Patient Acceptance of Genetic Testing for Familial Hypercholesterolemia in the CASCADE FH Registry

Abstract Background Barriers to genetic testing and subsequent family cascade screening for familial hypercholesterolemia (FH) include cost, patient and provider awareness, privacy and discrimination concerns, need for a physician order, underutilization of genetic counsellors, and family concerns about the implications of genetic testing for care, Objectives To determine the uptake of genetic testing with cost and privacy removed. Methods The FH Foundation offered free genetic testing and counseling to patients in the patient portal of the CASCADE FH Registry, who had not previously undergone genetic testing for three genes associated with FH (LDLR, APOB, and PCSK9). The free testing offer was extended to first-degree relatives of participants who had a positive genetic test result for cascade screening. Results Of 435 eligible patients, 147 opted in to participate, 122 consented, and 110 (68.2% female, median age 52 years) received genetic testing. Of participants, 64 had a positive genetic test result for a pathogenic variant in LDLR (59) or APOB (5); 11 had a variant of uncertain significance. Only three first-degrees relatives underwent genetic testing. Conclusions While there was substantial interest in genetic testing, uptake of family cascade screening was poor. Innovative approaches to increase family cascade screening should be explored.