Publications by authors named "Timothy C Shuey"
Background Data mining of electronic health records to identify patients suspected of familial hypercholesterolemia (FH) has been limited by absence of both phenotypic and genomic data in the same cohort. Methods and Results Using the Geisinger MyCode Community Health Initiative cohort (n=130 257), we ran 2 screening algorithms (Mayo Clinic [Mayo] and flag, identify, network, deliver [FIND] FH) to determine FH genetic and phenotypic diagnostic yields. With 29 243 excluded by Mayo (for secondary causes of hypercholesterolemia, no lipid value in electronic health records), 52 034 excluded by FIND FH (insufficient data to run the model), and 187 excluded for prior FH diagnosis, a final cohort of 59 729 participants was created.
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- - The CARE-FH study at Geisinger aims to enhance the identification of Familial Hypercholesterolemia (FH) by integrating diagnostic evaluations into primary care settings, focusing on early detection before cardiovascular diseases develop.
- - The study employs implementation science to develop and apply strategies based on evidence-based guidelines, ensuring clinicians are well-equipped to diagnose FH effectively.
- - The project is conducted in two phases: the first focuses on designing the trial and developing strategies, while the second assesses the rollout of the intervention across various medical fields and evaluates its impact on diagnostic rates and health outcomes.