Disease Heritability Inferred from Familial Relationships Reported in Medical Records.
Cell
; 173(7): 1692-1704.e11, 2018 06 14.
Article
em En
| MEDLINE
| ID: mdl-29779949
ABSTRACT
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.
Palavras-chave
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Registros Eletrônicos de Saúde
/
Doenças Genéticas Inatas
Tipo de estudo:
Prognostic_studies
Limite:
Humans
Idioma:
En
Revista:
Cell
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Estados Unidos