticum. Ultrastruct Pathol. 2003 Nov-Dec;27(6):375-84. Beskow LM, Botkin JR, Daly M, Juengst ET, Lehmann LS, Merz JF, Pentz R, Press NA, Ross LF, Sugarman J, Susswein
LR, Terry SF, Austin MA, Burke W. Ethical issues in identifying and recruiting participants for familial genetic research. Am J Med Genet. 2004 Sep 28. PMID: 15455364
Bercovitch L, LeRoux T, Terry S, Weinstock MA. Pregnancy and obstetrical outcomes in pseudoxanthoma elasticum. Br J Dermatol. 2004 Nov;151(5):1011-8. PMID: 15541079
Bercovitch RS, Januario JA, Terry SF, Boekelheide K, Podis AD, Dupuy DE, Bercovitch LG Testicular microlithiasis in association with pseudoxanthoma elasticum. Radiology. 2005 Nov; 237(2):550-4. PMID: 16244264
Terry SF, Terry PF. A consumer perspective on forensic DNA banking. J Law Med Ethics. 2006 Summer;34(2):408-14. PMID: 16789963
Vanakker OM, Martin L, Gheduzzi D, Leroy BP, Loeys BL, Guerci VI, Matthys D, Terry SF, Coucke PJ, Pasquali-Ronchetti I, De Paepe A. Pseudoxanthoma Elasticum-Like Phenotype with Cutis Laxa and Multiple Coagulation Factor Deficiency Represents a Separate Genetic Entity. J Invest Dermatol. 2006 Nov 16. PMID: 17110937
Terry SF, Terry PF, Rauen K, Uitto J, Bercovitch L. Advocacy Organizations as Research Organizations: the PXE International example. Nature Reviews Genetics. 2007 Feb; Vol. 8, No. 2. PMID: 17230202
Shi Y, Terry SF, Terry PF, Bercovitch LG, Gerard GF. Development of a rapid, reliable genetic test for pseudoxanthoma elasticum. J Mol Diagn. 2007 Feb;9(1):105-12. PMID: 17251343
Pfendner EG, Vanakker O, Terry SF, Vourthis S, McAndrew PE, McClain MR, Fratta S, Marais AS, Hariri S, Coucke PJ, Ramsay M, Viljoen D, Terry PF, De Paepe A, Uitto J, Bercovitch LG. Mutation Detection in the ABCC6 Gene and Genotype-Phenotype Analysis in a Large International Case Series Affected by Pseudoxanthoma Elasticum. J Med Genet. 2007 Jul 6. PMID: 17617515
Vanakker OM, Leroy BP, Coucke P, Bercovitch LG, Uitto J, Viljoen D, Terry SF, Van Acker P, Matthys D, Loeys B, De Paepe A. Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart. Hum Mutat. 2008 Jan;29(1):205. PMID: 18157818
Wolf SM, Lawrenz FP, Nelson CA, Kahn JP, Cho MK, Clayton EW, Fletcher JG, Georgieff MK, Hammerschmidt D, Hudson K, Illes J, Kapur V, Keane MA, Koenig BA, Leroy BS, McFarland EG, Paradise J, Parker LS, Terry SF, Van Ness B, Wilfond BS. Managing incidental findings in human subjects research: analysis and recommendations. J Law Med Ethics. 2008 Summer;36(2):219-48, 211. PMID: 18547191
Terry, SF. Genetic testing. Genet Test. 2008 Jun;12(2):175-6. PMID: 18554161 Ramsay M, Greenberg T, Lombard Z, Labrum R, Lubbe S, Aron S, Marais AS, Terry S, Bercovitch L, Viljoen D. Spectrum of
genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals. J Dermatol Sci. 2009 Mar 30.
Terry, SF. What do leaders of disease-specific advocacy organizations know about pharmacogenomics and biomarkers, anyway? Future Medicine. 2009;6(2): 171-181.
Zonno KD, Terry SF. Registry of genetic tests: a critical stepping stone to improving the genetic testing system. Genet Test Mol Biomarkers. 2009 Apr;13(2):153-4.
COSTS
§ Set up fee: $500 § IRB review: $500 (or you can use
another IRB) § Monthly fee of $250 paid at the
beginning of the month. § Services based on activity and storage
fees based on volume.
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