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A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
Genotype-guided diagnosis in familial hypercholesterolemia: clinical management and concerns
Paul N Hopkins1, Stacey R Lane
1aCardiovascular 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.
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.
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