Scientific research published in the current issue of the Journal of the American Medical Informatics Association (JAMIA) reports on a study of genetic variants that influence human susceptibility to peripheral arterial disease (PAD), made possible by leveraging electronic medical records (EMRs). A team of authors from the Mayo Clinic Divisions of Cardiovascular Diseases and Biomedical Informatics and Statistics conducted the study and concluded that EMR-based data, used across institutions in a structured way, "offer great potential for diverse research studies, including those related to understanding the genetic bases of common diseases."
The authors, Iftikhar Kullo, MD; Jin Fan, MD; Jyotishman Pathak, PhD; Guergana Savova, PhD; Zeenat Ali, MD; and Christopher G. Chute, MD, DrPH, demonstrated the feasibility of leveraging EHRs to launch a genome-wide association study of PAD, which affects approximately eight million Americans 40 years old and older, and which includes 20 percent of the elderly (70+ years old) in the United States. According to the authors, PAD is associated with "significant mortality and morbidity, underscoring the necessity of a rigorous investigation."
The physicians used EHRs to confirm cases of PAD, and to identify phenocopies, i.e. mimics of atherosclerotic PAD. With patient consent, and the approval of Mayo's Institutional Review Board, the research team accessed electronic health records in a federated warehouse of patient data that Mayo Clinic has used since 1997- a database of more than eight million patients. Using the Mayo Enterprise Data Trust (EDT), the researchers extracted relevant clinical variables on study participants that could confound the association of genetic susceptibility variants with PAD.