Genetic identification of familial hypercholesterolemia within a single U.S. Health care system

Noura S. Abul-Husn, Kandamurugu Manickam, Laney K. Jones, Eric A. Wright, Dustin N. Hartzel, Claudia Gonzaga-Jauregui, Colm O'Dushlaine, Joseph B. Leader, H. Lester Kirchner, D'Andra M. Lindbuchler, Marci L. Barr, Monica A. Giovanni, Marylyn D. Ritchie, John D. Overton, Jeffrey G. Reid, Raghu P.R. Metpally, Amr H. Wardeh, Ingrid B. Borecki, George D. Yancopoulos, Aris BarasAlan R. Shuldiner, Omri Gottesman, David H. Ledbetter, David J. Carey, Frederick E. Dewey, Michael F. Murray

Research output: Contribution to journalArticlepeer-review

299 Scopus citations


Familial hypercholesterolemia (FH) remains underdiagnosed despite widespread cholesterol screening. Exome sequencing and electronic health record (EHR) data of 50,726 individuals were used to assess the prevalence and clinical impact of FH-associated genomic variants in the Geisinger Health System. The estimated FH prevalence was 1:256 in unselected participants and 1:118 in participants ascertained via the cardiac catheterization laboratory. FH variant carriers had significantly increased risk of coronary artery disease. Only 24% of carriers met EHR-based presequencing criteria for probable or definite FH diagnosis. Active statin use was identified in 58% of carriers; 46% of statin-treated carriers had a low-density lipoprotein cholesterol level below 100 mg/dl. Thus, we find that genomic screening can prompt the diagnosis of FH patients, most of whom are receiving inadequate lipid-lowering therapy.

Original languageEnglish (US)
Article numberaaf7000
Issue number6319
StatePublished - Dec 23 2016

All Science Journal Classification (ASJC) codes

  • General


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