Opportunistic Genomic Screening for Familial Hypercholesterolemia to Improve Low-Density Lipoprotein Cholesterol

Does opportunistic genomic screening for familial hypercholesterolemia (FH) reduce low-density lipoprotein cholesterol (LDL-C) levels in a national health care system?In this randomized clinical trial of 112 participants suspected to have FH-associated genetic variants, participants who received immediate disclosure of their results and telegenetic counseling had a 10.5-mg/dL greater reduction in LDL-C levels at 6 months than those with delayed disclosure. This difference was not statistically significant, but an exploratory bayesian analysis suggested a high probability of benefit for the intervention.These findings suggest that opportunistic genomic screening for FH may modestly improve LDL-C levels, even in populations already receiving therapy to lower lipid levels, but results should be confirmed in larger studies.

Corresponding Author: Jason L. Vassy, MD, MPH, MS, Harvard Medical School at Veterans Affairs Boston Healthcare System, 150 South Huntington Ave, 151B, Boston, MA 02130 (jason.vassy@va.gov).

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