Understanding genetic disease with electronic medical records

Science 359, 1233–1239 (2018)

Cell 173, 1–13 (2018)

Electronic medical records can be used to better understand heritability patterns of genetic disease, to identify next of kin using emergency contact information, and to uncover previously unrecognized Mendelian disease patterns by leveraging stored phenotypes.

Aaron Haupt/Science Source

A team from Vanderbilt University mined the electronic medical records of individuals admitted to the university’s medical center to identify phenotypic features that occur in individuals with Mendelian disease. Applying this knowledge to genotyped individuals affected with overlapping symptoms allowed them to identify rare pathogenic mutations causing these diseases.

In another study at three New York–based hospitals, researchers linked family members using emergency contact information, allowing them to accurately trace genetic disease inheritance patterns.

Both studies illustrate the wealth of information contained within electronic health records.