With the expanded mandate that “NLM should be the intellectual and programmatic epicenter for data science at NIH1”, the Data Science Special Interest Group (SIG) assumed a more significant role in connecting with other NIH data-science-oriented SIGs and with the global community (whether researches, clinicians, educators, patients, or the public). The group’s main goals are to disseminate new information, resources, and activities; to provide the community opportunities to discuss and facilitate collaboration; and to share data and findings toward a common goal of improving the quality of life for all.
Our premise is to communicate openly with our stakeholders. Specifically, we work to speak with and include the patients who donate their data and samples, the investigators who use the data for biomedical research projects, the clinicians who use their knowledge and findings to treat their patients, and the experts who develop, maintain, and make available the infrastructure and tools to enable these activities.
One part of that infrastructure is biorepositories, which are essential resources for individualized medicine. In fact, biospecimens are one of the major components of the All of Us Research Program and the foundation of precision medicine, including the discovery of new drugs and novel biomarkers and the development of individualized molecular diagnostics. Biospecimens enable us to study diseases, as well as healthy people, over long periods of time. Data from biospecimens combined with health information can help researchers discover individual differences that contribute to disease and response to treatments.
We can’t emphasize enough: biomedical research relies upon high quality biospecimens, the associated molecular data, and the link to the clinical data collected through patient registries. Those in the field need tools to facilitate these endeavors, including bioinformatics solutions ranging from creating accessions to tagging various categories of data to common data elements and standards.
Recognizing that need, the Data Science SIG recently held a webinar on “Global Perspectives on Biobanking and Access to Samples.” Six distinguished experts from around the world shared their specific activities regarding specimen collection, access to samples, and overcoming obstacles and challenges, including the unique challenges inherent in rare disease specimens.
The speakers included:
- Jonathan Pevsner, Professor, Dept. of Neurology, Kennedy Krieger Institute. Dept. of Psychiatry and Behavioral Sciences, Johns Hopkins Medicine (USA). Presentation: Biobanking User’s Perspective and an Overview
- David van Enckevort, Project Leader, Biobanking and Biomolecular Resources Research Infrastructure-European Research Infrastructure Consortium (Netherlands). Presentation: FAIR (Findable, Accessible, Interoperable and Reusable) Data and Sample Access
- Manuel Posada de la Paz, Director, Research Institute for Rare Diseases (Instituto de Investigación en Enfermedades Raras), a member of the EuroBioBank (Spain). Presentation: Rare Diseases Biological Samples: Small Collections and Research
- Kerry Wiles, Program Director, VUMC Tissue Repository, Cooperative Human Tissue Network, Western Coordinator (USA). Presentation: An Academic Prospective Procurement Repository: From Donor to Bench
- Jim Vaught, Editor-in-Chief, Biopreservation Journal, past President of the International Society for Biological and Environmental Repositories (ISBER), on the board of directors for ISBER and National Disease Research Interchange (USA). Presentation: NIH and ISBER Perspectives on Specimen Locators
- Daniel Catchpoole, Director of Kids Research Institute, The Children's Hospital at Westmead (Australia). Presentation: The Australian Experience, Issues and Solutions
The webinar drew 199 attendees, who asked numerous questions and discussed a range of topics, including privacy and informed consent, the use of common data elements and standard terminology, incentivizing samples and data sharing, access to rare sample, cataloging samples, linking patient’s clinical data to their donated sample, working with patient advocacy groups, global collaboration, as well as publication and proper credit. Other questions addressed organizational aspects of future sessions, such as hosting invited speakers on site, granting access to past presentations, and facilitating a public forum for continuous interaction and communication with the participants.
Feedback following the event was overwhelmingly positive, with attendees finding the information useful and important. This further drives our mission to keep the conversation going.
Because the topic of biospecimens involves many other aspects we were not able to cover, we are developing an interactive forum to follow up on each session, answer questions, ignite conversation, and exchange ideas and suggestions for future webinars.
But biospecimens is only one of many subjects the Data Science SIG will address. We welcome suggestions for future webinar topics and invite you to share your thoughts, provide feedback, or suggest topics and speakers below.
As soon as we are able, we will make the presentations available (with speaker’s permission) and announce our future activities.Register for the Data Science SIG discussion list to join other NIH scientists with an interest in data science and to keep up with the group’s activities and events.
About the Author:
Yaffa Rubinstein was trained as a molecular biologist and received her M.S. from the Weizmann Institute/Hebrew University in Israel and her Ph.D. from the University of Maryland, College Park. She completed her postdoctoral studies at the National Cancer Institute. Subsequently at the NCI, she was the program director for the Cooperative Human Tissue Network (CHTN). She developed the Global Patient Registry Data repository (GRDR) program while at the Office of Rare Diseases Research at the National Center for Advancing Translational Sciences (NCATS)/NIH, and served as its program director for about 8 years. She continues her international activities in the arena of patient registries, CDEs and biospecimens. As a member of the International Society for Biological and Environmental Repositories (ISBER), she serves as the co-chair for the International Specimen Locator and the Rare Diseases working groups. Additionally, she is a member of the PCORI rare disease advisory panel. Recently she retired from ORDR and joined the National Library of Medicine as a special volunteer, co-leading the Data Science Special Interest Group and assisting in areas of CDEs, standard terminologies, and infrastructures for clinical data collection.