Evaluation of family history information within clinical documents and adequacy of HL7 clinical statement and clinical genomics family history models for its representation: a case report

Family history information has emerged as an increasingly important tool for clinical care and research. While recent standards provide for structured entry of family history, many clinicians record family history data in text. The authors sought to characterize family history information within clinical documents to assess the adequacy of existing models and create a more comprehensive model for its representation. Models were evaluated on 100 documents containing 238 sentences and 410 statements relevant to family history. Most statements were of family member plus disease or of disease only. Statement coverage was 91%, 77%, and 95% for HL7 Clinical Genomics Family History Model, HL7 Clinical Statement Model, and the newly created Merged Family History Model, respectively. Negation (18%) and inexact family member specification (9.5%) occurred commonly. Overall, both HL7 models could represent most family history statements in clinical reports; however, refinements are needed to represent the full breadth of family history data.