Estimating Disease Heritability from Electronic Healthcare Records: A Proof-of-Concept Study
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Abstract:
A family history of a chronic disease often predicts disease risk, with predictive value determined by heritability, the proportion of variation in risk explained by inherited genetic factors. Our objective was to assess the validity of disease heritability estimates from electronic healthcare records (EHRs) that capture family relationships and disease diagnoses.
EHRs provide a promising approach to explore heritability of selected health conditions in large, diverse populations. Inconsistencies between EHR-derived and genetically-derived estimates are indicative of the limitations of diagnoses recorded for administrative purposes. Future research will explore sex-specific heritability estimates and effects of change in disease diagnosis coding over time.