Key result
Genetic testing for familial hypercholesterolemia provides more accurate diagnosis and clinical insight, though concerns regarding cost, potential discrimination, and therapy denial persist.
Why the study?
What are the benefits and concerns associated with genetic testing in the clinical management of familial hypercholesterolemia?
What are the benefits and concerns associated with genetic testing in the clinical management of familial hypercholesterolemia?
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Genetic testing for familial hypercholesterolemia improves diagnostic accuracy and pathophysiological insight, but clinical implementation faces barriers related to cost, potential discrimination, and therapy access.
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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Hopkins et al. (2017) conducted a review in Familial hypercholesterolemia (FH). Genetic testing was evaluated. Genetic testing for familial hypercholesterolemia provides more accurate diagnosis and clinical insight, though concerns regarding cost, potential discrimination, and therapy denial persist.
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