Opportunistic Genomic Screening for Familial Hypercholesterolemia: Does Genetic Feedback Drive Clinical Change?

Highlights

1. A randomized clinical trial within the Veterans Health Administration (VA) explored the impact of returning familial hypercholesterolemia (FH) genetic results to patients.
2. Although the primary outcome of LDL-C reduction did not reach statistical significance (P = .07), a trend toward benefit was observed with a reduction of -10.5 mg/dL in the immediate results arm.
3. Treatment intensification was more frequent in the immediate results group (20.0%) compared to the delayed group (8.8%).
4. Over 60% of participants who received immediate results shared them with relatives, highlighting the potential for cascade screening.

Introduction: The Burden of Unrecognized Familial Hypercholesterolemia

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