Exploring Gaps of Family History Documentation in EHR for Precision Medicine -A Case Study of Familial Hypercholesterolemia Ascertainment

In the era of precision medicine, accurately identifying familial conditions is crucial for providing target treatment. However, it is challenging to identify familial conditions without detailed family history information. In this work, we studied the documentation of family history of premature cardiovascular disease and hypercholesterolemia. The information on patients' family history of stroke within the Patient-provided information (PPI) forms was compared with the information gathered by clinicians in clinical notes. The agreement between PPI and clinical notes on absence of family history information in PPI was substantially higher compared to presence of family history.