P504: Polygenic risk for hypercholesterolemia elicits comparable clinical engagement as monogenic familial hypercholesterolemia results: Findings from the eMERGE IV Study

Genetics in Medicine Open 2026 Open access

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Authors: Priya N. Marathe, Laura Golfinopoulos, Sabrina A. Suckiel, Jacqueline A. Odgis, Katherine E. Bonini, Sarah C. Hanks, Danielle Hoffman, Hana Bangash, Timothy Mark Beasley, Cynthia A. Prows, Erin Miller, Gail Jarvik
+21 more Atlas Khan, Chunhua Weng, Nita A. Limdi, Cong Liu, Teri A. Manolio, Emma F. Perez, Emma R. Henricks, Edward D. Esplin, Jennifer A. Pacheco, Elizabeth M. McNally, Mohammadreza Naderian, Bahram Namjou Khales, Yuan Luo, Adam Gordon, Margaret Horton Harr, Sharon Nirenberg, Michael Murray, Emily Gallagher, Amy Kontorovich, Eimear E. Kenny, Noura S. Abul‐Husn
DOI: 10.1016/j.gimo.2026.103996
Cited by: 0

Abstract

While monogenic familial hypercholesterolemia (FH) is recognized as a cause of severe hypercholesterolemia (HC), elevated LDL-C can also arise from polygenic inheritance. Polygenic risk scores (PRS) offer an opportunity to identify patients at increased risk of HC who may otherwise be missed. Integrating PRS into clinical care could enable tailored interventions to better manage at-risk individuals. Understanding how patients and healthcare providers (HCPs) respond to PRS results is critical to their successful implementation into clinical care.

Fields of Study & Subjects

Lipoproteins and Cardiovascular Health Genetic Associations and Epidemiology Genomics and Rare Diseases

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103996–103996
Publication date
1 January 2026
Language
EN