our visiongeneticalliance.org/sites/default/files/webinararchive/150519gabiob… · lr, terry sf,...

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




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


Sample Accessioning and Management


Staff Experience

Adequate Staffing


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)


Sample Accessioning and Management


Staff Experience

Adequate Staffing


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