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

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

Science (American Association for the Advancement of Science), 2016-12, Vol.354 (6319), p.1550-1550 [Periódico revisado por pares]

United States: American Association for the Advancement of Science

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Título:
Genetic identification of familial hypercholesterolemia within a single U.S. health care system
Autor: Abul-Husn, Noura S. ; Manickam, Kandamurugu ; Jones, Laney K. ; Wright, Eric A. ; Hartzel, Dustin N. ; Gonzaga-Jauregui, Claudia ; O'Dushlaine, Colm ; Leader, Joseph B. ; Kirchner, H. Lester ; Lindbuchler, D'Andra M. ; Barr, Marci L. ; Giovanni, Monica A. ; Ritchie, Marylyn D. ; Overton, John D. ; Reid, Jeffrey G. ; Metpally, Raghu P. R. ; Wardeh, Amr H. ; Borecki, Ingrid B. ; Yancopoulos, George D. ; Baras, Aris ; Shuldiner, Alan R. ; Gottesman, Omri ; Ledbetter, David H. ; Carey, David J. ; Dewey, Frederick E. ; Murray, Michael F.
Assuntos: Cardiovascular disease ; Carriers ; Clinical Diagnosis ; Coloring Agents - therapeutic use ; Coronary Artery Disease - epidemiology ; Delivery of Health Care ; Diagnosis ; Drug Use ; Drug Utilization - statistics & numerical data ; Electronic Health Records ; Exome - genetics ; Family medical history ; Genetic Testing ; Genetics ; Genomics ; Health ; Health Services ; Heterozygote ; Humans ; Hyperlipoproteinemia Type II - diagnosis ; Hyperlipoproteinemia Type II - epidemiology ; Hyperlipoproteinemia Type II - genetics ; Lipids ; Lipoproteins, LDL - blood ; Patients ; Prevalence ; RESEARCH ARTICLE SUMMARY ; Risk ; Risk factors ; Screening ; United States - epidemiology
É parte de: Science (American Association for the Advancement of Science), 2016-12, Vol.354 (6319), p.1550-1550
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
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Descrição: 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.
Editor: United States: American Association for the Advancement of Science
Idioma: Inglês

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

United States: American Association for the Advancement of Science

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