Intractable Rare Dis Res. 2021;10(1):17-22. (DOI: 10.5582/irdr.2020.03123)
Different approaches to improve cohort identification using electronic health records: X-linked hypophosphatemia as an example
Electronic Health Records (EHRs) represent a source of high value data which is often underutilized because exploiting the information contained therein requires specialized techniques unavailable to the end user i.e. the physician or the investigator. Here I describe four simple and practical avenues that will allow the standard EHR end user to identify patient cohorts: the use of diagnostic codes from different international catalogues; a search in reports from complementary tests (e.g. radiographs or lab tests) for any result of interest; a free text search; or a drug prescription search in the patient's electronic prescription record. This medical approach is acquiring great importance in the field of rare diseases, and here I demonstrate its application with X-linked hypophosphatemia. The use of these four EHR questioning approaches makes finding a cohort of patients of any condition or disease feasible and manageable, and once each case record is checked, a well-defined cohort can be assembled.