Researchers: electronic health record data valuable in genetics studies

Electronic health records can be a valuable source of relevant clinical data for genomic studies, according to researchers from a consortium of US healthcare organizations.

The goal of the research, according to the report's 15 authors, was to determine whether data from EHRs could do a good enough job in identifying the phenotypes -- outward manifestations -- of certain diseases that it could then be used in genomic studies that look for links between health conditions and genetic markers. The researchers analyzed EMR data from five care sites -- Group Health, Seattle; the Marshfield (Wis.) Clinic; the Mayo Clinic, Rochester, Minn.; Northwestern University, Chicago; and Vanderbilt University, Nashville. The phenotypes to be identified were five conditions or diseases: dementia, cataracts, peripheral arterial disease, type 2 diabetes and cardiac conduction defects. Three of the sites used home-grown EHR systems; two used commercial off-the-shelf systems. The EHR systems captured patient records in both structured data and free-text forms.