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Published on: September 15, 2018
Genetic testing for familial hypercholesterolemia
Yiyi Zhang1, Sarah D de Ferranti2,3, Andrew E Moran1
1Division of General Medicine, Columbia University, New York, New York.
Insights
Genetic testing for familial hypercholesterolemia (FH) is underutilized but crucial for cardiovascular disease (CVD) risk reduction. Integrating genetic tests improves FH diagnosis, screening, and treatment adherence.
Area of Science:
- Cardiovascular Genetics
- Clinical Diagnostics
- Public Health Genomics
Background:
- Familial hypercholesterolemia (FH) is the most common genetic cause of cardiovascular disease (CVD).
- Genetic testing for FH is underutilized in the United States.
- Current diagnostic criteria may miss FH cases.
Conclusions:
- Systematic integration of genetic testing can reduce the burden of FH through early detection and treatment.
- Further implementation studies are needed for cost-effective integration into lipid screening programs.
Purpose Of Review:
Despite familial hypercholesterolemia (FH) being the most common genetic cause of cardiovascular disease (CVD), genetic testing is rarely utilized in the US. This review summarizes what is known about the clinical utility of genetic testing and its role in the diagnosis and screening of FH.
Recent Findings:
The presence of an FH-causative variant is associated with a substantially higher risk of CVD, even when low-density lipoprotein cholesterol (LDL-C) levels are only modestly elevated. Genetic testing can facilitate the identification of FH cases who may be missed by clinical diagnostic criteria, improve risk stratification beyond LDL-C and family history, guide treatment decisions, and improve treatment initiation and adherence. Genetic testing can be incorporated into FH screening and diagnosis algorithms, including cascade, targeted, and universal screening. Integrating genetic testing into cascade screening can enhance the effectiveness of the process. Several models of universal FH screening with coordinated genetic and lipid testing are feasible and effective.
Summary:
More systematic integration of genetic testing into FH diagnosis and screening can significantly reduce the burden of this condition through early detection and treatment. Further pragmatic implementation studies are needed to determine how to more effectively and affordably integrate genetic testing into clinical lipid screening programs.
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