Population Genomic Screening and Improved Lipid Management in Patients With Familial Hypercholesterolemia
Following genetic screening, many patients with a pathogenic FH variant experienced improvements in clinical management and LDL-C levels. Electronic health record documentation of the diagnosis code was associated with a greater likelihood of therapeutic modifications, which, in turn, were associated with larger LDL-C reductions. Findings underscore the powerful potential of population genomic screening for supporting optimal lipid management in individuals with FH.
Authors
- Natalie Telis (ORCID: https://orcid.org/0000-0002-4813-6893)
- Chad Haldeman‐Englert (ORCID: https://orcid.org/0000-0001-7581-5333)
- Douglas Stoller (ORCID: https://orcid.org/0000-0002-4064-4324)
- Catherine Hajek (ORCID: https://orcid.org/0000-0002-7497-4540)
- Nicole Washington (ORCID: https://orcid.org/0000-0001-8936-9143)
- Ashley Waring
- Amy C. Sturm (ORCID: https://orcid.org/0000-0001-6839-7786)
- Kelly M. Schiabor Barrett (ORCID: https://orcid.org/0000-0001-6194-787X)
- Alexandre Bolze (ORCID: https://orcid.org/0000-0001-7399-2766)
- Lisa M. McEwen (ORCID: https://orcid.org/0000-0002-0500-9173)
- Matthew E. Levy (ORCID: https://orcid.org/0000-0002-2164-1726)
- Joseph J. Grzymski (ORCID: https://orcid.org/0000-0003-2646-8958)
- 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)
- William Lee (ORCID: https://orcid.org/0000-0001-9582-4413)
- Douglas A. Olson
- Christopher N. Chapman
- Megan Betts (ORCID: https://orcid.org/0009-0004-7308-103X)
- Jeremy Cauwels (ORCID: https://orcid.org/0000-0001-5175-1902)
- Basil Khuder (ORCID: https://orcid.org/0009-0006-9870-5819)
Institutions
- St. Luke's University Health Network (US)
- Sanford Health (US)
- Cone Health (US)
- University of Nevada, Reno (US)
- Medical University of South Carolina (US)
- The Ohio State University Wexner Medical Center (US)
- WellSpan Health (US)
- Helix (United States) (US)
- HealthPartners (US)
- University of Nebraska Medical Center (US)
Publication Details
- Journal
- Circulation Genomic and Precision Medicine
- Published
- 2025-11-05
- DOI
- https://doi.org/10.1161/circgen.125.005206
- Citations
- 1
- Primary Topic
- Lipoproteins and Cardiovascular Health
- Type
- article
- Field-Weighted Citation Impact
- 2.01