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Genotype-guided diagnosis in familial hypercholesterolemia: clinical management and concerns

Hopkins, Paul N.; Lane, Stacey R.

Current Opinion in Lipidology: April 2017 - Volume 28 - Issue 2 - p 144–151
doi: 10.1097/MOL.0000000000000397
GENETICS AND MOLECULAR BIOLOGY: Edited by Robert A. Hegele

Purpose of review: In this review, we examine benefits and concerns associated with genetic testing in the clinical management of familial hypercholesterolemia (FH).

Recent findings: Application of next-generation sequencing and other advances provide improved yield of causal mutations compared with older methods and help disclose underlying pathophysiology in many instances. Concerns regarding clinical application of genetic testing remain.

Summary: More widespread application of genetic testing for FH in the USA may be forthcoming. When a genetic cause of FH can be identified or is known for the family, test results can provide more accurate individual diagnosis of FH, clarification of underlying pathophysiology, and greater clinical insight. However, several concerns persist, particularly cost to FH patients, potential discrimination, and inappropriate denial of clinically indicated therapies for patients without definitive genetic testing results.

aCardiovascular Genetics Research Program, Division of Cardiovascular Medicine, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, Utah

bThe FH Foundation, Pasadena, California, USA

Correspondence to Paul N. Hopkins, MD, MSPH Cardiovascular Genetics Research Program, Division of Cardiovascular Medicine, Department of Internal Medicine, University of Utah School of Medicine, 417 Wakara Way, Room 2124, Salt Lake City, UT 84108, USA. Tel: +1 801 585 5592; e-mail: paul.hopkins@utah.edu

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