title: Patient Electronic Health Records as a Means to Approach Genetic Research in Gastroenterology.
abstract: Electronic health records (EHRs) are being increasingly utilized and form a unique source of extensive data gathered during routine clinical care. Through use of codified and free text concepts identified using clinical informatics tools, disease labels can be assigned with a high degree of accuracy. Analysis linking such EHR-assigned disease labels to a biospecimen repository has demonstrated that genetic associations identified in prospective cohorts can be replicated with adequate statistical power and novel phenotypic associations identified. In addition, genetic discovery research can be performed utilizing clinical, laboratory, and procedure data obtained during care. Challenges with such research include the need to tackle variability in quality and quantity of EHR data and importance of maintaining patient privacy and data security. With appropriate safeguards, this novel and emerging field of research offers considerable promise and potential to further scientific research in gastroenterology efficiently, cost-effectively, and with engagement of patients and communities.
authors.affiliation: Division of Gastroenterology, Massachusetts General Hospital, Boston, Massachusetts; Harvard Medical School, Boston, Massachusetts. Electronic address: aananthakrishnan@mgh.harvard.edu.
authors.forename: Ashwin N
authors.initials: AN
authors.lastname: Ananthakrishnan
authors.affiliation: Division of Gastroenterology and Hepatology, Oregon Health and Science University, Portland, Oregon.
authors.forename: David
authors.initials: D
authors.lastname: Lieberman
mesh_terms: D016494:Computer Security / Q000941:ethics*; D003219:Confidentiality / Q000941:ethics*; D057286:Electronic Health Records / Q000592:standards / Q000706:statistics & numerical data*; D005762:Gastroenterology / Q000379:methods*; D036281:Genetic Research / Q000191:economics / Q000941:ethics; D006801:Humans
keywords: Electronic Health Records; Genetics; Informatics; Natural Language Processing