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Symposium on Biospecimen Stabilization and Management
Held at the Joseph B. Martin Conference Center @ Harvard Medical School, September 28, 2011.
- Presenters
- Dr James A. Robb - Consulting Pathologist (NCI/OBBR)
- Dr Gholson J. Lyon - Children's Hospital of Philadelphia (CHOP)
- Dr Patrick Sluss - Harvard Medical School & Massachusetts General Hospital
- Dr Lora Nordstrom - Translational Genomics Research Institute (TGen)
- Dr Rolf Muller - Biomatrica
- Dr Kristin Ardlie - MIT/Broad Institute
- Ms Theresa Mathieson - Susan G. Komen Tissue Bank
Meeting Agenda & Abstracts
8:00 – 8:15 Continental Breakfast/Registration
8:15 - 8:20 Pilot Project to Test Biomatrica's Room Temperature Storage Sponsored by Harvard University and MASCO - by John Healey, Director of Special Projects
8:20 - 8:30 Welcome by Judy Muller-Cohn, Ph. D., CEO, Biomatrica Inc.
8:30 - 8:50 Need for High Quality Specimens and the Cost and Complexity of Storage in Community Cancer Centers
James A. Robb, MD, FCAP, Governor, College of American Pathologists (CAP) & SAIC Fredericks Consulting Pathologist, NCI's Office of Biospecimen and Biorepositories Research (OBBR).
85% of US cancer patients are diagnosed and treated in community healthcare facilities. It is critical that the community pathology, surgical, nursing, and administrative stakeholders work together to assure that their patient’s biospecimens (tissue, blood, urine, body fluids, etc.) are consented, annotated, collected, transported, processed, tested, interpreted, and stored using the best evidence-based practices available to reduce variability in patient treatment and safety. Quality biospecimens with accurate testing, interpretation, and communication are fundamental to subsequent patient evaluation and treatment decisions. Genomically-informed, precision, personalized healthcare will be successfully implemented, if all the above steps in the life cycle of a quality biospecimen and appropriate patient treatment decisions are implemented in community healthcare facilities.
8:50 – 9:10 Ambient Management of Biospecimens in an East Asian Glioma Genome Wide Association Study (GWAS)
Lora Nordstrom, Ph.D., Manager, Clinical Biospecimen Coordination, Translational Genomics Research Institute (TGEN).
An international consortium was formed to collect biospecimens in East Asia from 4,000 glioma and 4,000 control participants to identify genetic variants associated with glioma risk. The study will collect biospecimens supportive of post-GWAS experiments to identify how these genetic variants affect tumor biology. A pilot study was initiated at four sites in three Asian countries to demonstrate performance of biospecimen collection, preservation, and shipment to the Translational Genomics Research Institute (TGen) or a collaborating Chinese laboratory. Results show that sample quality of all biospecimens collected at the various sites and shipped either by frozen storage or ambient-storage are similar. However, a clear difference is observed in costs between samples shipped frozen versus using dry storage technology. Over the next 4 years, we estimate that the use of ambient biospecimen storage and shipping technology will result in total savings of $124,000 compared to using cold freezing sample storage and shipping.
9:10–9:30 Using Next-Generation Sequencing to Discover the Genetic Basis of Idiopathic Disorders, and How to Return Results to Such Patients.
Gholson J. Lyon, MD, Ph.D., Research Scientist, Center for Applied Genomics, Children's Hospital of Philadelphia (CHOP)
As the cost of next-generation sequencing continues to decrease exponentially, it is becoming both affordable and relatively easy for laboratories outside of large-scale sequencing centers to perform exon capture and eventually whole genome sequencing in selected individuals. We describe here our efforts in both a simple X-linked, infantile lethal Mendelian disorder1, and in a complex neuropsychiatric disorder, namely attention deficit hyperactivity disorder (ADHD)2. In the first instance, we were able to use exon capture and massively parallel sequencing to identify the genetic basis of this previously unrecognized disease. This discovery was enabled by various software tools, including a recently developed disease-variant finding algorithm (VAAST)3. With ADHD, we identified many rare variants with exome sequencing that are shared in the three males, but proving causation for ADHD in this one small family has been difficult. We did readily identify the genetic basis of a case of coincidental and idiopathic hemolytic anemia (IHA) in one of the men in the family, and we performed functional and biochemical experiments to establish that these compound heterozygote variants in one gene were causative for the anemia. There is substantial debate in the medical genetics and ethics communities concerning whether research results can or should be returned to participants or not. Some people argue that all research results must be confirmed in a Clinical Laboratory Improvement Amendments (CLIA)-certified lab prior to giving any such results back to patients, whereas others argue that only “medically actionable” results need to go through such rigorous confirmation. Here, we present two real-world scenarios; first, to enable preimplantation diagnosis for Ogden Syndrome, we developed a CLIA-certified lab test at ARUP laboratories, before delivering any results to the family. Second, in the ADHD cases and the coincident case of IHA, there were not any medically actionable variants discovered, particularly as the one man with IHA had already undergone splenectomy as treatment. Therefore, we felt it was warranted to convey the anemia result to his hematologist for confirmation and further follow-up, along with advising the research subject to speak further about this with his hematologist. In both instances, we were able to provide information either directly or indirectly back to these individuals, giving them some “closure” on why they were affected with certain simple Mendelian diseases.
