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

Robert M. Cronin, Alese E. Halvorson, Cassie Springer, Xiaoke Feng, Lina Sulieman, Roxana Loperena-Cortes, Kelsey Mayo, Robert J. Carroll, Qingxia Chen, Brian K. Ahmedani, Jason Karnes, Bruce Korf, Christopher J. O'Donnell, Jun Qian, Andrea H. Ramirez

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)695-703
Number of pages9
JournalJournal of the American Medical Informatics Association : JAMIA
Volume28
Issue number4
DOIs
StatePublished - Mar 18 2021

Keywords

  • Family health history
  • electronic health records
  • health surveys
  • precision medicine

ASJC Scopus subject areas

  • Health Informatics

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