ArticleJCO clinical cancer informatics2024
Identification of Individuals With Hereditary Cancer Risk Through Multiple Data Sources: A Population-Based Method Using the GARDE Platform and The Utah Population Database.
Article in JCO clinical cancer informatics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
3 citing papers in PubMed.
- Streamlining Inherited Cancer Identification via an EMR-Integrated Risk Assessment Platform: A Nonrandomized Clinical Trial.JAMA network open · 2026Trial
- Views on a Chatbot for Cancer Family History Collection among Leaders of Hispanic and Pacific Islander Communities in Utah.Public health genomics · 2026Article
- Incomplete Family History and Meeting Algorithmic Criteria for Genetic Evaluation of Hereditary Cancer.JAMA network open · 2025Article
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Authors and funding
7 authors.
Funding
Abstract
purposeThe GARDE platform uses family history reported in the electronic health record (EHR) to systematically identify eligible patients for genetic testing for hereditary cancer syndromes. The goal of this study was to evaluate the change in effectiveness of GARDE to identify eligible individuals when more comprehensive family history data are provided, thus quantifying the impact of underdocumentation.
methodsA cohort of 133,764 patients at the University of Utah Health was analyzed with GARDE comparing identification rates using EHR data versus EHR plus data from a statewide population database, the Utah Population Database (UPDB).
resultsCompared with EHR alone, EHR + UPDB increased the rate of individuals eligible for genetic testing from 4.1% to 9.2%. In the 44,692 individuals with the most comprehensive family history, eligibility more than quadrupled from 4.6% (EHR alone) to 19.3% (EHR + UPDB). The increase was significant across all demographics, but disparities still remained for historically marginalized minorities (9.2%-13.9% in non-White races compared with 19.7% in White races).
conclusionAugmenting EHR data with family history data from the UPDB substantially improved the detection of individuals eligible for genetic testing of hereditary cancer syndromes in all subgroups. This underscores the importance of improving methods for acquiring family history, in person or in silico. However, these increases did not ameliorate disparities. Continuous disparities are unlikely to be explained by incomplete family history alone and may also be because susceptibility genes, risk variants, and screening guidelines were discovered and developed largely in White races. Addressing disparities will require intentional data collection of family history in historically marginalized minorities and the promotion of genetic and risk assessment studies in more diverse populations to ensure equity and health care.
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