Electronic health records-based algorithms to screen for U.S. Centers for Disease Control and Prevention tier 1 genetic diseases: a scoping review.
Missed diagnosis of genetic conditions is a persistent challenge in clinical care, particularly for familial hypercholesterolemia (FH), hereditary breast and ovarian cancer (HBOC), and Lynch syndrome-conditions designated by the U.S. Centers for Disease Control and Prevention (CDC) as Tier 1 genomic applications. This scoping review summarizes evidence on the use of electronic health record (EHR)-based algorithms to identify individuals with these conditions.
Author(s): Harris, William R, Hernandez, Marianna S, Ngo, Khanh N H, Fladger, Anne, Brunette, Charles A, Hamarneh, Sulaiman R, Knowles, Joshua W, Lebo, Matthew S, Vassy, Jason L
DOI: 10.1093/jamia/ocaf140