Disease Heritability Inferred from Familial Relationships Reported in Medical Records.


Journal Article

Heritability is essential for understanding the biological causes of disease but requires laborious patient recruitment and phenotype ascertainment. Electronic health records (EHRs) passively capture a wide range of clinically relevant data and provide a resource for studying the heritability of traits that are not typically accessible. EHRs contain next-of-kin information collected via patient emergency contact forms, but until now, these data have gone unused in research. We mined emergency contact data at three academic medical centers and identified 7.4 million familial relationships while maintaining patient privacy. Identified relationships were consistent with genetically derived relatedness. We used EHR data to compute heritability estimates for 500 disease phenotypes. Overall, estimates were consistent with the literature and between sites. Inconsistencies were indicative of limitations and opportunities unique to EHR research. These analyses provide a validation of the use of EHRs for genetics and disease research.

Full Text

Cited Authors

  • Polubriaginof, FCG; Vanguri, R; Quinnies, K; Belbin, GM; Yahi, A; Salmasian, H; Lorberbaum, T; Nwankwo, V; Li, L; Shervey, MM; Glowe, P; Ionita-Laza, I; Simmerling, M; Hripcsak, G; Bakken, S; Goldstein, D; Kiryluk, K; Kenny, EE; Dudley, J; Vawdrey, DK; Tatonetti, NP

Published Date

  • June 2018

Published In

Volume / Issue

  • 173 / 7

Start / End Page

  • 1692 - 1704.e11

PubMed ID

  • 29779949

Pubmed Central ID

  • 29779949

Electronic International Standard Serial Number (EISSN)

  • 1097-4172

International Standard Serial Number (ISSN)

  • 0092-8674

Digital Object Identifier (DOI)

  • 10.1016/j.cell.2018.04.032


  • eng