Electronic health records-based algorithms to screen for U.S. Centers for Disease Control and Prevention tier 1 genetic diseases: a scoping review.

ABSTRACT:

Objective

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.

Materials and methods

We conducted a scoping review using the JBI Manual for Evidence Synthesis and reported results according to PRISMA-ScR guidelines. We searched Ovid MEDLINE, Embase, and Web of Science through October 2024 for studies evaluating EHR-based algorithms to identify individuals with FH, HBOC, o

SUBMITTER: Harris WR 

PROVIDER: S-EPMC12451938 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature