Highlights
- •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.
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 counselors, and family concerns
about the implications of genetic testing for care.
Objectives
The objective of the study was 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 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.
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 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.
Conclusions
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.
Keywords
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Article info
Publication history
Published online: February 11, 2020
Accepted:
February 3,
2020
Received:
November 26,
2019
Footnotes
Funding: This study was funded by a grant from the COLOR Foundation to the FH Foundation and additional FH Foundation funds.
Conflict of interest: S.G., A.M.S., K.W., and C.D.A. are employees/officers of the FH Foundation, a 501c3 advocacy and research organization dedicated to improving care for those with familial hypercholesterolemia. C.L.N., H.E.W., S.L., and A.Y.Z. have equity interest and are employed by Color Genomics. I.K. has no conflict of interest to report.
Identification
Copyright
© 2020 Published by Elsevier Inc. on behalf of National Lipid Association.
