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

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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.


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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