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Registry and Biorepository Bulletin
Brought to you by Genetic Alliance Registry & BioBank
30 June 2011 Issue #16


Genetic Alliance 25th Annual Conference

Genetic Alliance’s Annual Conference, 25 Years of Innovation, was held June 23-26 in Washington, DC. Advocates and community leaders, health and industry professionals, policymakers, academicians, and families joined together to engage in cutting-edge discourse, brainstorming, workshops, and networking. For the first time, we held a specialized Registry and Biobank Track, focusing on issues of organization, trust, and governance. We will highlight presentations and key learnings from the conference in this and upcoming bulletins.

Fundamentals of Drug Development for Advocates

In this daylong session at the Genetic Alliance Conference, we discussed the fundamentals of drug development and how advocacy organizations can influence the process. Stephen Groft, Director of the Office of Rare Disease Research (ORDR), discussed the importance of partnerships in developing pathways and interventions, suggesting that the first step is a registry. Bernard Munos, founder of InnoThink Center for Research in Biomedical Innovation, continued by elaborating on how drug development for rare diseases has improved tremendously in the past year. Rare diseases have become a greater focus in big pharma and have influenced a major drug repurposing effort at the NIH. Currently, there are regulatory and legislative incentives to jumpstart rare disease research and development. While this is encouraging, Munos emphasized that 87% of rare diseases are not actively researched and there is much work to be done. In order for innovation to flourish, we need to tap the knowledge of patients and physicians, attract more scientists, stimulate new knowledge, and pursue empirical approaches that can deliver treatments even in the absence of complete knowledge. Christopher Austin, Director of the NIH Chemical Genomics Center (NCGC) and the Therapeutics for Rare and Neglected Diseases (TRND) program at the NIH, then presented on novel efforts to accelerate drug development for rare and neglected diseases and elaborated on current NIH initiatives. Advocates Pat Furlong, President and CEO of Parent Project Muscular Dystrophy, and Donna Appell, President of the Hermansky-Pudlak Syndrome Network, shared their personal experiences and urged advocates to go into clinical trials with their eyes wide open and to organize communities early, so they are ready for clinical trials. Both stressed that advocacy organizations have much expertise to contribute and are leading the way in drug development.

The Important Role of Biospecimen Science

Helen Moore, Ph.D., from the Office of Biorepositories and Biospecimen Research, presented on the important role of biospecimen science in biobanking. There are different processes in place for biospecimen collection across the U.S., leading to a wide variation in quality of specimens and data. Multiple pre-analytical factors, both pre-acquisition and post-acquisition, can affect the molecular integrity of the biospecimen. Pre-acquisition factors can include presence of antibiotics or other drugs, type and duration of anesthesia, and time of arterial clamp time. Examples of post-acquisition factors include time at room temperature, temperature of the room, type of and time in fixative, and aliquot size to name a few. Pre-analytical variation introduced during the process of collection, processing and storage of biospecimens can markedly skew the results of molecular analysis. Rigorous and sufficiently powered research studies are needed to understand the critical steps for standardization, and the caveats we accept when utilizing different standard operating procedures. This is an opportunity to improve the accuracy of research and clinical data, and it is an issue for all stakeholders, academics, government, industry, research participants, and patients.

Watch the video or read the brochure to learn about the importance of high-quality biospecimens.

Journey of a Sample

In a new series on the Broad Institute’s BroadMinded Blog, Haley Bridger follows the journey of a cancer sample as scientists attempt to analyze its genome. In her first post, Bridger starts at the very beginning of a sample’s life and details the initial steps taken once the sample is received. In her next post, Bridger watches as scientists start to confirm that the cancer samples are indeed what they are reported to be in order to prevent mislabeled samples from going undetected. The content of the sample is analyzed to identify the samples that have the best chance of success in sequencing. Future posts plan to explain what happens during genetic analysis and sequencing. Bridger includes short, descriptive videos and weaves in personal reactions to offer a transparent and informative account that simplifies and brings to life even the most complex scientific concepts.

Assurance Process Update

Office for Human Research Protections (OHRP) has posted a revised set of frequently asked questions and answers (FAQs) on the assurance process. These FAQs include information on recent changes in the Federal Wide Assurance (FWA) form and Terms of Assurance, which have been approved by the Office of Management and Budget (OMB). On June 21, OHRP sent out a listserv notification announcing the availability of the OMB-approved revised FWA form and Terms, and highlighting key changes.


Edited by Liz Horn, Catherine Dokurno, and Sharon Terry.

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