These findings are published online in the American Journal of Human Genetics.
“Genome-wide association studies require large cohorts of patients with the same disease or condition, which can present a real challenge for researchers, especially for patients with less common diseases or outcomes.” said study author Robert Plenge, MD, PhD, of the Division of Rheumatology, Immunology and Allergy at BWH. “However, with the growing use of EHRs, clinical data for these large groups is becoming available in increasing abundance. We show that we can use EHR data for discovery genetics research in a way that is robust, efficient and highly accurate.”
In this study, researchers used software developed by the NIH-funded National Center for Biomedical Computing, Informatics for Integrating Biology and the Bedside (i2b2). They used i2b2 to link anonymous and de-identified biological specimens from a biobank along with corresponding de-identified EHRs to investigate previously established genetic risk factors for an autoimmune disease, rheumatoid arthritis (RA). By replicating similar findings as previous genome-wide associations studies, the researchers demonstrated the proof of concept for linking clinical data from EHRs to biological specimens to do discovery genetics research.
“This method for genetic research has even further potential in investigating subsets of diseases – for example, those patients who respond to one medication or those patients who suffer a complication from their disease,” said Dr. Plenge. He explained that current approaches of developing large patient cohorts with detailed clinical data don’t match the capacity to perform large-scale genomic research.
Study authors hope this study will prompt researchers to use clinical data derived from EHRs for discovery genomic research, and encourage institutions to establish systems to link EHRs with biological specimens in a way that maintains patient confidentiality.
The study was made possible by the collaboration of experts across disciplines and institutions, which included Massachusetts General Hospital, Childrens Hospital Boston, Massachusetts Institute of Technology, Broad Institute, Harvard School of Public Health, and Harvard Medical School. The study was funded in-part by the National Library of Medicine.