Tutorials are included in the cost of registration. Please indicate which tutorial you plan to attend in the Tutorials/Special Events section of your event registration.
Monday, April 7, 8:30 a.m. – 12:00 p.m.
T01: Leveraging Public Consortia for Translational Research: An Introduction to ENCODE, Roadmap Epigenomics, and 1000 Genomes Data
Faculty: Raymond Auerbach, Stanford University School of Medicine
Large-scale consortia such as the Encyclopedia of Coding Elements (ENCODE), 1000 Genomes, the Roadmap Epigenomics, and Gencode have collectively spent hundreds of millions of dollars and generated a wealth of data relating to functional genomics, sequence variation, gene expression and human genome annotation. To date the various consortia have applied these data to explore the intricacies of transcription and how genomics, transcriptomics, and epigenetics work in concert, even using these data to improve the human genome annotation and to identify non-coding elements that may also play a role in regulation; however, the community has only scratched the surface of how these data can be used in a translational context and bridging the gap between basic research and translational medicine will lead to better understanding of diseases and possible cures. Because the depth and breadth of these consortia data sets are so vast and span multiple cell lines, cellular treatments, and assays, external researchers tend to quickly become overwhelmed by what data are available and how to interpret it for use in their own analyses.
This tutorial will attempt to simplify the consortium data sets by presenting consortia data sets in the following contexts: DNA binding site analysis, chromatin analysis, DNA methylation, DNA-DNA interactions, transcriptomics, and sequence variation. Attendees should expect to learn about the many different assays used across these consortia and what they measure. The data processing choice made by each consortium and how these choices affect downstream analyses will also be discussed. Finally, the tutorial will end with a discussion of tools and methods to access/view the data, case studies showing how these data have been used in integrative studies to date, and a brainstorming session about how these resources can best be applied in a translational context.
T02: CDISC Standards in Clinical Research Informatics
Faculty: Vojtech Huser, MD, PhD, NIH Clinical Center; Peter Schaefer, Business Analysis Software & Services, LLC
This tutorial will provide an introduction to standards defined by the Clinical Data Interchange Standards Consortium (CDISC) to everyone who needs to understand the impact of CDISC standards on clinical research business processes and tools. Part 1 will provide introduction to CDISC as a standard developing organization (SDO), its history and the role of CDISC standards in regulatory approval submission. It will also highlight how CDISC is relevant to clinical research informaticians working at academic medical centers or collaborating with pharmaceutical industry. Part 2 will review individual CDISC standards, such as Operational Data Model (ODM), Study Data Tabulation Model (SDTM), Case Report Tabulation Data Definition Specification (define.xml) and others. Part 2 will also cover cross-standard issues and CDISC controlled terminology. Part 3 will provide practical exposure to XML and examples of clinical trial data represented in CDISC standards (ODM, Study Design Model (SDM-XML), SDTM and define.xml) and overview of free and commercial software products for manipulating data represented in XML-based CDISC standards. Finally, part 4 will focus on future trends in representation of clinical research data, the future of existing CDISC standards and describe emerging new CDISC initiatives and planned future standards.
The tutorial targets study data managers, clinical research informaticians, and clinical researchers that need to get an overview of CDSIC standards and understand the impact on their work.
T03: Enhancing Participant Recruitment to Clinical Trials: Informatics Strategies and Future Directions Faculty: Ashish Atreja, MD, MPH, Mount Sinai School of Medicine; Peter Embi, MD, MS, The Ohio State University; Paul Harris, PhD, Vanderbilt University; Chunhua Weng, PhD, Columbia University Clinical trials are critical to the advancement of medicine and form a crucial link in the translation of basic biological research into routine clinical practice. Finding eligible participants for trials is one of the major bottlenecks in the conduct of clinical research. Despite the great promise of existing health information systems, recruitment rates remain low and are frequently the cause for delays in the completion of trials. The need is great for fundamental, accessible, navigable, and comprehensible solutions to the challenge of participant recruitment. Overcoming these challenges is a fundamentally information-intensive endeavor, and informatics solutions to the problem of inadequate recruitment are beginning to take hold. Through a series of speaker presentations, panel discussion, and breakout sessions, this tutorial will bring together thought leaders to address the challenge of clinical trial participant recruitment through various informatics strategies: (1) Registries, (2) Electronic Health Records, (3) Patient-centric platforms and (4) Social-media based solutions. The panel will discuss the evidence for current strategies and lay out a framework for the future through discussion and break-out groups. Participants will learn various provider-centric and patient-centric approaches to enhance clinical trial recruitment within their research information ecosystems and how to objectively evaluate the effectiveness of these approaches. Through hands-on exercises and use-case scenarios, participants will understand how to combine different strategies to formalize a solution that bests fit within their institutional needs and environment.