Patient Electronic Health Records as a Means to Approach Genetic Research in Gastroenterology

Ashwin N. Ananthakrishnan, David Lieberman

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1134-1137
Number of pages4
Issue number5
StatePublished - Oct 2015


  • Electronic Health Records
  • Genetics
  • Informatics
  • Natural Language Processing

ASJC Scopus subject areas

  • Hepatology
  • Gastroenterology


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