9:30–9:40 Break
9:40–10:00 The Vision of Ambient Managed Samples Today and Tomorrow
Rolf Muller, Ph.D., President & Chief Scientific Officer, Biomatrica, Inc., San Diego, CA.
Innovative technologies are being developed for stabilizing biological materials at room temperature that will aid the ease of sample collection for personalized medicine and molecular diagnostics. These technologies allow for storage of bio-specimens outside cold environments preserving sample integrity while greatly reducing costs and reliance during collection, shipment and storage. Such technologies will meet the future needs of increased collection and processing of biological samples (tissues, clones, blood, biopsies, proteins, enzymes, etc) in terms of scalability, reduced costs (operational and energy), and an eco-friendly solution (zero emissions).
10:00–10:20 The Potential Role of Ambient Temperature Specimen Preservation in the Customization of Healthcare: A Case Study
Patrick Sluss, Ph.D., Associate Director, Clinical Pathology Core Laboratories, Mass General Hospital & Associate Professor of Pathology, Harvard Medical School.
Customization of healthcare is a rapidly developing aspect of medical practice. Currently clinical pathology laboratories provide diagnostic services for stratified care as well as traditional diagnostic testing. Particularly within academic centers, expanding stratified care to fully customized diagnostics and treatment management involves developing new markers of disease and drug efficacy. Essential to this process is the availability of population-based, high quality biospecimens capable of supporting genomic, proteomic and metabolomic analytical procedures. The need for dramatically increased numbers of patient specimens is a challenge to existing infrastructure, including biorepositories and specimen workflows. Ambient temperature preservation offers numerous potentially enabling advantages over traditional frozen specimen processing and storage. An analysis of the potential role of ambient temperature preservation in specimen acquisition and preservation at a large academic hospital with an existing biorepository program will be presented. This case study illustrates some of the technical and financial issues that ambient temperature preservation may favorably impact and our approach to evaluating the technology.
10:20-10:40 Validation of the Use of Biomatrica Technologies for Ambient DNA Storage at the Komen Tissue Bank.
Theresa Mathieson, Biospecimen Manager, Susan G. Komen for the Cure Tissue Bank, IU Simon Cancer Center, IUPUI.
The Susan G. Komen for the Cure® Tissue Bank at the IU Simon Cancer Center collects normal, healthy breast tissue, DNA, serum and plasma from volunteer female donors without evidence of breast cancer. These specimens can then be used for a wide array of experiments, including serving as a “normal” control in breast cancer experiments. DNA is extracted from whole blood and stored using Biomatrica® DNAstable technologies until requested for an experiment. Because the DNA is stored long-term, it is necessary to perform quality control tests to be sure the integrity of the molecule is maintained during storage. For the purpose of performing quality control on stored DNA, frozen samples (-80C), were compared with those stored at ambient conditions. Sixty-six DNA samples dating back to 2005 were tested for quality control purposes. 10 of these were also compared with their frozen aliquot. Overall, the storage conditions currently used for the banked DNA samples appear to maintain the integrity of the DNA. Preliminary results on ambient versus frozen storage methods show no difference in DNA quality.
10:40-11:00 Testing the Effects of Anhydrobiosis and Ambient Storage on RNA Sequencing.
Kristin Ardlie, Ph.D., Director, Biological Samples Platform, BROAD Institute.
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