TY - JOUR
T1 - Comparison of family health history in surveys vs electronic health record data mapped to the observational medical outcomes partnership data model in the All of Us Research Program
AU - Cronin, Robert M.
AU - Halvorson, Alese E.
AU - Springer, Cassie
AU - Feng, Xiaoke
AU - Sulieman, Lina
AU - Loperena-Cortes, Roxana
AU - Mayo, Kelsey
AU - Carroll, Robert J.
AU - Chen, Qingxia
AU - Ahmedani, Brian K.
AU - Karnes, Jason
AU - Korf, Bruce
AU - O'Donnell, Christopher J.
AU - Qian, Jun
AU - Ramirez, Andrea H.
N1 - Publisher Copyright: © 2020 The Author(s).
PY - 2021/4/1
Y1 - 2021/4/1
N2 - Objective: Family health history is important to clinical care and precision medicine. Prior studies show gaps in data collected from patient surveys and electronic health records (EHRs). The All of Us Research Program collects family history from participants via surveys and EHRs. This Demonstration Project aims to evaluate availability of family health history information within the publicly available data from All of Us and to characterize the data from both sources. Materials and Methods: Surveys were completed by participants on an electronic portal. EHR data was mapped to the Observational Medical Outcomes Partnership data model. We used descriptive statistics to perform exploratory analysis of the data, including evaluating a list of medically actionable genetic disorders. We performed a subanalysis on participants who had both survey and EHR data. Results: There were 54 872 participants with family history data. Of those, 26% had EHR data only, 63% had survey only, and 10.5% had data from both sources. There were 35 217 participants with reported family history of a medically actionable genetic disorder (9% from EHR only, 89% from surveys, and 2% from both). In the subanalysis, we found inconsistencies between the surveys and EHRs. More details came from surveys. When both mentioned a similar disease, the source of truth was unclear. Conclusions: Compiling data from both surveys and EHR can provide a more comprehensive source for family health history, but informatics challenges and opportunities exist. Access to more complete understanding of a person's family health history may provide opportunities for precision medicine.
AB - Objective: Family health history is important to clinical care and precision medicine. Prior studies show gaps in data collected from patient surveys and electronic health records (EHRs). The All of Us Research Program collects family history from participants via surveys and EHRs. This Demonstration Project aims to evaluate availability of family health history information within the publicly available data from All of Us and to characterize the data from both sources. Materials and Methods: Surveys were completed by participants on an electronic portal. EHR data was mapped to the Observational Medical Outcomes Partnership data model. We used descriptive statistics to perform exploratory analysis of the data, including evaluating a list of medically actionable genetic disorders. We performed a subanalysis on participants who had both survey and EHR data. Results: There were 54 872 participants with family history data. Of those, 26% had EHR data only, 63% had survey only, and 10.5% had data from both sources. There were 35 217 participants with reported family history of a medically actionable genetic disorder (9% from EHR only, 89% from surveys, and 2% from both). In the subanalysis, we found inconsistencies between the surveys and EHRs. More details came from surveys. When both mentioned a similar disease, the source of truth was unclear. Conclusions: Compiling data from both surveys and EHR can provide a more comprehensive source for family health history, but informatics challenges and opportunities exist. Access to more complete understanding of a person's family health history may provide opportunities for precision medicine.
KW - Family health history
KW - electronic health records
KW - health surveys
KW - precision medicine
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U2 - 10.1093/jamia/ocaa315
DO - 10.1093/jamia/ocaa315
M3 - Article
C2 - 33404595
SN - 1067-5027
VL - 28
SP - 695
EP - 703
JO - Journal of the American Medical Informatics Association
JF - Journal of the American Medical Informatics Association
IS - 4
ER -