O20: Improved clinical management following diagnosis with familial hypercholesterolemia in the Helix Research Network Population Genomics Screening Program
The Helix Research Network is a large population genomics program that screens adult patients for CDC Tier 1 genetic conditions, including familial hypercholesterolemia (FH). This evaluation aims to describe changes in clinical management and LDL cholesterol (LDL-C) levels among patients identified to have FH. We also examined the impact of documenting FH as a diagnosis code in patients’ electronic health records (EHRs).
Authors
- Christopher Chapman (ORCID: https://orcid.org/0000-0003-1848-1490)
- Douglas Stoller (ORCID: https://orcid.org/0000-0002-4064-4324)
- Kelly M. Schiabor Barrett (ORCID: https://orcid.org/0000-0001-6194-787X)
- Alexandre Bolze (ORCID: https://orcid.org/0000-0001-7399-2766)
- Joseph J. Grzymski (ORCID: https://orcid.org/0000-0003-2646-8958)
- Daniel Philip Judge (ORCID: https://orcid.org/0000-0002-3407-0248)
- C. Anwar A. Chahal (ORCID: https://orcid.org/0000-0001-7825-8827)
- David Kann
- Elizabeth T. Cirulli (ORCID: https://orcid.org/0000-0001-7808-2809)
- Cassie Hajek
- Matthew Levy (ORCID: https://orcid.org/0000-0002-7719-7919)
- Douglas A. Olson
- Megan Betts (ORCID: https://orcid.org/0009-0004-7308-103X)
- Jeremy Cauwels (ORCID: https://orcid.org/0000-0001-5175-1902)
Institutions
- St. Luke's University Health Network (US)
- Sanford Health (US)
- University of Nevada, Reno (US)
- Medical University of South Carolina (US)
- WellSpan Health (US)
- Helix (United States) (US)
- HealthPartners (US)
- University of Nebraska Medical Center (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102096
- Primary Topic
- Lipoproteins and Cardiovascular Health
- Type
- article
- Field-Weighted Citation Impact
- 0.00