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

Author:

Abul-Husn Noura S.1,Manickam Kandamurugu2,Jones Laney K.2,Wright Eric A.2,Hartzel Dustin N.2,Gonzaga-Jauregui Claudia1,O’Dushlaine Colm1,Leader Joseph B.2,Lester Kirchner H.2,Lindbuchler D’Andra M.2,Barr Marci L.2,Giovanni Monica A.2,Ritchie Marylyn D.2,Overton John D.1,Reid Jeffrey G.1,Metpally Raghu P. R.2,Wardeh Amr H.2,Borecki Ingrid B.1,Yancopoulos George D.1,Baras Aris1,Shuldiner Alan R.1,Gottesman Omri1,Ledbetter David H.2,Carey David J.2,Dewey Frederick E.1,Murray Michael F.2

Affiliation:

1. Regeneron Genetics Center, Tarrytown, NY 10591, USA.

2. Geisinger Health System, Danville, PA 17822, USA.

Abstract

Unleashing the power of precision medicine Precision medicine promises the ability to identify risks and treat patients on the basis of pathogenic genetic variation. Two studies combined exome sequencing results for over 50,000 people with their electronic health records. Dewey et al. found that ∼3.5% of individuals in their cohort had clinically actionable genetic variants. Many of these variants affected blood lipid levels that could influence cardiovascular health. Abul-Husn et al. extended these findings to investigate the genetics and treatment of familial hypercholesterolemia, a risk factor for cardiovascular disease, within their patient pool. Genetic screening helped identify at-risk patients who could benefit from increased treatment. Science , this issue p. 10.1126/science.aaf6814 , p. 10.1126/science.aaf7000

Funder

Regeneron Pharmaceuticals

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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