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May 18, 2017

What's your risk of developing an autoimmune disease? Your EHR might hold the answer, study finds

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Health care providers can use EHR data to identify a patient's risk of developing certain autoimmune diseases, according to a study published last week in Science Translational Medicine.

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Researchers use EHR data to build comprehensive catalog of diseases

Researchers at Vanderbilt University Medical Center (VUMC) and the University of Arizona's College of Pharmacy used EHR data to develop a list of diseases associated with variations in human leukocyte antigen (HLA) genes, which maintain the immune system. According to EHR Intelligence, the researchers created the catalog as a way to help alert health care providers to patients' risks of developing autoimmune diseases, in which a person's antibodies attack their own tissues.

Study details

For the study, researchers from several institutions, including the University of Manchester and Marshfield Clinic Research Foundation, set out to see whether the catalogue could help providers to identify patients who might develop certain autoimmune diseases.

The researchers tested genetic samples from two separate sets of individuals of European ancestry:

  • One sample of about 29,000 individuals included in Vanderbilt's DNA database, called BioVU; and
  • One sample of about 8,400 individuals from a database provided by Marshfield Clinic­.

The researchers then screened the individuals' EHRs for the presence of 1,368 phenotypes associated with the HLA genes.


Overall, the study found that health care providers can use EHR data to identify whether a patient has an HLA gene variation that could trigger a particular autoimmune disease. For instance, the researchers said the strongest association they identified was an HLA variation associated with Type 1 diabetes, but added that they also found HLA associations related to cervical cancer and multiple sclerosis.

The researchers said knowing whether patients are at high-risk for developing certain autoimmune diseases could allow providers to prevent their onset. For instance, providers could scan patients' EHR data to see whether they have HLA variants associated with autoimmune diseases, and then the providers would know to treat infections before the resulting antibodies can attack such patients' tissues.

Joshua Denny, a senior author of the study and a biomedical informatics professor at Vanderbilt, said the findings confirm that EHRs can be used to improve and advance the treatment, understanding, and prevention of disease (Monica, EHR Intelligence, 5/12; Karnes et al., Scientific Translational Medicine, 5/10).

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