Transformation of Big Data into Clinically Actionable Knowledge: Supporting the Personalized Medicine revolution


Elisabeth Worthey, PhD

Assistant Professor, Pediatrics,
Director of Genomic Informatics, Human and Molecular Genetics Center,
Medical College of Wisconsin
8701 Watertown Plank Road
Milwaukee, WI 53226
phone: 414-955-4887
fax: 414-456-6516

11:30 – 12:30
Saturday, 29 August 2015
Silver Room



Despite significant advances in our understanding of the basis of disease, the cause underpinning the majority of human disorders remains fully or partially unknown. Identification of molecular changes provides an opportunity to understand their role in health and disease, and in a clinical setting to apply that understanding to prevention, diagnosis, and treatment. The advent of genome-wide sequencing has altered how molecular changes are identified and has transformed Molecular Diagnostics in Genetics and Oncology. It is now exerting change in other clinical and preclinical areas including clinical trial cohort selection and analysis, biomarkers development, and personalised therapeutics. Such advances require development of a Data Science model that emphasizes extraction, integration, analysis, and presentation of massive numbers of data points; thousands of millions of molecular changes, EHR extracted clinical information, clinical trial data, genotype to phenotype mappings, publications, and protein interaction and pathways data. The solution is a systems approach powered by Big Data that requires application of appropriate hardware, programming techniques, and analytical methodologies. The goal is identification of the disease etiology, progression, and/or outcome in an individual patient with subsequent generation of information for prevention, diagnosis, and/or treatment. I will illustrate with examples where this approach was applied resulting in novel insights and better clinical decision making.


Affiliation: Assistant Professor; Department of Pediatrics and Director, Genomic Medicine Program, Human and Molecular Genetics Center, Medical College of Wisconsin Adjunct Assistant Professor; Departments of Computer Science and Health Informatics and Administration, UW Milwaukee Co-Founder and VP Informatics, Genomic Healthcare Innovations, Milwaukee, WI

Dr. Worthey received her PhD in Genetics from the University of London in 2003 and completed her post-doctoral fellowship at the University of Washington, working on both Eukaryotic Genomics and other high throughput “Omics” projects. In 2008, after working as a Project Manager for Merck & Co., Dr. Worthey joined the Medical College of Wisconsin (MCW) and became an Assistant Professor of Pediatric Genomics in 2010. Dr. Worthey became Director of Genomic Informatics for the Human and Molecular Genetics Center at MCW in 2012. She also held an Adjunct Assistant Professorship in the Computer Science Department at the University of Wisconsin – Milwaukee. She recently moved to the Hudson Alpha Institute for Biotechnology where she is a Faculty Investigator and Director of Bioinformatics core and a member of the Hudson Alpha – UAB Genomic medicine program. Dr. Worthey is an expert in molecular genetics as well as in comparative, structural, and functional genomics, population and evolutionary genetics, biostatistics, network and pathway analysis, quantitative genetics, and bioinformatics. Her main focus is on the application of genomics approaches for Molecular Diagnostics and to aid in understanding mechanisms underlying human disease. She was first author on arguably the first case that used a Genomic Medicine approach to alter the medical care of a patient. As part of this work her group both develops and implements tools and algorithms to support clinical and translational use of Genomic data in both rare and complex disease. She has provided expertise on this topic to a number of national organisations in the US including the CDC, CAP, TATRC, and the NIH and has been invited to share her work at numerous national and international meetings.