Session Abstract – PMWC 2020 Silicon Valley

There are many challenges to overcome to make health and genome sequence data part of routine health care: regulatory and reimbursement aspects, infrastructure requirements, or the challenges of ordering the tests and making the results available to the physician. This session will focus on some of these issues.

 Session Chair Profile

MS, Ph.D., Director & Chief Research Informatics Officer, Geisinger Health System

Dr. Ritchie is a statistical and computational geneticist with a focus on understanding genetic architecture of complex human disease. She has expertise in developing novel bioinformatics tools for complex analysis of big data in genetics, genomics, and clinical databases, in particular in the area of Pharmacogenomics. Dr. Ritchie has received several awards and honors including selection as a Genome Technology Rising Young Investigator in 2006, an Alfred P. Sloan Research Fellow in 2010, and a KAVLI Frontiers of Science fellow by the National Academy of Science from 2011-2014. Dr. Ritchie has extensive experience in all aspects of genetic epidemiology and translational bioinformatics as it relates to human genomics. She also has extensive expertise in dealing with big data and complex analysis including GWAS, next-generation sequencing, CNVs, data integration of meta-dimensional omics data, Phenome-wide Association Studies (PheWAS), and development of data visualization approaches.

 Speaker Profile

Ph.D., Associate Professor, Case Western Reserve University

Dr. Crawford’s laboratory accesses large-scale epidemiologic and clinical data in electronic health records to characterize common and rare genetic variants associated with human diseases. A particular interest is in identifying pleiotropy (when a single gene influences two or more seemingly unrelated physical traits) and environmental modifiers of genetic associations, including pharmacogenomics (the study of how genes affect a person’s response to drugs). She has published more than 160 peer-reviewed manuscripts. Among her accomplishments was serving as principal investigator of the NIH’s Electronic Medical Records & Genomics (eMERGE) Network Coordinating Center and co-chair of the eMERGE Network’s Genomics Working Group. She also played a leadership role in the NIH’s Population Architecture using Genomics and Epidemiology (PAGE) study. She is currently serving a three-year term as an elected member of the American Society of Human Genetics Board of Directors.