Patient acceptance of genetic testing for familial hypercholesterolemia in the CASCADE FH Registry

Published:February 11, 2020DOI:


      • In the USA, there is interest in genetic testing when offered for free and online.
      • In those diagnosed with FH by a lipidologist, about 58% had a positive test.
      • Uptake of cascade screening by a family in those with a positive test was minimal.


      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 counselors, and family concerns about the implications of genetic testing for care.


      The objective of the study was to determine the uptake of genetic testing with cost and privacy removed.


      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 3 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.


      Of 435 eligible patients, 147 opted in to participate, 122 consented, and 110 (68.2% female, median age: 52 years) received genetic testing. Of the 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 3 first-degrees relatives underwent genetic testing.


      Although there was substantial interest in genetic testing, uptake of family cascade screening was poor. Innovative approaches to increase family cascade screening should be explored.


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