Discovery research embedded within the health care system

How will the genomics research community obtain detailed clinical data and biospecimens on extremely large patient cohorts?  While there are several different strategies, we have pioneered an innovative strategy embedded within the health care system that repurposes clinical data gathered as part of routine patient care.  Our team works closely with the NIH-funded project entitled “informatics for integrating biology and the bedside”, or i2b2.  We use cutting-edge informatics techniques to mine clinical data from the electronic medical records (EMR).  We focus on immune-mediated diseases such as rheumatoid arthritis (RA), inflammatory bowel disease (IBD), and multiple sclerosis (MS), as well as other clinical outcomes where inflammation is thought to contribute to pathogenesis (e.g., cardiovascular disease).  The goal is to use EMR data to define sub-categories of disease such as response to therapy.   We also have a project to collected clinical data directly from patients via the web and smart phone “apps” as part of the Arthritis Internet Registry (AIR).

We have a number of other projects in various stages of development, including: EMR algorithms to define disease states (RA, MS, IBD) and clinical outcomes within these diseases (e.g., response to therapy, cardiovascular disease, infections); portability of EMR algorithms across institutions (Partners HealthCare, Vanderbilt, Northwestern); and unbiased phenome-wide association studies (PheWAS) to search for unexpected genotype-phenotype correlations.