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IT: Infrastructure
2:00 Chairperson’s Remarks
Anil V. Parwani, M.D., Ph.D., Division Director, Pathology Informatics, Staff Pathologist, Shadyside Hospital, University of Pittsburgh Medical Center Biomarkers
2:05 Proposed Virtual BioRepository Platform for Distributed Research Networks
Alexander Sherman, Director, System, Institute for NeuroTherapeutic Investigational Trials, Massachusetts General Hospital
Research network of 90+ academic institutions has multiple member BioBanks. A Web-based platform was designed and built for managing distributed biological samples. This is a unique approach in managing multiple biobanks at multiple locations while knowing the inventory across the research network and being able to search for samples based on the data from heterogeneous data sources such as clinical trials, biomarker studies and patients records. This is the first virtual network to “cover” a major neurological disease, Amyotrophic Lateral Sclerosis (Lou Gehrig’s Disease), and may serve as a model for academic and industry collaboration in biomarkers discovery and validation.
2:35 Streamlining the Scientific Review
Elizabeth Wagner, Scientific Program Coordinator, Transfusion Medicine & Cellular Therapeutics, NIH NHLBI
The National Heart, Lung, and Blood Institute (NHLBI) is the custodian of multiple historical and contemporary biospecimen collections from NHLBI funded research and clinical studies. All biospecimen requests are reviewed for the significance and appropriateness of the proposed research, study design, the qualifications of the investigators to do the research, the availability of research funding, the availability of biospecimens, and the ethical and legal considerations. The BioLINCC IT infrastructure that was developed to streamline the scientific review of biospecimen requests will be presented.
3:05 Development and Applications of Informatics Tools to Enhance Biobanking and Translational Research
Anil V. Parwani, M.D., Ph.D., Division Director, Pathology Informatics, Staff Pathologist, Shadyside Hospital, University of Pittsburgh Medical Center Biomarkers
Successful biobanking requires not only the collection and timely delivery of high quality biospecimens for researchers but also simultaneous annotation and de identification of these biospecimens which can be easily accessible to the research community. The focus of this talk will be on the development and use of disease specific databases and new and emerging technologies such as digital imaging to enhance biobanking to support translational research.
3:35 Selected Poster Presentation: Engaging Diverse Campus Biobanks in the Selection of an Enterprise-Wide Biobanking Information System (BIMS)
Helena Ellis, Director, Duke Biobank, Duke Translational Research Institute, Duke University
3:50 Networking Refreshment Break in the Exhibit Hall with Poster Viewing
4:30 The Challenge of Having High Quality Clinical Follow-Up Information Linked to Biospecimens
Iman Osman, M.D. Associate Director, NYU Cancer Institute; Director, Interdisciplinary Melanoma Program; Associate Professor, New York University School of Medicine
Recently, there has been a major emphasis on recording clinical information at the time of specimen acquisition. However, linking biospecimens to clinical follow-up is only routine as part of intervention-based clinical trials. This is in part done to allow for standardization of procedures and large sample size for phase III clinical trials. This talk will focus on the challenge of obtaining extended clinical follow-up information that is linked to a prospective biospecimen database.
5:00 Keynote Presentation: Role of Common and Rare Genetic Variants in Health  and DiseaseHakon Hakonarson, M.D., Ph.D., Center for Applied Genomics, Children's Hospital of PhiladelphiaBoth common and rare genetic variants play a role in health and disease. GWAS has been extremely fruitful in identifying common variants that associate with various complex diseases and rare copy number variants (CNVs) have been shown to be disease causing for a small proportion of multiple complex diseases. However, we and others have shown that common GWAS variants have the ability to capture rare variants that are causative in a small proportion of patients. This presentation will include several examples of the latter (referred to as synthetic association), and will discuss the role of rare CNVs in health (protective role) and disease (causative role), in studies comparing CNVs between healthy children and old individuals.
