Not all genetic testing is the same, and interpretation of genetic testing gains accuracy when a patient’s ancestry is considered. In this issue of JAMA Cardiology, Sturm and colleagues1 explore these issues for familial hypercholesterolemia (FH) genetic testing.
The value of genetic testing for FH has been questioned because severe hypercholesterolemia (ie, low-density lipoprotein cholesterol [LDL-C] >190 mg/dL; to convert to millimoles per liter, multiply by 0.0259), regardless of causative mechanism, merits LDL-C lowering with statins. The availability of costly nonstatin medications has bolstered genetic testing, since results can inform the need for these medications. Furthermore, FH mutations associate with increased coronary artery disease risk even among individuals matched for LDL-C concentrations.2 Classic clinical criteria for FH have become less sensitive, given trends in statin use and saturated fat intake and imprecise family histories. A recent expert panel recommended offering FH genetic testing to individuals of any age in whom FH is clinically strongly suspected.3
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Natarajan P, McNally EM. Knowing More Than the Knowns in Familial Hypercholesterolemia. JAMA Cardiol. Published online May 26, 2021. doi:10.1001/jamacardio.2021.1458
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