Abstract 20114: Impact of Genetic Testing on Cascade Screening for Familial Hypercholesterolemia - A Randomized Controlled Trial

Background: More than one million individuals in the US are estimated to have Familial Hypercholesterolemia (FH), however fewer than 1% have been diagnosed. Family-based cascade screening from identified probands is widely recommended to improve the identification of FH. However, cascade screening is not effectively performed in the US, and genetic testing for FH is rarely performed in routine clinical care. Hypothesis: We hypothesized that genetic testing of FH probands and identification of a causative mutation would enhance the success of family based cascade screening Methods: In this single-site study, patients in an academic health system with LDL-C≥220 mg/dl were randomized to genetic testing for FH (n=160) or lipid testing alone (n=80). Probands were told of positive genetic results. All probands were contacted on at least three separate occasions and encouraged to invite their relatives to participate in cascade screening, with genetic testing offered to relatives of the mutation positive proband...