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Workflows/Automation
2:00 Chairperson’s Remarks
K. Stephen Suh, Ph.D., Director, Genomics and Biomarkers Program, The John Theurer Cancer Center, Hackensack University Medical Center
2:05 Biobanking: The Past, Present and the Future
Stella Somiari, Ph.D., Senior Director, Windber Research Institute; Director, Windber Research Institute Tissue Bank
There are now well established and emerging institutional core biobanks and commercial biobanks that are changing the way biospecimens are acquired, stored and distributed. Unfortunately, it remains a challenge to obtain enough good quality, well annotated and certain types of biospecimens on demand, and within budget, an indication that demand exceeds supply or the current biobanking workflow process does not satisfy the needs of all researchers. To be well positioned to meet the anticipated increase in demand and future needs of researchers, biospecimen banks will have to re-examine the way biospecimens are collected, stored and distributed.
2:35 Real Time Temperature Monitoring and Alarm System to Improve Quality Management of Biobanks
Halla Hauksdottir, Biomedical Scientist, Safety and Quality Manager, Clinical Biobanks, Diagnostic Medicine, Landspitali, University Hospital
An important feature in good biobanking practices is to monitor and log conditions of sample storing devices. Continuous temperature monitoring of biobanking freezers has been implemented using Vista Data Vision (VDV) applications in the Division of Diagnostic Medicine at Landspitali University Hospital in Reykjavik. The automatic data logging into a database and the alarm service through automated e-mail and/or text to selected staff members is most important for quality management of our Biobank, and furthermore, the easy web access to all trend lines and data and the alarm handling is of great value for monitoring freezer quality. This talk will focus on the implementation of the monitoring network and the effects of this monitoring on the overall quality management in the biobank.
3:05 Biospecimen Quality Control for Today’s Genomics Laboratories
Belynda D. Hicks, Director, Quality Management, Genetics and Genomics, Advanced Technology Program, SAIC-Frederick, Inc., National Cancer Institute at Frederick
Current genomic technologies demand biospecimens that are well characterized and well qualified for downstream analysis. As the technologies supporting genotyping and sequencing progress, development of appropriate sample acceptance criteria becomes an iterative process. Some advances in technology may result in less restrictive criteria while other applications in single molecule and targeted sequencing techniques may demand more specific sample attributes. A robust and predictive quality control process that addresses sample, subject and project level characteristics is a critical component of a quality management system in today’s genomics laboratories.
3:35 Selected Poster Presentation: University of Colorado Skin Cancer Biorepository: Building a Better Cancer Research Biobank
Steven Robinson, Research Manager, Skin Cancer Biorepository, Division of Medical Oncology, University of Colorado Anschutz Medical Campus
3:50 Networking Refreshment Break in the Exhibit Hall with Poster Viewing
Biomarkers
4:30 Early Detection Biomarkers for Ovarian Cancer
K. Stephen Suh, Ph.D., Director, Genomics and Biomarkers Program, The John Theurer Cancer Center, Hackensack University Medical Center
The mortality from ovarian cancer in the United States is greater than all gynecologic cancers combined due to late detection and complex nature of the disease. Current situation necessitates urgent need of robust biomarkers with high sensitivity and specificity for early detection of ovarian cancer for the purpose of routine screening. With combination of bioinformatics-guided approach, biobank samples and sequential screening against a library ovarian cancer cell lines and cancer patient samples, we have identified early detection biomarkers for stage I/II of ovarian cancer at the level of tissue and peripheral blood.
5:00 Keynote Presentation: Role of Common and Rare Genetic Variants in Health and DiseaseHakon Hakonarson, M.D., Ph.D., Center for Applied Genomics, Children's Hospital of PhiladelphiaBoth common and rare genetic variants play a role in health and disease. GWAS has been extremely fruitful in identifying common variants that associate with various complex diseases and rare copy number variants (CNVs) have been shown to be disease causing for a small proportion of multiple complex diseases. However, we and others have shown that common GWAS variants have the ability to capture rare variants that are causative in a small proportion of patients. This presentation will include several examples of the latter (referred to as synthetic association), and will discuss the role of rare CNVs in health (protective role) and disease (causative role), in studies comparing CNVs between healthy children and old individuals.
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